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Paired box protein Pax-6 (Oculorhombin)

 PAX6_MOUSE              Reviewed;         422 AA.
P63015; P32117; P70601; Q3UTV5; Q62222; Q64037; Q8CEI5; Q8VDB5;
Q921Q8;
31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
31-AUG-2004, sequence version 1.
20-JUN-2018, entry version 153.
RecName: Full=Paired box protein Pax-6;
AltName: Full=Oculorhombin;
Name=Pax6; Synonyms=Pax-6, Sey;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 5A), AND PARTIAL PROTEIN
SEQUENCE.
PubMed=1687460;
Walther C., Gruss P.;
"Pax-6, a murine paired box gene, is expressed in the developing
CNS.";
Development 113:1435-1449(1991).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 5A), AND VARIANT PRO-259.
STRAIN=C3H/HeJ; TISSUE=Head;
PubMed=11779807;
Favor J., Peters H., Hermann T., Schmahl W., Chatterjee B.,
Neuhauser-Klaus A., Sandulache R.;
"Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an
extension of the Pax6 allelic series and the identification of two
possible hypomorph alleles in the mouse Mus musculus.";
Genetics 159:1689-1700(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
STRAIN=C57BL/6J; TISSUE=Cerebellum;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5A).
STRAIN=Czech II; TISSUE=Eye, and Mammary tumor;
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).
[5]
NUCLEOTIDE SEQUENCE [MRNA] OF 4-131 (ISOFORM 1).
PubMed=1685142;
Walther C., Guenet J.-L., Simon D., Deutsch U., Jostes B.,
Goulding M.D., Plachov D., Balling R., Gruss P.;
"Pax: a murine multigene family of paired box-containing genes.";
Genomics 11:424-434(1991).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 45-422 (ISOFORM 1).
TISSUE=Embryo;
PubMed=1612585; DOI=10.1016/0888-7543(92)90239-O;
Ton C.C.T., Miwa H., Saunders G.F.;
"Small eye (Sey): cloning and characterization of the murine homolog
of the human aniridia gene.";
Genomics 13:251-256(1992).
[7]
INVOLVEMENT IN SEY.
PubMed=1684639; DOI=10.1038/354522a0;
Hill R.E., Favor J., Hogan B.L.M., Ton C.C.T., Saunders G.F.,
Hanson I.M., Prosser J., Jordan T., Hastie N.D., van Heyningen V.;
"Mouse small eye results from mutations in a paired-like homeobox-
containing gene.";
Nature 354:522-525(1991).
[8]
FUNCTION IN PANCREAS.
PubMed=9163426; DOI=10.1038/387406a0;
St Onge L., Sosa-Pineda B., Chowdhury K., Mansouri A., Gruss P.;
"Pax6 is required for differentiation of glucagon-producing alpha-
cells in mouse pancreas.";
Nature 387:406-409(1997).
[9]
INTERACTION WITH MAF AND MAFB.
PubMed=17901057; DOI=10.1074/jbc.M702795200;
Gosmain Y., Avril I., Mamin A., Philippe J.;
"Pax-6 and c-Maf functionally interact with the alpha-cell-specific
DNA element G1 in vivo to promote glucagon gene expression.";
J. Biol. Chem. 282:35024-35034(2007).
[10]
INTERACTION WITH TRIM11, UBIQUITINATION, AND DEVELOPMENTAL STAGE.
PubMed=18628401; DOI=10.1101/gad.471708;
Tuoc T.C., Stoykova A.;
"Trim11 modulates the function of neurogenic transcription factor Pax6
through ubiquitin-proteosome system.";
Genes Dev. 22:1972-1986(2008).
[11]
TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND SUMOYLATION.
PubMed=21084637; DOI=10.1073/pnas.1007866107;
Yan Q., Gong L., Deng M., Zhang L., Sun S., Liu J., Ma H., Yuan D.,
Chen P.C., Hu X., Liu J., Qin J., Xiao L., Huang X.Q., Zhang J.,
Li D.W.;
"Sumoylation activates the transcriptional activity of Pax-6, an
important transcription factor for eye and brain development.";
Proc. Natl. Acad. Sci. U.S.A. 107:21034-21039(2010).
-!- 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.
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). {ECO:0000250,
ECO:0000269|PubMed:9163426}.
-!- 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:0000269|PubMed:17901057, ECO:0000269|PubMed:18628401}.
-!- INTERACTION:
O35845:Smarca4; NbExp=2; IntAct=EBI-1395428, EBI-371515;
P63166:Sumo1; NbExp=2; IntAct=EBI-1395428, EBI-80152;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=P63015-1; Sequence=Displayed;
Name=5a; Synonyms=Pax6-5a;
IsoId=P63015-2; Sequence=VSP_011530;
Name=3; Synonyms=p32;
IsoId=P63015-3; Sequence=VSP_054294;
-!- TISSUE SPECIFICITY: Isoform 1 and isoform 3 are the major isoforms
among different eye tissues. Isoform 1 and isoform 3 are expressed
in the retina and cornea. In the lens epithelium, isoform 1 is
relatively abundant, but isoform 3 is barely detectable.
{ECO:0000269|PubMed:21084637}.
-!- DEVELOPMENTAL STAGE: Expressed in the developing eye, nose, brain
and pancreas. At 9 dpc, expressed in the telencephalon,
diencephalon, neural tube, optic vesicle and pancreas. Throughout
development, expression continues in the dorsal and ventral
pancreas. Expressed during cortical neurogenesis from 11 to 18
dpc. High levels in the early radial glial progenitors from 11 to
14 dpc and gradually decrease thereafter (at protein level).
During corticogenesis, the protein level declines faster than that
of the mRNA, due to proteasomal degradation. In newborn animals,
becomes restricted to endocrine cells of the islets of Langerhans.
Isoform 3 is expressed in the developing eye at day 9.5 of
embryonic development and the expression becomes much stronger at
day 11.5 of embryonic development. At these stages, it is detected
in neural tube and optic and lens vesicles. Isoform 3 expression
is down-regulated by day 12.5 of embryonic development and becomes
significantly decreased from day 14.5 to day 18.5 of embryonic
development. Isoform 1 and isoform 3 are the major isoforms in the
eye tissues of newborn mice, but a considerable amount of isoform
5a is also detected. {ECO:0000269|PubMed:18628401,
ECO:0000269|PubMed:21084637}.
-!- PTM: Ubiquitinated by TRIM11, leading to ubiquitination and
proteasomal degradation. Isoform 3 is sumoylated by SUMO1 at 'Lys-
91'. {ECO:0000269|PubMed:18628401, ECO:0000269|PubMed:21084637}.
-!- DISEASE: Note=Defects in Pax6 are the cause of a condition known
as small eye (Sey) which results in the complete lack of eyes and
nasal primordia. {ECO:0000269|PubMed:1684639}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAA40109.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
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EMBL; X63963; CAA45379.1; -; mRNA.
EMBL; X63963; CAA45380.1; -; mRNA.
EMBL; Y19196; CAC80516.1; -; Genomic_DNA.
EMBL; Y19199; CAC80519.1; -; Genomic_DNA.
EMBL; AK028059; BAC25729.1; -; mRNA.
EMBL; AK139054; BAE23875.1; -; mRNA.
EMBL; BC011272; AAH11272.1; -; mRNA.
EMBL; BC036957; AAH36957.1; -; mRNA.
EMBL; M77842; AAA40109.1; ALT_INIT; mRNA.
CCDS; CCDS16499.1; -. [P63015-2]
CCDS; CCDS57181.1; -. [P63015-1]
PIR; S42234; S42234.
RefSeq; NP_001231127.1; NM_001244198.2. [P63015-2]
RefSeq; NP_001231129.1; NM_001244200.2. [P63015-2]
RefSeq; NP_001231130.1; NM_001244201.2. [P63015-1]
RefSeq; NP_001231131.1; NM_001244202.2. [P63015-1]
RefSeq; NP_001297073.1; NM_001310144.1. [P63015-1]
RefSeq; NP_001297074.1; NM_001310145.1. [P63015-3]
RefSeq; NP_001297075.1; NM_001310146.1. [P63015-3]
RefSeq; NP_038655.1; NM_013627.6. [P63015-2]
UniGene; Mm.3608; -.
UniGene; Mm.487124; -.
ProteinModelPortal; P63015; -.
SMR; P63015; -.
BioGrid; 202033; 16.
DIP; DIP-38879N; -.
IntAct; P63015; 4.
MINT; P63015; -.
STRING; 10090.ENSMUSP00000087870; -.
iPTMnet; P63015; -.
PhosphoSitePlus; P63015; -.
MaxQB; P63015; -.
PaxDb; P63015; -.
PRIDE; P63015; -.
Ensembl; ENSMUST00000090391; ENSMUSP00000087870; ENSMUSG00000027168. [P63015-2]
Ensembl; ENSMUST00000090397; ENSMUSP00000087878; ENSMUSG00000027168. [P63015-1]
Ensembl; ENSMUST00000111082; ENSMUSP00000106711; ENSMUSG00000027168. [P63015-1]
Ensembl; ENSMUST00000111083; ENSMUSP00000106712; ENSMUSG00000027168. [P63015-1]
Ensembl; ENSMUST00000111085; ENSMUSP00000106714; ENSMUSG00000027168. [P63015-2]
Ensembl; ENSMUST00000111086; ENSMUSP00000106715; ENSMUSG00000027168. [P63015-2]
Ensembl; ENSMUST00000111087; ENSMUSP00000106716; ENSMUSG00000027168. [P63015-1]
Ensembl; ENSMUST00000167211; ENSMUSP00000129344; ENSMUSG00000027168. [P63015-2]
GeneID; 18508; -.
KEGG; mmu:18508; -.
UCSC; uc008lku.2; mouse. [P63015-2]
UCSC; uc008lkv.2; mouse. [P63015-1]
CTD; 5080; -.
MGI; MGI:97490; Pax6.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
GeneTree; ENSGT00680000099553; -.
HOVERGEN; HBG009115; -.
InParanoid; P63015; -.
KO; K08031; -.
OMA; QATWESG; -.
OrthoDB; EOG091G0S4E; -.
TreeFam; TF320146; -.
ChiTaRS; Pax6; mouse.
PRO; PR:P63015; -.
Proteomes; UP000000589; Chromosome 2.
Bgee; ENSMUSG00000027168; -.
CleanEx; MM_PAX6; -.
ExpressionAtlas; P63015; baseline and differential.
Genevisible; P63015; MM.
GO; GO:0005737; C:cytoplasm; ISO:MGI.
GO; GO:0005829; C:cytosol; ISO:MGI.
GO; GO:0005622; C:intracellular; IDA:MGI.
GO; GO:0000790; C:nuclear chromatin; IDA:BHF-UCL.
GO; GO:0005654; C:nucleoplasm; ISO:MGI.
GO; GO:0005634; C:nucleus; IDA:MGI.
GO; GO:0005667; C:transcription factor complex; TAS:MGI.
GO; GO:0003680; F:AT DNA binding; ISO:MGI.
GO; GO:0003682; F:chromatin binding; IDA:MGI.
GO; GO:0070410; F:co-SMAD binding; IDA:BHF-UCL.
GO; GO:0003677; F:DNA binding; IDA:MGI.
GO; GO:0003700; F:DNA binding transcription factor activity; IDA:MGI.
GO; GO:0003690; F:double-stranded DNA binding; ISO:MGI.
GO; GO:0035035; F:histone acetyltransferase binding; IDA:BHF-UCL.
GO; GO:0071837; F:HMG box domain binding; IPI:UniProtKB.
GO; GO:0019901; F:protein kinase binding; IPI:BHF-UCL.
GO; GO:0070412; F:R-SMAD binding; IDA:BHF-UCL.
GO; GO:0000979; F:RNA polymerase II core promoter sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
GO; GO:0008134; F:transcription factor binding; IPI:BHF-UCL.
GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:MGI.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:MGI.
GO; GO:0001227; F:transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:MGI.
GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:UniProtKB.
GO; GO:0009952; P:anterior/posterior pattern specification; IMP:MGI.
GO; GO:0048708; P:astrocyte differentiation; IMP:MGI.
GO; GO:0007411; P:axon guidance; IMP:MGI.
GO; GO:0007409; P:axonogenesis; IMP:MGI.
GO; GO:0001568; P:blood vessel development; ISO:MGI.
GO; GO:0007420; P:brain development; IMP:MGI.
GO; GO:0043010; P:camera-type eye development; IMP:MGI.
GO; GO:0030154; P:cell differentiation; IMP:MGI.
GO; GO:0045165; P:cell fate commitment; IMP:MGI.
GO; GO:0001709; P:cell fate determination; IMP:MGI.
GO; GO:1990830; P:cellular response to leukemia inhibitory factor; IEP:MGI.
GO; GO:0021796; P:cerebral cortex regionalization; IMP:MGI.
GO; GO:0021902; P:commitment of neuronal cell to specific neuron type in forebrain; IMP:MGI.
GO; GO:0061303; P:cornea development in camera-type eye; ISO:MGI.
GO; GO:0009950; P:dorsal/ventral axis specification; IMP:MGI.
GO; GO:0009953; P:dorsal/ventral pattern formation; IMP:MGI.
GO; GO:0048596; P:embryonic camera-type eye morphogenesis; IGI:MGI.
GO; GO:0002064; P:epithelial cell development; ISO:MGI.
GO; GO:0000132; P:establishment of mitotic spindle orientation; IMP:MGI.
GO; GO:0042462; P:eye photoreceptor cell development; IMP:MGI.
GO; GO:0030900; P:forebrain development; IMP:MGI.
GO; GO:0021798; P:forebrain dorsal/ventral pattern formation; IMP:MGI.
GO; GO:0021905; P:forebrain-midbrain boundary formation; IMP:MGI.
GO; GO:0042593; P:glucose homeostasis; ISO:MGI.
GO; GO:0021986; P:habenula development; IMP:MGI.
GO; GO:0030902; P:hindbrain development; ISO:MGI.
GO; GO:1901142; P:insulin metabolic process; ISO:MGI.
GO; GO:0022027; P:interkinetic nuclear migration; ISO:MGI.
GO; GO:0061072; P:iris morphogenesis; ISO:MGI.
GO; GO:0030216; P:keratinocyte differentiation; IMP:MGI.
GO; GO:0032808; P:lacrimal gland development; IMP:MGI.
GO; GO:0098598; P:learned vocalization behavior or vocal learning; ISO:MGI.
GO; GO:0002088; P:lens development in camera-type eye; IMP:MGI.
GO; GO:0008285; P:negative regulation of cell proliferation; IMP:MGI.
GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IMP:MGI.
GO; GO:2000178; P:negative regulation of neural precursor cell proliferation; IMP:MGI.
GO; GO:0045665; P:negative regulation of neuron differentiation; IGI:MGI.
GO; GO:0001933; P:negative regulation of protein phosphorylation; IMP:MGI.
GO; GO:0001755; P:neural crest cell migration; ISO:MGI.
GO; GO:0061351; P:neural precursor cell proliferation; ISO:MGI.
GO; GO:0001764; P:neuron migration; IMP:MGI.
GO; GO:0021772; P:olfactory bulb development; ISO:MGI.
GO; GO:0061034; P:olfactory bulb mitral cell layer development; ISO:MGI.
GO; GO:0021778; P:oligodendrocyte cell fate specification; IMP:MGI.
GO; GO:0021543; P:pallium development; IMP:MGI.
GO; GO:0003322; P:pancreatic A cell development; IMP:BHF-UCL.
GO; GO:0003310; P:pancreatic A cell differentiation; ISO:MGI.
GO; GO:0021983; P:pituitary gland development; IMP:MGI.
GO; GO:0010942; P:positive regulation of cell death; ISO:MGI.
GO; GO:0042660; P:positive regulation of cell fate specification; ISO:MGI.
GO; GO:0030858; P:positive regulation of epithelial cell differentiation; IMP:MGI.
GO; GO:0010628; P:positive regulation of gene expression; IMP:BHF-UCL.
GO; GO:0070094; P:positive regulation of glucagon secretion; ISO:MGI.
GO; GO:0120008; P:positive regulation of glutamatergic neuron differentiation; ISO:MGI.
GO; GO:0002052; P:positive regulation of neuroblast proliferation; IMP:MGI.
GO; GO:2001224; P:positive regulation of neuron migration; ISO:MGI.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:BHF-UCL.
GO; GO:0033365; P:protein localization to organelle; IMP:MGI.
GO; GO:0003002; P:regionalization; IMP:MGI.
GO; GO:0009786; P:regulation of asymmetric cell division; IMP:MGI.
GO; GO:0030334; P:regulation of cell migration; IMP:MGI.
GO; GO:0010468; P:regulation of gene expression; IMP:MGI.
GO; GO:0050767; P:regulation of neurogenesis; IMP:MGI.
GO; GO:0045664; P:regulation of neuron differentiation; ISO:MGI.
GO; GO:0010975; P:regulation of neuron projection development; ISO:MGI.
GO; GO:0048505; P:regulation of timing of cell differentiation; IMP:MGI.
GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IMP:MGI.
GO; GO:0021918; P:regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment; IMP:MGI.
GO; GO:0021912; P:regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; IMP:MGI.
GO; GO:0021913; P:regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; IMP:MGI.
GO; GO:0006355; P:regulation of transcription, DNA-templated; TAS:MGI.
GO; GO:0009611; P:response to wounding; IEA:Ensembl.
GO; GO:0060041; P:retina development in camera-type eye; IGI:MGI.
GO; GO:0021593; P:rhombomere morphogenesis; ISO:MGI.
GO; GO:0007435; P:salivary gland morphogenesis; IMP:MGI.
GO; GO:1904937; P:sensory neuron migration; ISO:MGI.
GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IDA:MGI.
GO; GO:0007224; P:smoothened signaling pathway; IDA:MGI.
GO; GO:0021978; P:telencephalon regionalization; IMP:MGI.
GO; GO:0006366; P:transcription by RNA polymerase II; IMP:BHF-UCL.
GO; GO:0003309; P:type B pancreatic cell differentiation; IMP:MGI.
CDD; cd00086; homeodomain; 1.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like_sf.
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;
Alternative splicing; Complete proteome; Developmental protein;
Differentiation; Direct protein sequencing; Disease mutation;
DNA-binding; Homeobox; Nucleus; Paired box; Reference proteome;
Transcription; Transcription regulation; Ubl conjugation.
CHAIN 1 422 Paired box protein Pax-6.
/FTId=PRO_0000050186.
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 1 136 Missing (in isoform 3).
{ECO:0000303|PubMed:16141072}.
/FTId=VSP_054294.
VAR_SEQ 47 47 Q -> QTHADAKVQVLDNEN (in isoform 5a).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:1687460}.
/FTId=VSP_011530.
VARIANT 259 259 S -> P (in Pax6(4Neu); defective).
{ECO:0000269|PubMed:11779807}.
CONFLICT 18 18 G -> E (in Ref. 3; BAC25729).
{ECO:0000305}.
CONFLICT 31 31 E -> Q (in Ref. 3; BAC25729).
{ECO:0000305}.
CONFLICT 287 287 I -> T (in Ref. 6; AAA40109).
{ECO:0000305}.
CONFLICT 421 422 Missing (in Ref. 6; AAA40109).
{ECO:0000305}.
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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