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Protein

Paired box protein Pax-6

Gene

PAX6

Organism
Homo sapiens (Human)
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 (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.By similarity

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-210745. Regulation of gene expression in beta cells.
R-HSA-381771. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
R-HSA-400511. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
R-HSA-5617472. Activation of anterior HOX genes in hindbrain development during early embryogenesis.
SignaLinkiP26367.
SIGNORiP26367.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-6
Alternative name(s):
Aniridia type II protein
Oculorhombin
Gene namesi
Name:PAX6
Synonyms:AN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000007372.20.
HGNCiHGNC:8620. PAX6.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aniridia 1 (AN1)19 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:106210
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00380817N → S in AN1. 1 Publication1
Natural variantiVAR_00380918G → W in AN1. 1 Publication1
Natural variantiVAR_04786019R → P in AN1. 2 Publications1
Natural variantiVAR_00869322 – 26Missing in AN1. 2 Publications5
Natural variantiVAR_00869429I → S in AN1. 1 Publication1
Natural variantiVAR_00381129I → V in AN1. 1 Publication1
Natural variantiVAR_00869533A → P in AN1. 1 Publication1
Natural variantiVAR_00869637 – 39Missing in AN1. 1 Publication3
Natural variantiVAR_00869742I → S in AN1; mild. 1 Publication1
Natural variantiVAR_00869843S → P in AN1. 1 Publication1
Natural variantiVAR_00381244R → Q in AN1. 1 Publication1
Natural variantiVAR_04786146L → R in AN1; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication1
Natural variantiVAR_04786252C → R in AN1; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication1
Natural variantiVAR_00869953V → L in AN1; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. 2 Publications1
Natural variantiVAR_04786356I → T in AN1; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. 1 Publication1
Natural variantiVAR_00870163T → P in AN1; mild. 1 Publication1
Natural variantiVAR_04786473G → D in AN1; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. 1 Publication1
Natural variantiVAR_00870379A → E in AN1; mild. 1 Publication1
Natural variantiVAR_04786587I → K in AN1. 1 Publication1
Natural variantiVAR_00381387I → R in AN1; loss of activity. 1 Publication1
Natural variantiVAR_008704119S → R in AN1. 2 PublicationsCorresponds to variant dbSNP:rs121907928Ensembl.1
Natural variantiVAR_008705126V → D in AN1; atypical form. 1 PublicationCorresponds to variant dbSNP:rs121907919Ensembl.1
Natural variantiVAR_003815178Q → H in AN1. 1 Publication1
Natural variantiVAR_008706208R → Q in AN1; mild. 1 PublicationCorresponds to variant dbSNP:rs749244084Ensembl.1
Natural variantiVAR_003816208R → W in AN1. 1 PublicationCorresponds to variant dbSNP:rs757259413Ensembl.1
Natural variantiVAR_047866242R → 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. 2 PublicationsCorresponds to variant dbSNP:rs121907927Ensembl.1
Natural variantiVAR_008707353S → A in AN1. 1 PublicationCorresponds to variant dbSNP:rs373661718Ensembl.1
Natural variantiVAR_015066375P → Q in AN1; reduced DNA binding ability. 1 PublicationCorresponds to variant dbSNP:rs200015827Ensembl.1
Natural variantiVAR_067698395G → R in AN1. 1 Publication1
Natural variantiVAR_008708422Q → R in AN1 and ocular anterior segment anomalies; loss of DNA binding ability. 2 PublicationsCorresponds to variant dbSNP:rs780356070Ensembl.1
Anterior segment dysgenesis 5 (ASGD5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604229
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00381026R → G in ASGD5. 2 PublicationsCorresponds to variant dbSNP:rs121907913Ensembl.1
Natural variantiVAR_00870053V → D in ASGD5; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication1
Natural variantiVAR_017544363S → P in ASGD5. 1 Publication1
Foveal hypoplasia 1 (FVH1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:136520
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017541125R → C in FVH1; isolated. 1 Publication1
Natural variantiVAR_003814128R → C in FVH1; isolated. 1 PublicationCorresponds to variant dbSNP:rs121907918Ensembl.1
Keratitis hereditary (KERH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.
See also OMIM:148190
Coloboma, ocular, autosomal dominant (COAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:120200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017542258F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 PublicationCorresponds to variant dbSNP:rs121907925Ensembl.1
Coloboma of optic nerve (COLON)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:120430
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017542258F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 PublicationCorresponds to variant dbSNP:rs121907925Ensembl.1
Bilateral optic nerve hypoplasia (BONH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:165550
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017543292S → I in BONH; significant impairment of ability to activate transcription. 1 Publication1
Natural variantiVAR_017546381M → V in BONH. 1 Publication1
Natural variantiVAR_017547391T → A in BONH. 1 PublicationCorresponds to variant dbSNP:rs121907926Ensembl.1
Aniridia 2 (AN2)1 Publication
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 PAX6.1 Publication
Disease descriptionA 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.
See also OMIM:617141

Keywords - Diseasei

Disease mutation, Peters anomaly

Organism-specific databases

DisGeNETi5080.
GeneReviewsiPAX6.
MalaCardsiPAX6.
MIMi106210. phenotype.
120200. phenotype.
120430. phenotype.
136520. phenotype.
148190. phenotype.
165550. phenotype.
604229. phenotype.
617141. phenotype.
OpenTargetsiENSG00000007372.
Orphaneti1065. Aniridia - cerebellar ataxia - intellectual disability.
2334. Autosomal dominant keratitis.
2253. Foveal hypoplasia - presenile cataract.
250923. Isolated aniridia.
137902. Isolated optic nerve hypoplasia.
35737. Morning glory syndrome.
194. Ocular coloboma.
708. Peters anomaly.
893. WAGR syndrome.
PharmGKBiPA32960.

Polymorphism and mutation databases

BioMutaiPAX6.
DMDMi6174889.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501851 – 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

PaxDbiP26367.
PeptideAtlasiP26367.
PRIDEiP26367.

PTM databases

iPTMnetiP26367.
PhosphoSitePlusiP26367.

Expressioni

Tissue specificityi

Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

Developmental stagei

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).1 Publication

Gene expression databases

BgeeiENSG00000007372.
CleanExiHS_PAX6.
ExpressionAtlasiP26367. baseline and differential.
GenevisibleiP26367. HS.

Organism-specific databases

HPAiCAB034143.
HPA030775.

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

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111114. 48 interactors.
CORUMiP26367.
DIPiDIP-37436N.
IntActiP26367. 112 interactors.
MINTiMINT-1465118.
STRINGi9606.ENSP00000368401.

Structurei

Secondary structure

1422
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi6 – 8Combined sources3
Beta strandi14 – 16Combined sources3
Helixi23 – 34Combined sources12
Helixi39 – 46Combined sources8
Helixi50 – 63Combined sources14
Beta strandi77 – 79Combined sources3
Helixi81 – 93Combined sources13
Helixi99 – 108Combined sources10
Turni114 – 116Combined sources3
Helixi120 – 133Combined sources14
Helixi219 – 229Combined sources11
Helixi237 – 246Combined sources10
Helixi251 – 275Combined sources25

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CUENMR-A211-277[»]
6PAXX-ray2.50A4-136[»]
ProteinModelPortaliP26367.
SMRiP26367.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP26367.

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

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

eggNOGiKOG0849. Eukaryota.
ENOG410XS01. LUCA.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiP26367.
KOiK08031.
OMAiQTGTWGT.
PhylomeDBiP26367.
TreeFamiTF320146.

Family and domain databases

CDDicd00086. homeodomain. 1 hit.
cd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
PRINTSiPR00027. PAIREDBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P26367-1) [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:July 15, 1999 - v2
Checksum:iC33CDD2C1B13C397
GO
Isoform 5a (identifier: P26367-2) [UniParc]FASTAAdd to basket
Also known as: Pax6-5a

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

Show »
Length:436
Mass (Da):48,218
Checksum:i74926827347A20B5
GO
Isoform 3 (identifier: P26367-3)
Also known as: Pax6-5A,6*
Sequence is not available
Length:
Mass (Da):

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti317R → L in AAA59962 (PubMed:1684738).Curated1
Sequence conflicti369Y → C in CAE45868 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00380817N → S in AN1. 1 Publication1
Natural variantiVAR_00380918G → W in AN1. 1 Publication1
Natural variantiVAR_04786019R → P in AN1. 2 Publications1
Natural variantiVAR_00869322 – 26Missing in AN1. 2 Publications5
Natural variantiVAR_00381026R → G in ASGD5. 2 PublicationsCorresponds to variant dbSNP:rs121907913Ensembl.1
Natural variantiVAR_00869429I → S in AN1. 1 Publication1
Natural variantiVAR_00381129I → V in AN1. 1 Publication1
Natural variantiVAR_00869533A → P in AN1. 1 Publication1
Natural variantiVAR_00869637 – 39Missing in AN1. 1 Publication3
Natural variantiVAR_00869742I → S in AN1; mild. 1 Publication1
Natural variantiVAR_00869843S → P in AN1. 1 Publication1
Natural variantiVAR_00381244R → Q in AN1. 1 Publication1
Natural variantiVAR_04786146L → R in AN1; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication1
Natural variantiVAR_04786252C → R in AN1; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication1
Natural variantiVAR_00870053V → D in ASGD5; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication1
Natural variantiVAR_00869953V → L in AN1; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. 2 Publications1
Natural variantiVAR_04786356I → T in AN1; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. 1 Publication1
Natural variantiVAR_00870163T → P in AN1; mild. 1 Publication1
Natural variantiVAR_00870264G → V in foveal hypoplasia; associated with presenile cataract syndrome. 1 PublicationCorresponds to variant dbSNP:rs121907920Ensembl.1
Natural variantiVAR_01754068P → S in morning glory disk anomaly; significant impairment of transcriptional activation ability. 1 PublicationCorresponds to variant dbSNP:rs121907923Ensembl.1
Natural variantiVAR_04786473G → D in AN1; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. 1 Publication1
Natural variantiVAR_00870379A → E in AN1; mild. 1 Publication1
Natural variantiVAR_04786587I → K in AN1. 1 Publication1
Natural variantiVAR_00381387I → R in AN1; loss of activity. 1 Publication1
Natural variantiVAR_015065118P → R in a family with nystagmus associated with a variant form of aniridia. 1 Publication1
Natural variantiVAR_008704119S → R in AN1. 2 PublicationsCorresponds to variant dbSNP:rs121907928Ensembl.1
Natural variantiVAR_017541125R → C in FVH1; isolated. 1 Publication1
Natural variantiVAR_008705126V → D in AN1; atypical form. 1 PublicationCorresponds to variant dbSNP:rs121907919Ensembl.1
Natural variantiVAR_003814128R → C in FVH1; isolated. 1 PublicationCorresponds to variant dbSNP:rs121907918Ensembl.1
Natural variantiVAR_003815178Q → H in AN1. 1 Publication1
Natural variantiVAR_008706208R → Q in AN1; mild. 1 PublicationCorresponds to variant dbSNP:rs749244084Ensembl.1
Natural variantiVAR_003816208R → W in AN1. 1 PublicationCorresponds to variant dbSNP:rs757259413Ensembl.1
Natural variantiVAR_047866242R → 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. 2 PublicationsCorresponds to variant dbSNP:rs121907927Ensembl.1
Natural variantiVAR_017542258F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 PublicationCorresponds to variant dbSNP:rs121907925Ensembl.1
Natural variantiVAR_017543292S → I in BONH; significant impairment of ability to activate transcription. 1 Publication1
Natural variantiVAR_047867321A → 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. 1 Publication1
Natural variantiVAR_008707353S → A in AN1. 1 PublicationCorresponds to variant dbSNP:rs373661718Ensembl.1
Natural variantiVAR_017544363S → P in ASGD5. 1 Publication1
Natural variantiVAR_015066375P → Q in AN1; reduced DNA binding ability. 1 PublicationCorresponds to variant dbSNP:rs200015827Ensembl.1
Natural variantiVAR_017545378Q → R in optic nerve aplasia. 1 Publication1
Natural variantiVAR_017546381M → V in BONH. 1 Publication1
Natural variantiVAR_047868387G → D1 Publication1
Natural variantiVAR_017547391T → A in BONH. 1 PublicationCorresponds to variant dbSNP:rs121907926Ensembl.1
Natural variantiVAR_067698395G → R in AN1. 1 Publication1
Natural variantiVAR_008708422Q → R in AN1 and ocular anterior segment anomalies; loss of DNA binding ability. 2 PublicationsCorresponds to variant dbSNP:rs780356070Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00236647Q → QTHADAKVQVLDNQN in isoform 5a. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77844 mRNA. Translation: AAA59962.1.
M93650 mRNA. Translation: AAA36416.1.
AY047583 mRNA. Translation: AAK95849.1.
BX640762 mRNA. Translation: CAE45868.1.
Z95332, Z83307 Genomic DNA. Translation: CAG38363.1.
Z83307, Z95332 Genomic DNA. Translation: CAG38087.1.
BC011953 mRNA. Translation: AAH11953.1.
CCDSiCCDS31451.1. [P26367-1]
CCDS31452.1. [P26367-2]
PIRiA56674.
RefSeqiNP_000271.1. NM_000280.4. [P26367-1]
NP_001121084.1. NM_001127612.1. [P26367-1]
NP_001245393.1. NM_001258464.1. [P26367-1]
NP_001245394.1. NM_001258465.1. [P26367-1]
NP_001297088.1. NM_001310159.1.
NP_001297090.1. NM_001310161.1.
NP_001595.2. NM_001604.5. [P26367-2]
UniGeneiHs.270303.
Hs.611376.

Genome annotation databases

EnsembliENST00000241001; ENSP00000241001; ENSG00000007372. [P26367-1]
ENST00000379107; ENSP00000368401; ENSG00000007372. [P26367-2]
ENST00000379109; ENSP00000368403; ENSG00000007372. [P26367-1]
ENST00000379129; ENSP00000368424; ENSG00000007372. [P26367-2]
ENST00000379132; ENSP00000368427; ENSG00000007372. [P26367-1]
ENST00000419022; ENSP00000404100; ENSG00000007372. [P26367-2]
ENST00000606377; ENSP00000480026; ENSG00000007372. [P26367-2]
ENST00000638903; ENSP00000492296; ENSG00000007372. [P26367-2]
ENST00000638914; ENSP00000492315; ENSG00000007372. [P26367-1]
ENST00000639409; ENSP00000492476; ENSG00000007372. [P26367-2]
ENST00000639916; ENSP00000490963; ENSG00000007372. [P26367-1]
ENST00000640287; ENSP00000492822; ENSG00000007372. [P26367-1]
ENST00000640368; ENSP00000492024; ENSG00000007372. [P26367-2]
ENST00000640610; ENSP00000491295; ENSG00000007372. [P26367-1]
ENST00000640975; ENSP00000491872; ENSG00000007372. [P26367-2]
GeneIDi5080.
KEGGihsa:5080.
UCSCiuc001mtg.6. human. [P26367-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPAX6_HUMAN
AccessioniPrimary (citable) accession number: P26367
Secondary accession number(s): Q6N006, Q99413
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: July 15, 1999
Last modified: September 27, 2017
This is version 208 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families