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Paired box protein Pax-6 (Oculorhombin)

 PAX6_RAT                Reviewed;         422 AA.
P63016; A1A5N7; P32117; P70601; Q62222; Q64037; Q6QHS5; Q701Q8;
31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
31-AUG-2004, sequence version 1.
22-NOV-2017, entry version 122.
RecName: Full=Paired box protein Pax-6;
AltName: Full=Oculorhombin;
Name=Pax6; Synonyms=Pax-6, Sey;
Rattus norvegicus (Rat).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Rattus.
NCBI_TaxID=10116;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5A), SUBCELLULAR LOCATION,
ALTERNATIVE SPLICING, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
STRAIN=Sprague-Dawley; TISSUE=Brain;
PubMed=24952136; DOI=10.1016/j.gene.2014.06.032;
Wei F., Li M., Cheng S.Y., Wen L., Liu M.H., Shuai J.;
"Cloning, expression, and functional characterization of the rat Pax6
5a orthologous splicing variant.";
Gene 547:169-174(2014).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Gimlich R., Arnold G.S., Wawersik S., Maas R., Wong G.;
"Pax-6 is required for pancreatic islet development.";
Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5A).
STRAIN=New England Deaconess Hospital, and Sprague-Dawley;
Karkour A., Wolf G.M., Walther R.;
Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Heart;
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]
PARTIAL NUCLEOTIDE SEQUENCE [MRNA], AND INVOLVEMENT IN SEY.
STRAIN=Sprague-Dawley; TISSUE=Embryo;
PubMed=7981749; DOI=10.1038/ng0493-299;
Matsuo T., Osumi-Yamashita N., Noji S., Ohuchi H., Koyama E.,
Myokai F., Matsuo N., Taniguchi S., Doi H., Iseki S., Ninomiya Y.,
Fujiwara M., Wantanabe T., Eto K.;
"A mutation in the Pax-6 gene in rat small eye is associated with
impaired migration of midbrain crest cells.";
Nat. Genet. 3:299-304(1993).
[6]
FUNCTION.
PubMed=11880342;
Takahashi M., Osumi N.;
"Pax6 regulates specification of ventral neurone subtypes in the
hindbrain by establishing progenitor domains.";
Development 129:1327-1338(2002).
[7]
INDUCTION.
PubMed=24114637; DOI=10.5114/fn.2013.37704;
Steliga A., Waskow M., Karwacki Z., Wojcik S., Lietzau G., Klejbor I.,
Kowianski P.;
"Transcription factor Pax6 is expressed by astroglia after transient
brain ischemia in the rat model.";
Folia Neuropathol. 51:203-213(2013).
-!- 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 (By similarity). Regulates
specification of the ventral neuron subtypes by establishing the
correct progenitor domains. {ECO:0000250,
ECO:0000269|PubMed:11880342}.
-!- 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}.
-!- SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00381,
ECO:0000269|PubMed:24952136}.
-!- SUBCELLULAR LOCATION: Isoform 5a: Nucleus
{ECO:0000269|PubMed:24952136}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P63016-1; Sequence=Displayed;
Name=5a; Synonyms=Pax6-5a {ECO:0000303|PubMed:24952136};
IsoId=P63016-2; Sequence=VSP_011531;
-!- TISSUE SPECIFICITY: Isoform 1 and isoform 5a are hardly expressed
in mesenchymal stem cells or in the developed neurons.
{ECO:0000269|PubMed:24952136}.
-!- DEVELOPMENTAL STAGE: Isoform 1 and isoform 5a are expressed in the
E10 embryonic headfolds and to a lesser extent in the trunk of
neurula. {ECO:0000269|PubMed:24952136}.
-!- INDUCTION: Up-regulated in response to transient cerebral ischemia
in cerebral cortex, striatum and subcortical white matter fibers
in the ischemic region starting from 24 hours after initiating the
ischemia. {ECO:0000269|PubMed:24114637}.
-!- PTM: Ubiquitinated by TRIM11, leading to ubiquitination and
proteasomal degradation. {ECO:0000250}.
-!- 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:7981749}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution-NoDerivs License
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EMBL; U69644; AAB09042.1; -; mRNA.
EMBL; AJ627631; CAF29075.1; -; mRNA.
EMBL; AY540905; AAS48919.1; -; mRNA.
EMBL; AY540906; AAS48920.1; -; mRNA.
EMBL; BC128741; AAI28742.1; -; mRNA.
EMBL; S74393; AAB32671.1; ALT_TERM; mRNA.
PIR; S36166; S36166.
RefSeq; NP_037133.1; NM_013001.2. [P63016-1]
RefSeq; XP_006234695.1; XM_006234633.3. [P63016-2]
RefSeq; XP_006234696.1; XM_006234634.3. [P63016-2]
RefSeq; XP_006234697.1; XM_006234635.3. [P63016-2]
RefSeq; XP_006234698.1; XM_006234636.3. [P63016-2]
RefSeq; XP_017446983.1; XM_017591494.1. [P63016-2]
RefSeq; XP_017446984.1; XM_017591495.1. [P63016-1]
UniGene; Rn.89724; -.
ProteinModelPortal; P63016; -.
SMR; P63016; -.
BioGrid; 247541; 1.
STRING; 10116.ENSRNOP00000006302; -.
PhosphoSitePlus; P63016; -.
PaxDb; P63016; -.
Ensembl; ENSRNOT00000005882; ENSRNOP00000005882; ENSRNOG00000004410. [P63016-1]
Ensembl; ENSRNOT00000006302; ENSRNOP00000006302; ENSRNOG00000004410. [P63016-1]
GeneID; 25509; -.
KEGG; rno:25509; -.
UCSC; RGD:3258; rat. [P63016-1]
CTD; 5080; -.
RGD; 3258; Pax6.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
GeneTree; ENSGT00680000099553; -.
HOVERGEN; HBG009115; -.
InParanoid; P63016; -.
KO; K08031; -.
PhylomeDB; P63016; -.
TreeFam; TF320146; -.
PRO; PR:P63016; -.
Proteomes; UP000002494; Chromosome 3.
Bgee; ENSRNOG00000004410; -.
ExpressionAtlas; P63016; baseline and differential.
Genevisible; P63016; RN.
GO; GO:0005737; C:cytoplasm; ISO:RGD.
GO; GO:0005622; C:intracellular; ISO:RGD.
GO; GO:0000790; C:nuclear chromatin; IDA:BHF-UCL.
GO; GO:0005634; C:nucleus; IDA:RGD.
GO; GO:0003680; F:AT DNA binding; IDA:RGD.
GO; GO:0003682; F:chromatin binding; ISO:RGD.
GO; GO:0070410; F:co-SMAD binding; ISO:RGD.
GO; GO:0003677; F:DNA binding; ISO:RGD.
GO; GO:0003690; F:double-stranded DNA binding; IDA:RGD.
GO; GO:0035035; F:histone acetyltransferase binding; ISO:RGD.
GO; GO:0071837; F:HMG box domain binding; ISO:RGD.
GO; GO:0019901; F:protein kinase binding; ISO:RGD.
GO; GO:0070412; F:R-SMAD binding; ISO:RGD.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; ISO:RGD.
GO; GO:0000979; F:RNA polymerase II core promoter sequence-specific DNA binding; ISO:RGD.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISO:RGD.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:RGD.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; ISO:RGD.
GO; GO:0008134; F:transcription factor binding; ISO:RGD.
GO; GO:0044212; F:transcription regulatory region DNA binding; ISO:RGD.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; ISO:RGD.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding; ISO:RGD.
GO; GO:0001227; F:transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding; ISO:RGD.
GO; GO:0031625; F:ubiquitin protein ligase binding; ISO:RGD.
GO; GO:0004842; F:ubiquitin-protein transferase activity; ISS:UniProtKB.
GO; GO:0009952; P:anterior/posterior pattern specification; ISO:RGD.
GO; GO:0048708; P:astrocyte differentiation; IMP:RGD.
GO; GO:0007411; P:axon guidance; ISO:RGD.
GO; GO:0007409; P:axonogenesis; ISO:RGD.
GO; GO:0001568; P:blood vessel development; ISO:RGD.
GO; GO:0007420; P:brain development; IMP:RGD.
GO; GO:0043010; P:camera-type eye development; ISO:RGD.
GO; GO:0030154; P:cell differentiation; ISO:RGD.
GO; GO:0045165; P:cell fate commitment; ISO:RGD.
GO; GO:0001709; P:cell fate determination; ISO:RGD.
GO; GO:0035690; P:cellular response to drug; IEP:RGD.
GO; GO:0044344; P:cellular response to fibroblast growth factor stimulus; IEP:RGD.
GO; GO:0071333; P:cellular response to glucose stimulus; IEP:RGD.
GO; GO:0032869; P:cellular response to insulin stimulus; IEP:RGD.
GO; GO:1990830; P:cellular response to leukemia inhibitory factor; ISO:RGD.
GO; GO:0071380; P:cellular response to prostaglandin E stimulus; IEP:RGD.
GO; GO:0007417; P:central nervous system development; IEP:RGD.
GO; GO:0021549; P:cerebellum development; IEP:RGD.
GO; GO:0021796; P:cerebral cortex regionalization; ISO:RGD.
GO; GO:0021902; P:commitment of neuronal cell to specific neuron type in forebrain; ISO:RGD.
GO; GO:0061303; P:cornea development in camera-type eye; ISO:RGD.
GO; GO:0009950; P:dorsal/ventral axis specification; ISO:RGD.
GO; GO:0009953; P:dorsal/ventral pattern formation; ISO:RGD.
GO; GO:0048596; P:embryonic camera-type eye morphogenesis; ISO:RGD.
GO; GO:0002064; P:epithelial cell development; IMP:RGD.
GO; GO:0000132; P:establishment of mitotic spindle orientation; ISO:RGD.
GO; GO:0042462; P:eye photoreceptor cell development; ISO:RGD.
GO; GO:0030900; P:forebrain development; ISO:RGD.
GO; GO:0021798; P:forebrain dorsal/ventral pattern formation; ISO:RGD.
GO; GO:0021905; P:forebrain-midbrain boundary formation; ISO:RGD.
GO; GO:0042593; P:glucose homeostasis; ISO:RGD.
GO; GO:0021986; P:habenula development; ISO:RGD.
GO; GO:0030902; P:hindbrain development; IDA:RGD.
GO; GO:1901142; P:insulin metabolic process; IMP:RGD.
GO; GO:0022027; P:interkinetic nuclear migration; IMP:RGD.
GO; GO:0061072; P:iris morphogenesis; ISO:RGD.
GO; GO:0030216; P:keratinocyte differentiation; ISO:RGD.
GO; GO:0032808; P:lacrimal gland development; ISO:RGD.
GO; GO:0098598; P:learned vocalization behavior or vocal learning; IMP:RGD.
GO; GO:0002088; P:lens development in camera-type eye; ISO:RGD.
GO; GO:0008285; P:negative regulation of cell proliferation; ISO:RGD.
GO; GO:0050680; P:negative regulation of epithelial cell proliferation; ISO:RGD.
GO; GO:2000178; P:negative regulation of neural precursor cell proliferation; ISO:RGD.
GO; GO:0050768; P:negative regulation of neurogenesis; ISS:UniProtKB.
GO; GO:0045665; P:negative regulation of neuron differentiation; ISO:RGD.
GO; GO:0001933; P:negative regulation of protein phosphorylation; ISO:RGD.
GO; GO:0001755; P:neural crest cell migration; IMP:RGD.
GO; GO:0061351; P:neural precursor cell proliferation; IMP:RGD.
GO; GO:0001764; P:neuron migration; IMP:RGD.
GO; GO:0021772; P:olfactory bulb development; IMP:RGD.
GO; GO:0061034; P:olfactory bulb mitral cell layer development; IMP:RGD.
GO; GO:0021778; P:oligodendrocyte cell fate specification; ISO:RGD.
GO; GO:0021543; P:pallium development; ISO:RGD.
GO; GO:0003322; P:pancreatic A cell development; IMP:BHF-UCL.
GO; GO:0003310; P:pancreatic A cell differentiation; IMP:RGD.
GO; GO:0021983; P:pituitary gland development; ISO:RGD.
GO; GO:0010942; P:positive regulation of cell death; IMP:RGD.
GO; GO:0042660; P:positive regulation of cell fate specification; IMP:RGD.
GO; GO:0030858; P:positive regulation of epithelial cell differentiation; ISO:RGD.
GO; GO:0010628; P:positive regulation of gene expression; IMP:BHF-UCL.
GO; GO:0070094; P:positive regulation of glucagon secretion; IMP:RGD.
GO; GO:0120008; P:positive regulation of glutamatergic neuron differentiation; IMP:RGD.
GO; GO:0002052; P:positive regulation of neuroblast proliferation; ISO:RGD.
GO; GO:2001224; P:positive regulation of neuron migration; IGI:RGD.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; ISO:RGD.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISO:RGD.
GO; GO:0033365; P:protein localization to organelle; ISO:RGD.
GO; GO:0003002; P:regionalization; ISO:RGD.
GO; GO:0009786; P:regulation of asymmetric cell division; ISO:RGD.
GO; GO:0030334; P:regulation of cell migration; ISO:RGD.
GO; GO:0010468; P:regulation of gene expression; ISO:RGD.
GO; GO:0050767; P:regulation of neurogenesis; IMP:RGD.
GO; GO:0045664; P:regulation of neuron differentiation; IDA:RGD.
GO; GO:0010975; P:regulation of neuron projection development; IGI:RGD.
GO; GO:0048505; P:regulation of timing of cell differentiation; ISO:RGD.
GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; ISO:RGD.
GO; GO:0021918; P:regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment; ISO:RGD.
GO; GO:0021912; P:regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; ISO:RGD.
GO; GO:0021913; P:regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; ISO:RGD.
GO; GO:0045471; P:response to ethanol; IEP:RGD.
GO; GO:0009611; P:response to wounding; ISO:RGD.
GO; GO:0060041; P:retina development in camera-type eye; IEP:RGD.
GO; GO:0021593; P:rhombomere morphogenesis; IMP:RGD.
GO; GO:0007435; P:salivary gland morphogenesis; ISO:RGD.
GO; GO:1904937; P:sensory neuron migration; IMP:RGD.
GO; GO:0023019; P:signal transduction involved in regulation of gene expression; ISO:RGD.
GO; GO:0007224; P:smoothened signaling pathway; ISO:RGD.
GO; GO:0021510; P:spinal cord development; IEP:RGD.
GO; GO:0021978; P:telencephalon regionalization; ISO:RGD.
GO; GO:0006366; P:transcription from RNA polymerase II promoter; IMP:BHF-UCL.
GO; GO:0003309; P:type B pancreatic cell differentiation; IMP:RGD.
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.
2: Evidence at transcript level;
Alternative splicing; Complete proteome; Developmental protein;
Differentiation; DNA-binding; Homeobox; Nucleus; Paired box;
Reference proteome; Transcription; Transcription regulation;
Ubl conjugation.
CHAIN 1 422 Paired box protein Pax-6.
/FTId=PRO_0000050187.
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 -> QTHADAKVQVLDSEN (in isoform 5a).
{ECO:0000269|PubMed:24952136,
ECO:0000303|Ref.2}.
/FTId=VSP_011531.
CONFLICT 159 159 R -> C (in Ref. 2; CAF29075).
{ECO:0000305}.
CONFLICT 183 183 Q -> G (in Ref. 5; AAB32671).
{ECO:0000305}.
SEQUENCE 422 AA; 46754 MW; B0B2E5C176A518FE CRC64;
MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ
EGQGENTNSI 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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