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Protein

Paired box protein Pax-6

Gene

Pax6

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi210 – 269HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • chromatin binding Source: MGI
  • co-SMAD binding Source: BHF-UCL
  • DNA binding Source: MGI
  • histone acetyltransferase binding Source: BHF-UCL
  • HMG box domain binding Source: UniProtKB
  • protein kinase binding Source: BHF-UCL
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  • RNA polymerase II core promoter sequence-specific DNA binding Source: BHF-UCL
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: BHF-UCL
  • R-SMAD binding Source: BHF-UCL
  • sequence-specific DNA binding Source: MGI
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB
  • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: MGI
  • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: MGI
  • transcription factor activity, sequence-specific DNA binding Source: MGI
  • transcription factor binding Source: BHF-UCL
  • transcription regulatory region DNA binding Source: MGI
  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  • anterior/posterior pattern specification Source: MGI
  • astrocyte differentiation Source: MGI
  • axon guidance Source: MGI
  • axonogenesis Source: MGI
  • blood vessel development Source: MGI
  • brain development Source: MGI
  • camera-type eye development Source: MGI
  • cell differentiation Source: MGI
  • cell fate commitment Source: MGI
  • cell fate determination Source: MGI
  • cerebral cortex regionalization Source: MGI
  • commitment of neuronal cell to specific neuron type in forebrain Source: MGI
  • cornea development in camera-type eye Source: MGI
  • dorsal/ventral axis specification Source: MGI
  • dorsal/ventral pattern formation Source: MGI
  • embryonic camera-type eye morphogenesis Source: MGI
  • establishment of mitotic spindle orientation Source: MGI
  • eye photoreceptor cell development Source: MGI
  • forebrain development Source: MGI
  • forebrain dorsal/ventral pattern formation Source: MGI
  • forebrain-midbrain boundary formation Source: MGI
  • glucose homeostasis Source: MGI
  • habenula development Source: MGI
  • iris morphogenesis Source: MGI
  • keratinocyte differentiation Source: MGI
  • lacrimal gland development Source: MGI
  • lens development in camera-type eye Source: MGI
  • negative regulation of cell proliferation Source: MGI
  • negative regulation of epithelial cell proliferation Source: MGI
  • negative regulation of neural precursor cell proliferation Source: MGI
  • negative regulation of neuron differentiation Source: MGI
  • negative regulation of protein phosphorylation Source: MGI
  • neuron migration Source: MGI
  • oligodendrocyte cell fate specification Source: MGI
  • pallium development Source: MGI
  • pancreatic A cell development Source: BHF-UCL
  • pituitary gland development Source: MGI
  • positive regulation of epithelial cell differentiation Source: MGI
  • positive regulation of gene expression Source: BHF-UCL
  • positive regulation of neuroblast proliferation Source: MGI
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • protein localization to organelle Source: MGI
  • regionalization Source: MGI
  • regulation of asymmetric cell division Source: MGI
  • regulation of cell migration Source: MGI
  • regulation of gene expression Source: MGI
  • regulation of neurogenesis Source: MGI
  • regulation of timing of cell differentiation Source: MGI
  • regulation of transcription, DNA-templated Source: MGI
  • regulation of transcription from RNA polymerase II promoter Source: MGI
  • regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment Source: MGI
  • regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: MGI
  • regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: MGI
  • response to wounding Source: Ensembl
  • retina development in camera-type eye Source: MGI
  • salivary gland morphogenesis Source: MGI
  • signal transduction involved in regulation of gene expression Source: MGI
  • smoothened signaling pathway Source: MGI
  • telencephalon regionalization Source: MGI
  • transcription from RNA polymerase II promoter Source: BHF-UCL
  • type B pancreatic cell differentiation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-MMU-210745. Regulation of gene expression in beta cells.
R-MMU-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-6
Alternative name(s):
Oculorhombin
Gene namesi
Name:Pax6
Synonyms:Pax-6, Sey
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:97490. Pax6.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI
  • intracellular Source: MGI
  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: MGI
  • nucleus Source: MGI
  • transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501861 – 422Paired box protein Pax-6Add BLAST422

Post-translational modificationi

Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation. Isoform 3 is sumoylated by SUMO1 at 'Lys-91'.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiP63015.
PaxDbiP63015.
PRIDEiP63015.

PTM databases

iPTMnetiP63015.
PhosphoSitePlusiP63015.

Expressioni

Tissue specificityi

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.1 Publication

Developmental stagei

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.2 Publications

Gene expression databases

BgeeiENSMUSG00000027168.
CleanExiMM_PAX6.
ExpressionAtlasiP63015. baseline and differential.
GenevisibleiP63015. MM.

Interactioni

Subunit structurei

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.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Smarca4O358452EBI-1395428,EBI-371515

GO - Molecular functioni

  • co-SMAD binding Source: BHF-UCL
  • histone acetyltransferase binding Source: BHF-UCL
  • HMG box domain binding Source: UniProtKB
  • protein kinase binding Source: BHF-UCL
  • R-SMAD binding Source: BHF-UCL
  • transcription factor binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi202033. 17 interactors.
DIPiDIP-38879N.
IntActiP63015. 3 interactors.
MINTiMINT-1782085.
STRINGi10090.ENSMUSP00000087870.

Structurei

3D structure databases

ProteinModelPortaliP63015.
SMRiP63015.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 130PairedPROSITE-ProRule annotationAdd BLAST127

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi131 – 209Gln/Gly-richAdd BLAST79
Compositional biasi279 – 422Pro/Ser/Thr-richAdd BLAST144

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

eggNOGiKOG0849. Eukaryota.
ENOG410XS01. LUCA.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiP63015.
KOiK08031.
OMAiQTGTWGT.
OrthoDBiEOG091G0S4E.
TreeFamiTF320146.

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P63015-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
60 70 80 90 100
GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
110 120 130 140 150
EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
160 170 180 190 200
GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
210 220 230 240 250
QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
260 270 280 290 300
EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP
310 320 330 340 350
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ
360 370 380 390 400
TSSYSCMLPT SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG
410 420
VSVPVQVPGS EPDMSQYWPR LQ
Length:422
Mass (Da):46,683
Last modified:August 31, 2004 - v1
Checksum:iC33CDD2C1B13C397
GO
Isoform 5a (identifier: P63015-2) [UniParc]FASTAAdd to basket
Also known as: Pax6-5a

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: Q → QTHADAKVQVLDNEN

Show »
Length:436
Mass (Da):48,219
Checksum:i76CCA1E7313E2C31
GO
Isoform 3 (identifier: P63015-3) [UniParc]FASTAAdd to basket
Also known as: p32

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: Missing.

Show »
Length:286
Mass (Da):31,769
Checksum:iB21F60204FC01176
GO

Sequence cautioni

The sequence AAA40109 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18G → E in BAC25729 (PubMed:16141072).Curated1
Sequence conflicti31E → Q in BAC25729 (PubMed:16141072).Curated1
Sequence conflicti287I → T in AAA40109 (PubMed:1612585).Curated1
Sequence conflicti421 – 422Missing in AAA40109 (PubMed:1612585).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti259S → P in Pax6(4Neu); defective. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0542941 – 136Missing in isoform 3. 1 PublicationAdd BLAST136
Alternative sequenceiVSP_01153047Q → QTHADAKVQVLDNEN in isoform 5a. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63963 mRNA. Translation: CAA45379.1.
X63963 mRNA. Translation: CAA45380.1.
Y19196 Genomic DNA. Translation: CAC80516.1.
Y19199 Genomic DNA. Translation: CAC80519.1.
AK028059 mRNA. Translation: BAC25729.1.
AK139054 mRNA. Translation: BAE23875.1.
BC011272 mRNA. Translation: AAH11272.1.
BC036957 mRNA. Translation: AAH36957.1.
M77842 mRNA. Translation: AAA40109.1. Different initiation.
CCDSiCCDS16499.1. [P63015-2]
CCDS57181.1. [P63015-1]
PIRiS42234.
RefSeqiNP_001231127.1. NM_001244198.2. [P63015-2]
NP_001231129.1. NM_001244200.2. [P63015-2]
NP_001231130.1. NM_001244201.2. [P63015-1]
NP_001231131.1. NM_001244202.2. [P63015-1]
NP_001297073.1. NM_001310144.1. [P63015-1]
NP_001297074.1. NM_001310145.1. [P63015-3]
NP_001297075.1. NM_001310146.1. [P63015-3]
NP_038655.1. NM_013627.6. [P63015-2]
UniGeneiMm.3608.
Mm.487124.

Genome annotation databases

EnsembliENSMUST00000090391; ENSMUSP00000087870; ENSMUSG00000027168. [P63015-2]
ENSMUST00000090397; ENSMUSP00000087878; ENSMUSG00000027168. [P63015-1]
ENSMUST00000111082; ENSMUSP00000106711; ENSMUSG00000027168. [P63015-1]
ENSMUST00000111083; ENSMUSP00000106712; ENSMUSG00000027168. [P63015-1]
ENSMUST00000111085; ENSMUSP00000106714; ENSMUSG00000027168. [P63015-2]
ENSMUST00000111086; ENSMUSP00000106715; ENSMUSG00000027168. [P63015-2]
ENSMUST00000111087; ENSMUSP00000106716; ENSMUSG00000027168. [P63015-1]
ENSMUST00000167211; ENSMUSP00000129344; ENSMUSG00000027168. [P63015-2]
GeneIDi18508.
KEGGimmu:18508.
UCSCiuc008lku.2. mouse. [P63015-2]
uc008lkv.2. mouse. [P63015-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X63963 mRNA. Translation: CAA45379.1.
X63963 mRNA. Translation: CAA45380.1.
Y19196 Genomic DNA. Translation: CAC80516.1.
Y19199 Genomic DNA. Translation: CAC80519.1.
AK028059 mRNA. Translation: BAC25729.1.
AK139054 mRNA. Translation: BAE23875.1.
BC011272 mRNA. Translation: AAH11272.1.
BC036957 mRNA. Translation: AAH36957.1.
M77842 mRNA. Translation: AAA40109.1. Different initiation.
CCDSiCCDS16499.1. [P63015-2]
CCDS57181.1. [P63015-1]
PIRiS42234.
RefSeqiNP_001231127.1. NM_001244198.2. [P63015-2]
NP_001231129.1. NM_001244200.2. [P63015-2]
NP_001231130.1. NM_001244201.2. [P63015-1]
NP_001231131.1. NM_001244202.2. [P63015-1]
NP_001297073.1. NM_001310144.1. [P63015-1]
NP_001297074.1. NM_001310145.1. [P63015-3]
NP_001297075.1. NM_001310146.1. [P63015-3]
NP_038655.1. NM_013627.6. [P63015-2]
UniGeneiMm.3608.
Mm.487124.

3D structure databases

ProteinModelPortaliP63015.
SMRiP63015.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202033. 17 interactors.
DIPiDIP-38879N.
IntActiP63015. 3 interactors.
MINTiMINT-1782085.
STRINGi10090.ENSMUSP00000087870.

PTM databases

iPTMnetiP63015.
PhosphoSitePlusiP63015.

Proteomic databases

MaxQBiP63015.
PaxDbiP63015.
PRIDEiP63015.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000090391; ENSMUSP00000087870; ENSMUSG00000027168. [P63015-2]
ENSMUST00000090397; ENSMUSP00000087878; ENSMUSG00000027168. [P63015-1]
ENSMUST00000111082; ENSMUSP00000106711; ENSMUSG00000027168. [P63015-1]
ENSMUST00000111083; ENSMUSP00000106712; ENSMUSG00000027168. [P63015-1]
ENSMUST00000111085; ENSMUSP00000106714; ENSMUSG00000027168. [P63015-2]
ENSMUST00000111086; ENSMUSP00000106715; ENSMUSG00000027168. [P63015-2]
ENSMUST00000111087; ENSMUSP00000106716; ENSMUSG00000027168. [P63015-1]
ENSMUST00000167211; ENSMUSP00000129344; ENSMUSG00000027168. [P63015-2]
GeneIDi18508.
KEGGimmu:18508.
UCSCiuc008lku.2. mouse. [P63015-2]
uc008lkv.2. mouse. [P63015-1]

Organism-specific databases

CTDi5080.
MGIiMGI:97490. Pax6.

Phylogenomic databases

eggNOGiKOG0849. Eukaryota.
ENOG410XS01. LUCA.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiP63015.
KOiK08031.
OMAiQTGTWGT.
OrthoDBiEOG091G0S4E.
TreeFamiTF320146.

Enzyme and pathway databases

ReactomeiR-MMU-210745. Regulation of gene expression in beta cells.
R-MMU-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.

Miscellaneous databases

ChiTaRSiPax6. mouse.
PROiP63015.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000027168.
CleanExiMM_PAX6.
ExpressionAtlasiP63015. baseline and differential.
GenevisibleiP63015. MM.

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPAX6_MOUSE
AccessioniPrimary (citable) accession number: P63015
Secondary accession number(s): P32117
, P70601, Q3UTV5, Q62222, Q64037, Q8CEI5, Q8VDB5, Q921Q8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: August 31, 2004
Last modified: November 30, 2016
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.