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Paired box protein Pax-6 (Aniridia type II protein) (Oculorhombin)

 PAX6_HUMAN              Reviewed;         422 AA.
P26367; Q6N006; Q99413;
01-AUG-1992, integrated into UniProtKB/Swiss-Prot.
15-JUL-1999, sequence version 2.
25-OCT-2017, entry version 209.
RecName: Full=Paired box protein Pax-6;
AltName: Full=Aniridia type II protein;
AltName: Full=Oculorhombin;
Name=PAX6; Synonyms=AN2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Fetal eye;
PubMed=1684738; DOI=10.1016/0092-8674(91)90284-6;
Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T.,
van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M.,
Royer-Pokora B., Collins F.S., Swaroop A., Strong L.C., Saunders G.F.;
"Positional cloning and characterization of a paired box- and
homeobox-containing gene from the aniridia region.";
Cell 67:1059-1074(1991).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=1345175; DOI=10.1038/ng1192-232;
Glaser T., Walton D.S., Maas R.L.;
"Genomic structure, evolutionary conservation and aniridia mutations
in the human PAX6 gene.";
Nat. Genet. 2:232-239(1992).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Liu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.;
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5A).
TISSUE=Cerebellum;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
ALTERNATIVE SPLICING, AND DNA-BINDING.
PubMed=7958875; DOI=10.1101/gad.8.17.2022;
Epstein J.A., Glaser T., Cai J., Jepeal L., Walton D.S., Maas R.L.;
"Two independent and interactive DNA-binding subdomains of the Pax6
paired domain are regulated by alternative splicing.";
Genes Dev. 8:2022-2034(1994).
[8]
INVOLVEMENT IN KERH.
PubMed=7668281;
Mirzayans F., Pearce W.G., MacDonald I.M., Walter M.A.;
"Mutation of the PAX6 gene in patients with autosomal dominant
keratitis.";
Am. J. Hum. Genet. 57:539-548(1995).
[9]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[10]
DEVELOPMENTAL STAGE.
PubMed=19414065; DOI=10.1016/j.ijdevneu.2009.04.004;
Larsen K.B., Lutterodt M., Rath M.F., Moeller M.;
"Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early
human fetal retina.";
Int. J. Dev. Neurosci. 27:485-492(2009).
[11]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
Mann M.;
"Quantitative phosphoproteomics reveals widespread full
phosphorylation site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
[12]
INVOLVEMENT IN AN2.
PubMed=24290376; DOI=10.1016/j.ajhg.2013.10.028;
Bhatia S., Bengani H., Fish M., Brown A., Divizia M.T., de Marco R.,
Damante G., Grainger R., van Heyningen V., Kleinjan D.A.;
"Disruption of autoregulatory feedback by a mutation in a remote,
ultraconserved PAX6 enhancer causes aniridia.";
Am. J. Hum. Genet. 93:1126-1134(2013).
[13]
X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 4-136.
PubMed=10346815; DOI=10.1101/gad.13.10.1263;
Xu H.E., Rould M.A., Xu W., Epstein J.A., Maas R.L., Pabo C.O.;
"Crystal structure of the human Pax-6 paired domain-DNA complex
reveals specific roles for the linker region and carboxyl-terminal
subdomain in DNA binding.";
Genes Dev. 13:1263-1275(1999).
[14]
REVIEW ON VARIANTS.
PubMed=9482572;
DOI=10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M;
Prosser J., van Heyningen V.;
"PAX6 mutations reviewed.";
Hum. Mutat. 11:93-108(1998).
[15]
STRUCTURE BY NMR OF 211-277.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the homeobox domain of the human paired box
protein PAX-6.";
Submitted (NOV-2005) to the PDB data bank.
[16]
VARIANT AN1 TRP-208.
PubMed=8364574; DOI=10.1093/hmg/2.7.915;
Hanson I.M., Seawright A., Hardman K., Hodgson S., Zaletayev D.,
Fekete G., van Heyningen V.;
"PAX6 mutations in aniridia.";
Hum. Mol. Genet. 2:915-920(1993).
[17]
VARIANT ASGD5 GLY-26.
PubMed=8162071; DOI=10.1038/ng0294-168;
Hanson I.M., Fletcher J.M., Jordan T., Brown A., Taylor D.,
Adams R.J., Punnet H.H., van Heyningen V.;
"Mutations at the PAX6 locus are found in heterogeneous anterior
segment malformations including Peters' anomaly.";
Nat. Genet. 6:168-173(1994).
[18]
VARIANTS FVH1 CYS-125 AND CYS-128.
PubMed=8640214; DOI=10.1038/ng0696-141;
Azuma N., Nishina S., Yanagisawa H., Okuyama T., Yamada M.;
"PAX6 missense mutation in isolated foveal hypoplasia.";
Nat. Genet. 13:141-142(1996).
[19]
VARIANT AN1 ARG-87, AND VARIANT GLY-26.
PubMed=9147640; DOI=10.1093/hmg/6.3.381;
Tang H.K., Chao L.-Y., Saunders G.F.;
"Functional analysis of paired box missense mutations in the PAX6
gene.";
Hum. Mol. Genet. 6:381-386(1997).
[20]
VARIANT AN1 22-PRO--ARG-26 DEL.
PubMed=9281415; DOI=10.1006/mcpr.1997.0117;
Axton R., Hanson I.M., Love J., Seawright A., Prosser J.,
van Heyningen V.;
"Combined SSCP/heteroduplex analysis in the screening for PAX6
mutations.";
Mol. Cell. Probes 11:287-292(1997).
[21]
VARIANT AN1 TRP-18.
PubMed=9792406;
DOI=10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.3.CO;2-Y;
Wolf M.T.F., Lorenz B., Winterpacht A., Drechsler M., Schumacher V.,
Royer-Pokora B., Blankenagel A., Zabel B., Wildhardt G.;
"Ten novel mutations found in Aniridia.";
Hum. Mutat. 12:304-313(1998).
[22]
VARIANT EYE MALFORMATIONS ARG-422.
PubMed=9538891;
Azuma N., Yamada M.;
"Missense mutation at the C-terminus of the PAX6 gene in ocular
anterior segment anomalies.";
Invest. Ophthalmol. Vis. Sci. 39:828-830(1998).
[23]
VARIANTS AN1 SER-17; VAL-29; GLN-44 AND HIS-178.
PubMed=9856761;
Azuma N., Hotta Y., Tanaka H., Yamada M.;
"Missense mutations in the PAX6 gene in aniridia.";
Invest. Ophthalmol. Vis. Sci. 39:2524-2528(1998).
[24]
VARIANT ASGD5 ASP-53.
PubMed=10441571; DOI=10.1086/302529;
Azuma N., Yamaguchi Y., Handa H., Hayakawa M., Kanai A., Yamada M.;
"Missense mutation in the alternative splice region of the PAX6 gene
in eye anomalies.";
Am. J. Hum. Genet. 65:656-663(1999).
[25]
ALTERNATIVE SPLICING, AND VARIANTS AN1 SER-42; LEU-53; PRO-63; GLU-79
AND GLN-208.
PubMed=10234503; DOI=10.1038/sj.ejhg.5200308;
Groenskov K., Rosenberg T., Sand A., Broendum-Nielsen K.;
"Mutational analysis of PAX6: 16 novel mutations including 5 missense
mutations with a mild aniridia phenotype.";
Eur. J. Hum. Genet. 7:274-286(1999).
[26]
VARIANTS AN1 PRO-33; PRO-43 AND ASP-126, AND VARIANT FVH1 VAL-64.
PubMed=9931324; DOI=10.1093/hmg/8.2.165;
Hanson I.M., Churchill A., Love J., Axton R., Moore T., Clarke M.,
Meire F., van Heyningen V.;
"Missense mutations in the most ancient residues of the PAX6 paired
domain underlie a spectrum of human congenital eye malformations.";
Hum. Mol. Genet. 8:165-172(1999).
[27]
VARIANTS AN1 SER-29; ARG-119 AND ALA-353.
Wildhardt G.;
Unpublished observations (APR-1999).
[28]
VARIANT AN1 37-ALA--PRO-39 DEL.
Saunders G.F.;
Unpublished observations (AUG-1999).
[29]
VARIANT NYSTAGMUS ARG-118.
PubMed=10955655; DOI=10.1007/s004170000124;
Sonoda S., Isashiki Y., Tabata Y., Kimura K., Kakiuchi T., Ohba N.;
"A novel PAX6 gene mutation (P118R) in a family with congenital
nystagmus associated with a variant form of aniridia.";
Graefes Arch. Clin. Exp. Ophthalmol. 238:552-558(2000).
[30]
VARIANT AN1 37-ARG--PRO-39 DEL, AND VARIANT ASP-387.
PubMed=10737978;
DOI=10.1002/(SICI)1098-1004(200004)15:4<332::AID-HUMU5>3.0.CO;2-1;
Chao L.-Y., Huff V., Strong L.C., Saunders G.F.;
"Mutation in the PAX6 gene in twenty patients with aniridia.";
Hum. Mutat. 15:332-339(2000).
[31]
VARIANT AN1 ARG-119.
PubMed=11553050; DOI=10.1034/j.1399-0004.2001.600210.x;
Malandrini A., Mari F., Palmeri S., Gambelli S., Berti G.,
Bruttini M., Bardelli A.M., Williamson K., van Heyningen V.,
Renieri A.;
"PAX6 mutation in a family with aniridia, congenital ptosis, and
mental retardation.";
Clin. Genet. 60:151-154(2001).
[32]
VARIANTS AN1 GLN-375 AND ARG-422.
PubMed=11309364; DOI=10.1093/hmg/10.9.911;
Singh S., Chao L.-Y., Mishra R., Davies J., Saunders G.F.;
"Missense mutation at the C-terminus of PAX6 negatively modulates
homeodomain function.";
Hum. Mol. Genet. 10:911-918(2001).
[33]
VARIANT AN1 THR-242.
PubMed=11826019; DOI=10.1136/jmg.39.1.16;
Morrison D., FitzPatrick D., Hanson I., Williamson K.,
van Heyningen V., Fleck B., Jones I., Chalmers J., Campbell H.;
"National study of microphthalmia, anophthalmia, and coloboma (MAC) in
Scotland: investigation of genetic aetiology.";
J. Med. Genet. 39:16-22(2002).
[34]
INVOLVEMENT IN OPTIC-NERVE MALFORMATIONS, VARIANT MORNING GLORY DISK
ANOMALY SER-68, VARIANT COLON SER-258, VARIANT COAD SER-258, VARIANT
ASGD5 PRO-363, AND VARIANTS BONH ILE-292; ARG-378; VAL-381 AND
ALA-391.
PubMed=12721955; DOI=10.1086/375555;
Azuma N., Yamaguchi Y., Handa H., Tadokoro K., Asaka A., Kawase E.,
Yamada M.;
"Mutations of the PAX6 gene detected in patients with a variety of
optic-nerve malformations.";
Am. J. Hum. Genet. 72:1565-1570(2003).
[35]
VARIANTS AN1 PRO-19 AND 22-PRO--ARG-26 DEL.
PubMed=12634864; DOI=10.1038/sj.ejhg.5200940;
Vincent M.-C., Pujo A.-L., Olivier D., Calvas P.;
"Screening for PAX6 gene mutations is consistent with
haploinsufficiency as the main mechanism leading to various ocular
defects.";
Eur. J. Hum. Genet. 11:163-169(2003).
[36]
VARIANTS AN1 ARG-46; ARG-52; THR-56; ASP-73 AND LYS-87, VARIANT
THR-321, CHARACTERIZATION OF VARIANTS AN1 ARG-46; ARG-52; LEU-53;
THR-56 AND ASP-73, AND CHARACTERIZATION OF VARIANT THR-321.
PubMed=12552561; DOI=10.1002/humu.10163;
Chao L.-Y., Mishra R., Strong L.C., Saunders G.F.;
"Missense mutations in the DNA-binding region and termination codon in
PAX6.";
Hum. Mutat. 21:138-145(2003).
[37]
CHARACTERIZATION OF VARIANT AN1 THR-242.
PubMed=16493447; DOI=10.1038/sj.ejhg.5201579;
D'Elia A.V., Puppin C., Pellizzari L., Pianta A., Bregant E.,
Lonigro R., Tell G., Fogolari F., van Heyningen V., Damante G.;
"Molecular analysis of a human PAX6 homeobox mutant.";
Eur. J. Hum. Genet. 14:744-751(2006).
[38]
INVOLVEMENT IN AN1.
PubMed=17595013; DOI=10.1002/ajmg.a.31808;
Graziano C., D'Elia A.V., Mazzanti L., Moscano F., Guidelli Guidi S.,
Scarano E., Turchetti D., Franzoni E., Romeo G., Damante G., Seri M.;
"A de novo nonsense mutation of PAX6 gene in a patient with aniridia,
ataxia, and mental retardation.";
Am. J. Med. Genet. A 143:1802-1805(2007).
[39]
VARIANT AN1 ARG-395.
PubMed=21850189;
Zhang X., Wang P., Li S., Xiao X., Guo X., Zhang Q.;
"Mutation spectrum of PAX6 in Chinese patients with aniridia.";
Mol. Vis. 17:2139-2147(2011).
[40]
VARIANT AN1 PRO-19.
PubMed=24033328; DOI=10.1111/cge.12275;
Chassaing N., Causse A., Vigouroux A., Delahaye A., Alessandri J.L.,
Boespflug-Tanguy O., Boute-Benejean O., Dollfus H., Duban-Bedu B.,
Gilbert-Dussardier B., Giuliano F., Gonzales M., Holder-Espinasse M.,
Isidor B., Jacquemont M.L., Lacombe D., Martin-Coignard D.,
Mathieu-Dramard M., Odent S., Picone O., Pinson L., Quelin C.,
Sigaudy S., Toutain A., Thauvin-Robinet C., Kaplan J., Calvas P.;
"Molecular findings and clinical data in a cohort of 150 patients with
anophthalmia/microphthalmia.";
Clin. Genet. 86:326-334(2014).
-!- FUNCTION: Transcription factor with important functions in the
development of the eye, nose, central nervous system and pancreas.
Required for the differentiation of pancreatic islet alpha cells
(By similarity). Competes with PAX4 in binding to a common element
in the glucagon, insulin and somatostatin promoters. Regulates
specification of the ventral neuron subtypes by establishing the
correct progenitor domains (By similarity). Isoform 5a appears to
function as a molecular switch that specifies target genes.
{ECO:0000250}.
-!- SUBUNIT: Interacts with MAF and MAFB. Interacts with TRIM11; this
interaction leads to ubiquitination and proteasomal degradation,
as well as inhibition of transactivation, possibly in part by
preventing PAX6 binding to consensus DNA sequences. {ECO:0000250}.
-!- INTERACTION:
P63168:Dynll1 (xeno); NbExp=3; IntAct=EBI-747278, EBI-349121;
Q9Y247:FAM50B; NbExp=4; IntAct=EBI-747278, EBI-742802;
O95872:GPANK1; NbExp=4; IntAct=EBI-747278, EBI-751540;
O15347:HMGB3; NbExp=4; IntAct=EBI-747278, EBI-2214136;
Q9NSC5:HOMER3; NbExp=5; IntAct=EBI-747278, EBI-748420;
P31273:HOXC8; NbExp=4; IntAct=EBI-747278, EBI-1752118;
Q08493-2:PDE4C; NbExp=4; IntAct=EBI-747278, EBI-12169289;
Q9UIG4:PSORS1C2; NbExp=4; IntAct=EBI-747278, EBI-11974061;
P63166:Sumo1 (xeno); NbExp=2; IntAct=EBI-15892945, EBI-80152;
Q3SXR9:VCX2; NbExp=4; IntAct=EBI-747278, EBI-11983741;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=P26367-1; Sequence=Displayed;
Name=5a; Synonyms=Pax6-5a;
IsoId=P26367-2; Sequence=VSP_002366;
Name=3; Synonyms=Pax6-5A,6*;
IsoId=P26367-3; Sequence=Not described;
-!- TISSUE SPECIFICITY: Fetal eye, brain, spinal cord and olfactory
epithelium. Isoform 5a is less abundant than the PAX6 shorter
form.
-!- DEVELOPMENTAL STAGE: Expressed in the developing eye and brain.
Expression in the retina peaks at fetal days 51-60. At 6-week old,
in the retina, is predominantly detected in the neural layer (at
protein level). At 8- and 10-week old, in the retina, the
expression is strongest in the inner and middle layer of the
neural part (at protein level). {ECO:0000269|PubMed:19414065}.
-!- PTM: Ubiquitinated by TRIM11, leading to ubiquitination and
proteasomal degradation. {ECO:0000250}.
-!- DISEASE: Aniridia 1 (AN1) [MIM:106210]: A congenital, bilateral,
panocular disorder characterized by complete absence of the iris
or extreme iris hypoplasia. Aniridia is not just an isolated
defect in iris development but it is associated with macular and
optic nerve hypoplasia, cataract, corneal changes, nystagmus.
Visual acuity is generally low but is unrelated to the degree of
iris hypoplasia. Glaucoma is a secondary problem causing
additional visual loss over time. {ECO:0000269|PubMed:10234503,
ECO:0000269|PubMed:10737978, ECO:0000269|PubMed:11309364,
ECO:0000269|PubMed:11553050, ECO:0000269|PubMed:11826019,
ECO:0000269|PubMed:12552561, ECO:0000269|PubMed:12634864,
ECO:0000269|PubMed:16493447, ECO:0000269|PubMed:17595013,
ECO:0000269|PubMed:21850189, ECO:0000269|PubMed:24033328,
ECO:0000269|PubMed:8364574, ECO:0000269|PubMed:9147640,
ECO:0000269|PubMed:9281415, ECO:0000269|PubMed:9792406,
ECO:0000269|PubMed:9856761, ECO:0000269|PubMed:9931324,
ECO:0000269|Ref.27, ECO:0000269|Ref.28}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- DISEASE: Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]: A
form of anterior segment dysgenesis, a group of defects affecting
anterior structures of the eye including cornea, iris, lens,
trabecular meshwork, and Schlemm canal. Anterior segment
dysgeneses result from abnormal migration or differentiation of
the neural crest derived mesenchymal cells that give rise to
components of the anterior chamber during eye development.
Different anterior segment anomalies may exist alone or in
combination, including iris hypoplasia, enlarged or reduced
corneal diameter, corneal vascularization and opacity, posterior
embryotoxon, corectopia, polycoria, abnormal iridocorneal angle,
ectopia lentis, and anterior synechiae between the iris and
posterior corneal surface. Clinical conditions falling within the
phenotypic spectrum of anterior segment dysgeneses include
aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters
anomaly, and iridogoniodysgenesis. {ECO:0000269|PubMed:10441571,
ECO:0000269|PubMed:12721955, ECO:0000269|PubMed:8162071}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form
of foveal hypoplasia, a developmental defect of the eye defined as
the lack of foveal depression with continuity of all neurosensory
retinal layers in the presumed foveal area. Clinical features
include absence of foveal pit on optical coherence tomography,
absence of foveal hyperpigmentation, absence of foveal
avascularity, absence of foveal and macular reflexes, decreased
visual acuity, and nystagmus. Anterior segment anomalies and
cataract are observed in some FVH1 patients.
{ECO:0000269|PubMed:8640214, ECO:0000269|PubMed:9931324}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Keratitis hereditary (KERH) [MIM:148190]: An ocular
disorder characterized by corneal opacification, recurrent stromal
keratitis and vascularization. {ECO:0000269|PubMed:7668281}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]:
A set of malformations resulting from abnormal morphogenesis of
the optic cup and stalk, and the fusion of the fetal fissure
(optic fissure). The clinical presentation is variable. Some
individuals may present with minimal defects in the anterior iris
leaf without other ocular defects. More complex malformations
create a combination of iris, uveoretinal and/or optic nerve
defects without or with microphthalmia or even anophthalmia.
{ECO:0000269|PubMed:12721955}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Coloboma of optic nerve (COLON) [MIM:120430]: An ocular
defect that is due to malclosure of the fetal intraocular fissure
affecting the optic nerve head. In some affected individuals, it
appears as enlargement of the physiologic cup with severely
affected eyes showing huge cavities at the site of the disk.
{ECO:0000269|PubMed:12721955}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A
congenital anomaly in which the optic disk appears abnormally
small. It may be an isolated finding or part of a spectrum of
anatomic and functional abnormalities that includes partial or
complete agenesis of the septum pellucidum, other midline brain
defects, cerebral anomalies, pituitary dysfunction, and structural
abnormalities of the pituitary. {ECO:0000269|PubMed:12721955}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Aniridia 2 (AN2) [MIM:617141]: A form of aniridia, a
congenital, bilateral, panocular disorder characterized by
complete absence of the iris or extreme iris hypoplasia. Aniridia
is not just an isolated defect in iris development but it is
associated with macular and optic nerve hypoplasia, cataract,
corneal changes, nystagmus. Visual acuity is generally low but is
unrelated to the degree of iris hypoplasia. Glaucoma is a
secondary problem causing additional visual loss over time.
{ECO:0000269|PubMed:24290376}. Note=The gene represented in this
entry is involved in disease pathogenesis. A mutation in a PAX6
long-range cis-regulatory element, known as SIMO, affects PAX6
expression in the developing eye and has pathological
consequences. The mutation is located in ELP4 intron 9, 150 kb
downstream of PAX6. {ECO:0000269|PubMed:24290376}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Human PAX6 allelic variant database web site;
URL="http://pax6.hgu.mrc.ac.uk/";
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PAX6ID211ch11p13.html";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
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EMBL; M77844; AAA59962.1; -; mRNA.
EMBL; M93650; AAA36416.1; -; mRNA.
EMBL; AY047583; AAK95849.1; -; mRNA.
EMBL; BX640762; CAE45868.1; -; mRNA.
EMBL; Z95332; CAG38363.1; -; Genomic_DNA.
EMBL; Z83307; CAG38363.1; JOINED; Genomic_DNA.
EMBL; Z83307; CAG38087.1; -; Genomic_DNA.
EMBL; Z95332; CAG38087.1; JOINED; Genomic_DNA.
EMBL; BC011953; AAH11953.1; -; mRNA.
CCDS; CCDS31451.1; -. [P26367-1]
CCDS; CCDS31452.1; -. [P26367-2]
PIR; A56674; A56674.
RefSeq; NP_000271.1; NM_000280.4. [P26367-1]
RefSeq; NP_001121084.1; NM_001127612.1. [P26367-1]
RefSeq; NP_001245393.1; NM_001258464.1. [P26367-1]
RefSeq; NP_001245394.1; NM_001258465.1. [P26367-1]
RefSeq; NP_001297088.1; NM_001310159.1.
RefSeq; NP_001297090.1; NM_001310161.1.
RefSeq; NP_001595.2; NM_001604.5. [P26367-2]
UniGene; Hs.270303; -.
UniGene; Hs.611376; -.
PDB; 2CUE; NMR; -; A=211-277.
PDB; 6PAX; X-ray; 2.50 A; A=4-136.
PDBsum; 2CUE; -.
PDBsum; 6PAX; -.
ProteinModelPortal; P26367; -.
SMR; P26367; -.
BioGrid; 111114; 48.
CORUM; P26367; -.
DIP; DIP-37436N; -.
IntAct; P26367; 114.
MINT; MINT-1465118; -.
STRING; 9606.ENSP00000368401; -.
iPTMnet; P26367; -.
PhosphoSitePlus; P26367; -.
BioMuta; PAX6; -.
DMDM; 6174889; -.
PaxDb; P26367; -.
PeptideAtlas; P26367; -.
PRIDE; P26367; -.
DNASU; 5080; -.
Ensembl; ENST00000241001; ENSP00000241001; ENSG00000007372. [P26367-1]
Ensembl; ENST00000379107; ENSP00000368401; ENSG00000007372. [P26367-2]
Ensembl; ENST00000379109; ENSP00000368403; ENSG00000007372. [P26367-1]
Ensembl; ENST00000379129; ENSP00000368424; ENSG00000007372. [P26367-2]
Ensembl; ENST00000379132; ENSP00000368427; ENSG00000007372. [P26367-1]
Ensembl; ENST00000419022; ENSP00000404100; ENSG00000007372. [P26367-2]
Ensembl; ENST00000606377; ENSP00000480026; ENSG00000007372. [P26367-2]
Ensembl; ENST00000638903; ENSP00000492296; ENSG00000007372. [P26367-2]
Ensembl; ENST00000638914; ENSP00000492315; ENSG00000007372. [P26367-1]
Ensembl; ENST00000639409; ENSP00000492476; ENSG00000007372. [P26367-2]
Ensembl; ENST00000639916; ENSP00000490963; ENSG00000007372. [P26367-1]
Ensembl; ENST00000640287; ENSP00000492822; ENSG00000007372. [P26367-1]
Ensembl; ENST00000640368; ENSP00000492024; ENSG00000007372. [P26367-2]
Ensembl; ENST00000640610; ENSP00000491295; ENSG00000007372. [P26367-1]
Ensembl; ENST00000640975; ENSP00000491872; ENSG00000007372. [P26367-2]
GeneID; 5080; -.
KEGG; hsa:5080; -.
UCSC; uc001mtg.6; human. [P26367-1]
CTD; 5080; -.
DisGeNET; 5080; -.
EuPathDB; HostDB:ENSG00000007372.20; -.
GeneCards; PAX6; -.
GeneReviews; PAX6; -.
HGNC; HGNC:8620; PAX6.
HPA; CAB034143; -.
HPA; HPA030775; -.
MalaCards; PAX6; -.
MIM; 106210; phenotype.
MIM; 120200; phenotype.
MIM; 120430; phenotype.
MIM; 136520; phenotype.
MIM; 148190; phenotype.
MIM; 165550; phenotype.
MIM; 604229; phenotype.
MIM; 607108; gene.
MIM; 617141; phenotype.
neXtProt; NX_P26367; -.
OpenTargets; ENSG00000007372; -.
Orphanet; 1065; Aniridia - cerebellar ataxia - intellectual disability.
Orphanet; 2334; Autosomal dominant keratitis.
Orphanet; 2253; Foveal hypoplasia - presenile cataract.
Orphanet; 250923; Isolated aniridia.
Orphanet; 137902; Isolated optic nerve hypoplasia.
Orphanet; 35737; Morning glory syndrome.
Orphanet; 194; Ocular coloboma.
Orphanet; 708; Peters anomaly.
Orphanet; 893; WAGR syndrome.
PharmGKB; PA32960; -.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
GeneTree; ENSGT00680000099553; -.
HOVERGEN; HBG009115; -.
InParanoid; P26367; -.
KO; K08031; -.
OMA; QTGTWGT; -.
PhylomeDB; P26367; -.
TreeFam; TF320146; -.
Reactome; R-HSA-210745; Regulation of gene expression in beta cells.
Reactome; R-HSA-381771; Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
Reactome; R-HSA-400511; Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
SignaLink; P26367; -.
SIGNOR; P26367; -.
ChiTaRS; PAX6; human.
EvolutionaryTrace; P26367; -.
GeneWiki; PAX6; -.
GenomeRNAi; 5080; -.
PRO; PR:P26367; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000007372; -.
CleanEx; HS_PAX6; -.
ExpressionAtlas; P26367; baseline and differential.
Genevisible; P26367; HS.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0000790; C:nuclear chromatin; IDA:BHF-UCL.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
GO; GO:0070410; F:co-SMAD binding; IEA:Ensembl.
GO; GO:0003677; F:DNA binding; TAS:ProtInc.
GO; GO:0035035; F:histone acetyltransferase binding; ISS:BHF-UCL.
GO; GO:0071837; F:HMG box domain binding; IEA:Ensembl.
GO; GO:0019901; F:protein kinase binding; ISS:BHF-UCL.
GO; GO:0070412; F:R-SMAD binding; IPI:BHF-UCL.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0000979; F:RNA polymerase II core promoter sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:ProtInc.
GO; GO:0008134; F:transcription factor binding; ISS:BHF-UCL.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; IEA:Ensembl.
GO; GO:0001227; F:transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding; IEA:Ensembl.
GO; GO:0031625; F:ubiquitin protein ligase binding; IEA:Ensembl.
GO; GO:0004842; F:ubiquitin-protein transferase activity; ISS:UniProtKB.
GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc.
GO; GO:0048708; P:astrocyte differentiation; IEA:Ensembl.
GO; GO:0007411; P:axon guidance; IEA:Ensembl.
GO; GO:0001568; P:blood vessel development; IMP:DFLAT.
GO; GO:0001709; P:cell fate determination; IEA:Ensembl.
GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEA:Ensembl.
GO; GO:0007417; P:central nervous system development; TAS:ProtInc.
GO; GO:0021796; P:cerebral cortex regionalization; IEA:Ensembl.
GO; GO:0021902; P:commitment of neuronal cell to specific neuron type in forebrain; IEA:Ensembl.
GO; GO:0061303; P:cornea development in camera-type eye; IMP:DFLAT.
GO; GO:0009950; P:dorsal/ventral axis specification; IEA:Ensembl.
GO; GO:0048596; P:embryonic camera-type eye morphogenesis; IEA:Ensembl.
GO; GO:0000132; P:establishment of mitotic spindle orientation; IEA:Ensembl.
GO; GO:0001654; P:eye development; TAS:ProtInc.
GO; GO:0042462; P:eye photoreceptor cell development; IEA:Ensembl.
GO; GO:0021798; P:forebrain dorsal/ventral pattern formation; IEA:Ensembl.
GO; GO:0021905; P:forebrain-midbrain boundary formation; IEA:Ensembl.
GO; GO:0042593; P:glucose homeostasis; IMP:DFLAT.
GO; GO:0021986; P:habenula development; IEA:Ensembl.
GO; GO:0061072; P:iris morphogenesis; IMP:DFLAT.
GO; GO:0030216; P:keratinocyte differentiation; IEA:Ensembl.
GO; GO:0032808; P:lacrimal gland development; IEA:Ensembl.
GO; GO:0002088; P:lens development in camera-type eye; IEA:Ensembl.
GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IEA:Ensembl.
GO; GO:2000178; P:negative regulation of neural precursor cell proliferation; IEA:Ensembl.
GO; GO:0050768; P:negative regulation of neurogenesis; ISS:UniProtKB.
GO; GO:0045665; P:negative regulation of neuron differentiation; IEA:Ensembl.
GO; GO:0001933; P:negative regulation of protein phosphorylation; IEA:Ensembl.
GO; GO:0048663; P:neuron fate commitment; NAS:UniProtKB.
GO; GO:0001764; P:neuron migration; IEA:Ensembl.
GO; GO:0021778; P:oligodendrocyte cell fate specification; IEA:Ensembl.
GO; GO:0003322; P:pancreatic A cell development; IMP:BHF-UCL.
GO; GO:0021983; P:pituitary gland development; IEA:Ensembl.
GO; GO:0030858; P:positive regulation of epithelial cell differentiation; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; IMP:BHF-UCL.
GO; GO:0002052; P:positive regulation of neuroblast proliferation; IEA:Ensembl.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; ISS:BHF-UCL.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IMP:BHF-UCL.
GO; GO:0033365; P:protein localization to organelle; IEA:Ensembl.
GO; GO:0009786; P:regulation of asymmetric cell division; IEA:Ensembl.
GO; GO:0030334; P:regulation of cell migration; IEA:Ensembl.
GO; GO:0048505; P:regulation of timing of cell differentiation; IEA:Ensembl.
GO; GO:0021918; P:regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment; IEA:Ensembl.
GO; GO:0021912; P:regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; IEA:Ensembl.
GO; GO:0021913; P:regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; IEA:Ensembl.
GO; GO:0009611; P:response to wounding; IEP:UniProtKB.
GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
GO; GO:0007435; P:salivary gland morphogenesis; IEA:Ensembl.
GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
GO; GO:0006366; P:transcription from RNA polymerase II promoter; IMP:BHF-UCL.
GO; GO:0003309; P:type B pancreatic cell differentiation; IEA:Ensembl.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
CDD; cd00086; homeodomain; 1.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR001523; Paired_dom.
InterPro; IPR036388; WH-like_DNA-bd_sf.
Pfam; PF00046; Homeobox; 1.
Pfam; PF00292; PAX; 1.
PRINTS; PR00027; PAIREDBOX.
SMART; SM00389; HOX; 1.
SMART; SM00351; PAX; 1.
SUPFAM; SSF46689; SSF46689; 2.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
PROSITE; PS00034; PAIRED_1; 1.
PROSITE; PS51057; PAIRED_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Complete proteome;
Developmental protein; Differentiation; Disease mutation; DNA-binding;
Homeobox; Nucleus; Paired box; Peters anomaly; Reference proteome;
Repressor; Transcription; Transcription regulation; Ubl conjugation.
CHAIN 1 422 Paired box protein Pax-6.
/FTId=PRO_0000050185.
DOMAIN 4 130 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
DNA_BIND 210 269 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
COMPBIAS 131 209 Gln/Gly-rich.
COMPBIAS 279 422 Pro/Ser/Thr-rich.
VAR_SEQ 47 47 Q -> QTHADAKVQVLDNQN (in isoform 5a).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_002366.
VARIANT 17 17 N -> S (in AN1).
{ECO:0000269|PubMed:9856761}.
/FTId=VAR_003808.
VARIANT 18 18 G -> W (in AN1).
{ECO:0000269|PubMed:9792406}.
/FTId=VAR_003809.
VARIANT 19 19 R -> P (in AN1).
{ECO:0000269|PubMed:12634864,
ECO:0000269|PubMed:24033328}.
/FTId=VAR_047860.
VARIANT 22 26 Missing (in AN1).
{ECO:0000269|PubMed:12634864,
ECO:0000269|PubMed:9281415}.
/FTId=VAR_008693.
VARIANT 26 26 R -> G (in ASGD5; dbSNP:rs121907913).
{ECO:0000269|PubMed:8162071,
ECO:0000269|PubMed:9147640}.
/FTId=VAR_003810.
VARIANT 29 29 I -> S (in AN1). {ECO:0000269|Ref.27}.
/FTId=VAR_008694.
VARIANT 29 29 I -> V (in AN1).
{ECO:0000269|PubMed:9856761}.
/FTId=VAR_003811.
VARIANT 33 33 A -> P (in AN1).
{ECO:0000269|PubMed:9931324}.
/FTId=VAR_008695.
VARIANT 37 39 Missing (in AN1). {ECO:0000269|Ref.28}.
/FTId=VAR_008696.
VARIANT 42 42 I -> S (in AN1; mild).
{ECO:0000269|PubMed:10234503}.
/FTId=VAR_008697.
VARIANT 43 43 S -> P (in AN1).
{ECO:0000269|PubMed:9931324}.
/FTId=VAR_008698.
VARIANT 44 44 R -> Q (in AN1).
{ECO:0000269|PubMed:9856761}.
/FTId=VAR_003812.
VARIANT 46 46 L -> R (in AN1; shows almost no binding
efficiency; transcriptional activation
ability is about 50% lower than that of
the wild-type protein).
{ECO:0000269|PubMed:12552561}.
/FTId=VAR_047861.
VARIANT 52 52 C -> R (in AN1; shows almost no binding
efficiency; transcriptional activation
ability is about 50% lower than that of
the wild-type protein).
{ECO:0000269|PubMed:12552561}.
/FTId=VAR_047862.
VARIANT 53 53 V -> D (in ASGD5; also found in patients
with congenital cataract and foveal
hypoplasia).
{ECO:0000269|PubMed:10441571}.
/FTId=VAR_008700.
VARIANT 53 53 V -> L (in AN1; mild; shows 50% lower
DNA-binding and transactivation ability
than the wild-type protein).
{ECO:0000269|PubMed:10234503,
ECO:0000269|PubMed:12552561}.
/FTId=VAR_008699.
VARIANT 56 56 I -> T (in AN1; shows only one-quarter to
one-third the binding ability of the
normal wild-type protein; exhibits normal
transactivation).
{ECO:0000269|PubMed:12552561}.
/FTId=VAR_047863.
VARIANT 63 63 T -> P (in AN1; mild).
{ECO:0000269|PubMed:10234503}.
/FTId=VAR_008701.
VARIANT 64 64 G -> V (in foveal hypoplasia; associated
with presenile cataract syndrome;
dbSNP:rs121907920).
{ECO:0000269|PubMed:9931324}.
/FTId=VAR_008702.
VARIANT 68 68 P -> S (in morning glory disk anomaly;
significant impairment of transcriptional
activation ability; dbSNP:rs121907923).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017540.
VARIANT 73 73 G -> D (in AN1; shows almost no binding
efficiency; transcriptional activation
ability is about 80% of that of the wild-
type protein).
{ECO:0000269|PubMed:12552561}.
/FTId=VAR_047864.
VARIANT 79 79 A -> E (in AN1; mild).
{ECO:0000269|PubMed:10234503}.
/FTId=VAR_008703.
VARIANT 87 87 I -> K (in AN1).
{ECO:0000269|PubMed:12552561}.
/FTId=VAR_047865.
VARIANT 87 87 I -> R (in AN1; loss of activity).
{ECO:0000269|PubMed:9147640}.
/FTId=VAR_003813.
VARIANT 118 118 P -> R (in a family with nystagmus
associated with a variant form of
aniridia). {ECO:0000269|PubMed:10955655}.
/FTId=VAR_015065.
VARIANT 119 119 S -> R (in AN1; dbSNP:rs121907928).
{ECO:0000269|PubMed:11553050,
ECO:0000269|Ref.27}.
/FTId=VAR_008704.
VARIANT 125 125 R -> C (in FVH1; isolated).
{ECO:0000269|PubMed:8640214}.
/FTId=VAR_017541.
VARIANT 126 126 V -> D (in AN1; atypical form;
dbSNP:rs121907919).
{ECO:0000269|PubMed:9931324}.
/FTId=VAR_008705.
VARIANT 128 128 R -> C (in FVH1; isolated;
dbSNP:rs121907918).
{ECO:0000269|PubMed:8640214}.
/FTId=VAR_003814.
VARIANT 178 178 Q -> H (in AN1).
{ECO:0000269|PubMed:9856761}.
/FTId=VAR_003815.
VARIANT 208 208 R -> Q (in AN1; mild; dbSNP:rs749244084).
{ECO:0000269|PubMed:10234503}.
/FTId=VAR_008706.
VARIANT 208 208 R -> W (in AN1; dbSNP:rs757259413).
{ECO:0000269|PubMed:8364574}.
/FTId=VAR_003816.
VARIANT 242 242 R -> T (in AN1; the mutant homeodomain
binds DNA as well as the wild-type
homeodomain; the mutant does not modify
the DNA-binding properties of the paired
domain; the steady-state levels of the
full-length mutant protein are higher
than those of the wild-type one; a
responsive promoter is activated to a
higher extent by the mutant protein than
by the wild-type protein; the presence of
the mutation reduces sensitivity to
trypsin digestion; dbSNP:rs121907927).
{ECO:0000269|PubMed:11826019,
ECO:0000269|PubMed:16493447}.
/FTId=VAR_047866.
VARIANT 258 258 F -> S (in COAD and COLON; significant
impairment of transcriptional activation
ability; dbSNP:rs121907925).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017542.
VARIANT 292 292 S -> I (in BONH; significant impairment
of ability to activate transcription).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017543.
VARIANT 321 321 A -> T (shows about two-fold higher
binding efficiency than the normal wild-
type protein; transcriptional activation
ability is about 89% of that of the wild-
type protein).
{ECO:0000269|PubMed:12552561}.
/FTId=VAR_047867.
VARIANT 353 353 S -> A (in AN1; dbSNP:rs373661718).
{ECO:0000269|Ref.27}.
/FTId=VAR_008707.
VARIANT 363 363 S -> P (in ASGD5).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017544.
VARIANT 375 375 P -> Q (in AN1; reduced DNA binding
ability; dbSNP:rs200015827).
{ECO:0000269|PubMed:11309364}.
/FTId=VAR_015066.
VARIANT 378 378 Q -> R (in optic nerve aplasia).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017545.
VARIANT 381 381 M -> V (in BONH).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017546.
VARIANT 387 387 G -> D. {ECO:0000269|PubMed:10737978}.
/FTId=VAR_047868.
VARIANT 391 391 T -> A (in BONH; dbSNP:rs121907926).
{ECO:0000269|PubMed:12721955}.
/FTId=VAR_017547.
VARIANT 395 395 G -> R (in AN1).
{ECO:0000269|PubMed:21850189}.
/FTId=VAR_067698.
VARIANT 422 422 Q -> R (in AN1 and ocular anterior
segment anomalies; loss of DNA binding
ability; dbSNP:rs780356070).
{ECO:0000269|PubMed:11309364,
ECO:0000269|PubMed:9538891}.
/FTId=VAR_008708.
CONFLICT 317 317 R -> L (in Ref. 1; AAA59962).
{ECO:0000305}.
CONFLICT 369 369 Y -> C (in Ref. 4; CAE45868).
{ECO:0000305}.
STRAND 6 8 {ECO:0000244|PDB:6PAX}.
STRAND 14 16 {ECO:0000244|PDB:6PAX}.
HELIX 23 34 {ECO:0000244|PDB:6PAX}.
HELIX 39 46 {ECO:0000244|PDB:6PAX}.
HELIX 50 63 {ECO:0000244|PDB:6PAX}.
STRAND 77 79 {ECO:0000244|PDB:6PAX}.
HELIX 81 93 {ECO:0000244|PDB:6PAX}.
HELIX 99 108 {ECO:0000244|PDB:6PAX}.
TURN 114 116 {ECO:0000244|PDB:6PAX}.
HELIX 120 133 {ECO:0000244|PDB:6PAX}.
HELIX 219 229 {ECO:0000244|PDB:2CUE}.
HELIX 237 246 {ECO:0000244|PDB:2CUE}.
HELIX 251 275 {ECO:0000244|PDB:2CUE}.
SEQUENCE 422 AA; 46683 MW; C33CDD2C1B13C397 CRC64;
MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ
EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR
ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ TSSYSCMLPT
SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG VSVPVQVPGS EPDMSQYWPR
LQ


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GWB-B57FD0 Anti- PAX6 (paired box gene 6 (aniridia. keratitis)) Antibody
18-003-43167 Diencephalon_mesencephalon homeobox protein 1 - Diencephalon_mesencephalon-expressed brain homeobox gene 1 protein; Paired-like homeobox protein DMBX1; Paired-type homeobox Atx; Orthodenticle homolog 0.05 mg Aff Pur
EIAAB30960 Aristaless homeobox protein homolog,ARIX,ARIX1 homeodomain protein,Homo sapiens,Human,Paired mesoderm homeobox protein 2A,Paired-like homeobox 2A,PHOX2A,PMX2A
EIAAB32588 Homeobox protein K-2,Homeobox protein mHox,Mouse,Mus musculus,Paired mesoderm homeobox protein 1,Paired-related homeobox protein 1,Pmx,Pmx1,Prrx1,PRX-1
EIAAB30959 Aristaless homeobox protein homolog,Arix,ARIX1 homeodomain protein,Paired mesoderm homeobox protein 2A,Paired-like homeobox 2A,Phox2a,Pmx2a,Rat,Rattus norvegicus
EIAAB32587 Homeobox protein PHOX1,Homo sapiens,Human,Paired mesoderm homeobox protein 1,Paired-related homeobox protein 1,PMX1,PRRX1,PRX-1
EIAAB30961 Aristaless homeobox protein homolog,Arix,Mouse,Mus musculus,Paired mesoderm homeobox protein 2A,Paired-like homeobox 2A,Phox2,Phox2a,PHOX2A homeodomain protein,Pmx2,Pmx2a
EIAAB32591 Homo sapiens,Human,Paired mesoderm homeobox protein 2,Paired-related homeobox protein 2,PMX2,PRRX2,PRX2,PRX-2
EIAAB32585 Paired mesoderm homeobox protein 1,Paired-related homeobox protein 1,Prrx1,PRX-1,Rat,Rattus norvegicus,rHox
LF-PA40871 anti-Paired box protein Pax-8, Goat polyclonal to Paired box protein Pax-8, Isotype IgG, Host Goat 50
EIAAB30963 Homo sapiens,Human,NBPhox,Neuroblastoma Phox,Paired mesoderm homeobox protein 2B,Paired-like homeobox 2B,PHOX2B,PHOX2B homeodomain protein,PMX2B
EIAAB30962 Mouse,Mus musculus,NBPhox,Neuroblastoma Phox,Paired mesoderm homeobox protein 2B,Paired-like homeobox 2B,Phox2b,PHOX2B homeodomain protein,Pmx2b
EIAAB32586 Chicken,Gallus gallus,GMHOX,Homeobox protein MHOX,MHOX,Paired mesoderm homeobox protein 1,Paired-related homeobox protein 1,PMX1,PRRX1,PRX1,PRX-1
27-583 PAX7 is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes 0.05 mg
30-352 PAX8 is a member of the paired box (PAX) family of transcription factors. Members of this family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear prot 0.05 mg
27-493 PAX4 is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes 0.05 mg
25-064 PAX7 is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes 0.05 mg


 

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