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Protein

Paired box protein Pax-6

Gene

Pax6

Organism
Rattus norvegicus (Rat)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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 (By similarity). Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains.By similarity1 Publication

Regions

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

GO - Molecular functioni

  • AT DNA binding Source: RGD
  • double-stranded DNA binding Source: RGD
  • 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
  • sequence-specific DNA binding Source: RGD
  • transcription factor activity, sequence-specific DNA binding Source: RGD
  • ubiquitin-protein transferase activity Source: UniProtKB

GO - Biological processi

  • astrocyte differentiation Source: RGD
  • brain development Source: RGD
  • cellular response to drug Source: RGD
  • cellular response to fibroblast growth factor stimulus Source: RGD
  • cellular response to glucose stimulus Source: RGD
  • cellular response to insulin stimulus Source: RGD
  • cellular response to prostaglandin E stimulus Source: RGD
  • central nervous system development Source: RGD
  • cerebellum development Source: RGD
  • epithelial cell development Source: RGD
  • hindbrain development Source: RGD
  • insulin metabolic process Source: RGD
  • interkinetic nuclear migration Source: RGD
  • negative regulation of neurogenesis Source: UniProtKB
  • neural crest cell migration Source: RGD
  • neural precursor cell proliferation Source: RGD
  • neuron migration Source: RGD
  • olfactory bulb development Source: RGD
  • pancreatic A cell development Source: BHF-UCL
  • pancreatic A cell differentiation Source: RGD
  • positive regulation of cell fate specification Source: RGD
  • positive regulation of gene expression Source: BHF-UCL
  • positive regulation of glucagon secretion Source: RGD
  • positive regulation of neuron migration Source: RGD
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • regulation of neurogenesis Source: RGD
  • regulation of neuron differentiation Source: RGD
  • regulation of neuron projection development Source: RGD
  • response to ethanol Source: RGD
  • retina development in camera-type eye Source: RGD
  • rhombomere morphogenesis Source: RGD
  • spinal cord development Source: RGD
  • transcription from RNA polymerase II promoter Source: BHF-UCL
  • type B pancreatic cell differentiation Source: RGD
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-6
Alternative name(s):
Oculorhombin
Gene namesi
Name:Pax6
Synonyms:Pax-6, Sey
OrganismiRattus norvegicus (Rat)
Taxonomic identifieri10116 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeRattus
Proteomesi
  • UP000002494 Componenti: Chromosome 3

Organism-specific databases

RGDi3258. Pax6.

Subcellular locationi

Isoform 1 :
  • Nucleus PROSITE-ProRule annotation1 Publication
Isoform 5a :
  • Nucleus 1 Publication

GO - Cellular componenti

  • nuclear chromatin Source: BHF-UCL
  • nucleus Source: RGD
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501871 – 422Paired box protein Pax-6Add BLAST422

Post-translational modificationi

Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiP63016.

Expressioni

Tissue specificityi

Isoform 1 and isoform 5a are hardly expressed in mesenchymal stem cells or in the developed neurons.1 Publication

Developmental stagei

Isoform 1 and isoform 5a are expressed in the E10 embryonic headfolds and to a lesser extent in the trunk of neurula.1 Publication

Inductioni

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.1 Publication

Gene expression databases

BgeeiENSRNOG00000004410.
ExpressionAtlasiP63016. baseline and differential.
GenevisibleiP63016. RN.

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.By similarity

Protein-protein interaction databases

BioGridi247541. 1 interactor.
STRINGi10116.ENSRNOP00000006302.

Structurei

3D structure databases

ProteinModelPortaliP63016.
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.
InParanoidiP63016.
KOiK08031.
PhylomeDBiP63016.
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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P63016-1) [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 EGQGENTNSI 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):46,754
Last modified:August 31, 2004 - v1
Checksum:iB0B2E5C176A518FE
GO
Isoform 5a (identifier: P63016-2) [UniParc]FASTAAdd to basket
Also known as: Pax6-5a1 Publication

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

Show »
Length:436
Mass (Da):48,263
Checksum:iA6719A36AC8FDE53
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti159R → C in CAF29075 (Ref. 2) Curated1
Sequence conflicti183Q → G in AAB32671 (PubMed:7981749).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01153147Q → QTHADAKVQVLDSEN in isoform 5a. 1 Publication1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U69644 mRNA. Translation: AAB09042.1.
AJ627631 mRNA. Translation: CAF29075.1.
AY540905 mRNA. Translation: AAS48919.1.
AY540906 mRNA. Translation: AAS48920.1.
BC128741 mRNA. Translation: AAI28742.1.
S74393 mRNA. Translation: AAB32671.1. Different termination.
PIRiS36166.
RefSeqiNP_037133.1. NM_013001.2. [P63016-1]
XP_006234695.1. XM_006234633.3. [P63016-2]
XP_006234696.1. XM_006234634.3. [P63016-2]
XP_006234697.1. XM_006234635.3. [P63016-2]
XP_006234698.1. XM_006234636.3. [P63016-2]
XP_017446983.1. XM_017591494.1. [P63016-2]
XP_017446984.1. XM_017591495.1. [P63016-1]
UniGeneiRn.89724.

Genome annotation databases

EnsembliENSRNOT00000005882; ENSRNOP00000005882; ENSRNOG00000004410. [P63016-1]
ENSRNOT00000006302; ENSRNOP00000006302; ENSRNOG00000004410. [P63016-1]
GeneIDi25509.
KEGGirno:25509.
UCSCiRGD:3258. rat. [P63016-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U69644 mRNA. Translation: AAB09042.1.
AJ627631 mRNA. Translation: CAF29075.1.
AY540905 mRNA. Translation: AAS48919.1.
AY540906 mRNA. Translation: AAS48920.1.
BC128741 mRNA. Translation: AAI28742.1.
S74393 mRNA. Translation: AAB32671.1. Different termination.
PIRiS36166.
RefSeqiNP_037133.1. NM_013001.2. [P63016-1]
XP_006234695.1. XM_006234633.3. [P63016-2]
XP_006234696.1. XM_006234634.3. [P63016-2]
XP_006234697.1. XM_006234635.3. [P63016-2]
XP_006234698.1. XM_006234636.3. [P63016-2]
XP_017446983.1. XM_017591494.1. [P63016-2]
XP_017446984.1. XM_017591495.1. [P63016-1]
UniGeneiRn.89724.

3D structure databases

ProteinModelPortaliP63016.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi247541. 1 interactor.
STRINGi10116.ENSRNOP00000006302.

Proteomic databases

PaxDbiP63016.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSRNOT00000005882; ENSRNOP00000005882; ENSRNOG00000004410. [P63016-1]
ENSRNOT00000006302; ENSRNOP00000006302; ENSRNOG00000004410. [P63016-1]
GeneIDi25509.
KEGGirno:25509.
UCSCiRGD:3258. rat. [P63016-1]

Organism-specific databases

CTDi5080.
RGDi3258. Pax6.

Phylogenomic databases

eggNOGiKOG0849. Eukaryota.
ENOG410XS01. LUCA.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiP63016.
KOiK08031.
PhylomeDBiP63016.
TreeFamiTF320146.

Miscellaneous databases

PROiP63016.

Gene expression databases

BgeeiENSRNOG00000004410.
ExpressionAtlasiP63016. baseline and differential.
GenevisibleiP63016. RN.

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_RAT
AccessioniPrimary (citable) accession number: P63016
Secondary accession number(s): A1A5N7
, P32117, P70601, Q62222, Q64037, Q6QHS5, Q701Q8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: August 31, 2004
Last modified: November 30, 2016
This is version 115 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, Reference proteome

Documents

  1. 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.