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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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi210 – 26960HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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.

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

HGNCiHGNC:8620. PAX6.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aniridia (AN)17 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171N → S in AN. 1 Publication
VAR_003808
Natural varianti18 – 181G → W in AN. 1 Publication
VAR_003809
Natural varianti19 – 191R → P in AN. 2 Publications
VAR_047860
Natural varianti22 – 265Missing in AN. 2 Publications
VAR_008693
Natural varianti26 – 261R → G in PETAN. 2 Publications
Corresponds to variant rs121907913 [ dbSNP | Ensembl ].
VAR_003810
Natural varianti29 – 291I → S in AN. 1 Publication
VAR_008694
Natural varianti29 – 291I → V in AN. 1 Publication
VAR_003811
Natural varianti33 – 331A → P in AN. 1 Publication
VAR_008695
Natural varianti37 – 393Missing in AN. 1 Publication
VAR_008696
Natural varianti42 – 421I → S in AN; mild. 1 Publication
VAR_008697
Natural varianti43 – 431S → P in AN. 1 Publication
VAR_008698
Natural varianti44 – 441R → Q in AN. 1 Publication
VAR_003812
Natural varianti46 – 461L → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047861
Natural varianti52 – 521C → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047862
Natural varianti53 – 531V → D in PETAN; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication
VAR_008700
Natural varianti53 – 531V → L in AN; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. 2 Publications
VAR_008699
Natural varianti56 – 561I → T in AN; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. 1 Publication
VAR_047863
Natural varianti63 – 631T → P in AN; mild. 1 Publication
VAR_008701
Natural varianti73 – 731G → D in AN; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. 1 Publication
VAR_047864
Natural varianti79 – 791A → E in AN; mild. 1 Publication
VAR_008703
Natural varianti87 – 871I → K in AN. 1 Publication
VAR_047865
Natural varianti87 – 871I → R in AN; loss of activity. 1 Publication
VAR_003813
Natural varianti119 – 1191S → R in AN. 2 Publications
Corresponds to variant rs121907928 [ dbSNP | Ensembl ].
VAR_008704
Natural varianti126 – 1261V → D in AN; atypical form. 1 Publication
Corresponds to variant rs121907919 [ dbSNP | Ensembl ].
VAR_008705
Natural varianti178 – 1781Q → H in AN. 1 Publication
VAR_003815
Natural varianti208 – 2081R → Q in AN; mild. 1 Publication
Corresponds to variant rs749244084 [ dbSNP | Ensembl ].
VAR_008706
Natural varianti208 – 2081R → W in AN. 1 Publication
Corresponds to variant rs757259413 [ dbSNP | Ensembl ].
VAR_003816
Natural varianti242 – 2421R → T in AN; 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 extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion. 2 Publications
Corresponds to variant rs121907927 [ dbSNP | Ensembl ].
VAR_047866
Natural varianti353 – 3531S → A in AN. 1 Publication
Corresponds to variant rs373661718 [ dbSNP | Ensembl ].
VAR_008707
Natural varianti363 – 3631S → P in PETAN. 1 Publication
VAR_017544
Natural varianti375 – 3751P → Q in AN; reduced DNA binding ability. 1 Publication
Corresponds to variant rs200015827 [ dbSNP | Ensembl ].
VAR_015066
Natural varianti395 – 3951G → R in AN. 1 Publication
VAR_067698
Natural varianti422 – 4221Q → R in AN and ocular anterior segment anomalies; loss of DNA binding ability. 2 Publications
Corresponds to variant rs780356070 [ dbSNP | Ensembl ].
VAR_008708
Peters anomaly (PETAN)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionConsists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.
See also OMIM:604229
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261R → G in PETAN. 2 Publications
Corresponds to variant rs121907913 [ dbSNP | Ensembl ].
VAR_003810
Natural varianti53 – 531V → D in PETAN; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication
VAR_008700
Natural varianti363 – 3631S → P in PETAN. 1 Publication
VAR_017544
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251R → C in FVH1; isolated. 1 Publication
VAR_017541
Natural varianti128 – 1281R → C in FVH1; isolated. 1 Publication
Corresponds to variant rs121907918 [ dbSNP | Ensembl ].
VAR_003814
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti258 – 2581F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 Publication
Corresponds to variant rs121907925 [ dbSNP | Ensembl ].
VAR_017542
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti258 – 2581F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 Publication
Corresponds to variant rs121907925 [ dbSNP | Ensembl ].
VAR_017542
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti292 – 2921S → I in BONH; significant impairment of ability to activate transcription. 1 Publication
VAR_017543
Natural varianti381 – 3811M → V in BONH. 1 Publication
VAR_017546
Natural varianti391 – 3911T → A in BONH. 1 Publication
Corresponds to variant rs121907926 [ dbSNP | Ensembl ].
VAR_017547
Aniridia, cerebellar ataxia and mental deficiency (ACAMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation.
See also OMIM:206700

Keywords - Diseasei

Disease mutation, Mental retardation, Peters anomaly

Organism-specific databases

MalaCardsiPAX6.
MIMi106210. phenotype.
120200. phenotype.
120430. phenotype.
136520. phenotype.
148190. phenotype.
165550. phenotype.
206700. phenotype.
604229. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 422422Paired box protein Pax-6PRO_0000050185Add
BLAST

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.
PhosphoSiteiP26367.

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

WithEntry#Exp.IntActNotes
Dynll1P631683EBI-747278,EBI-349121From a different organism.
HOMER3Q9NSC53EBI-747278,EBI-748420

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111114. 47 interactions.
DIPiDIP-37436N.
IntActiP26367. 19 interactions.
MINTiMINT-1465118.
STRINGi9606.ENSP00000368401.

Structurei

Secondary structure

1
422
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6 – 83Combined sources
Beta strandi14 – 163Combined sources
Helixi23 – 3412Combined sources
Helixi39 – 468Combined sources
Helixi50 – 6314Combined sources
Beta strandi77 – 793Combined sources
Helixi81 – 9313Combined sources
Helixi99 – 10810Combined sources
Turni114 – 1163Combined sources
Helixi120 – 13314Combined sources
Helixi219 – 22911Combined sources
Helixi237 – 24610Combined sources
Helixi251 – 27525Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CUENMR-A211-277[»]
6PAXX-ray2.50A4-136[»]
ProteinModelPortaliP26367.
SMRiP26367. Positions 4-136, 211-278.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP26367.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 130127PairedPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi131 – 20979Gln/Gly-richAdd
BLAST
Compositional biasi279 – 422144Pro/Ser/Thr-richAdd
BLAST

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.
InParanoidiP26367.
KOiK08031.
OMAiQTGTWGT.
PhylomeDBiP26367.
TreeFamiTF320146.

Family and domain databases

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: 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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti317 – 3171R → L in AAA59962 (PubMed:1684738).Curated
Sequence conflicti369 – 3691Y → C in CAE45868 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171N → S in AN. 1 Publication
VAR_003808
Natural varianti18 – 181G → W in AN. 1 Publication
VAR_003809
Natural varianti19 – 191R → P in AN. 2 Publications
VAR_047860
Natural varianti22 – 265Missing in AN. 2 Publications
VAR_008693
Natural varianti26 – 261R → G in PETAN. 2 Publications
Corresponds to variant rs121907913 [ dbSNP | Ensembl ].
VAR_003810
Natural varianti29 – 291I → S in AN. 1 Publication
VAR_008694
Natural varianti29 – 291I → V in AN. 1 Publication
VAR_003811
Natural varianti33 – 331A → P in AN. 1 Publication
VAR_008695
Natural varianti37 – 393Missing in AN. 1 Publication
VAR_008696
Natural varianti42 – 421I → S in AN; mild. 1 Publication
VAR_008697
Natural varianti43 – 431S → P in AN. 1 Publication
VAR_008698
Natural varianti44 – 441R → Q in AN. 1 Publication
VAR_003812
Natural varianti46 – 461L → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047861
Natural varianti52 – 521C → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047862
Natural varianti53 – 531V → D in PETAN; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication
VAR_008700
Natural varianti53 – 531V → L in AN; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. 2 Publications
VAR_008699
Natural varianti56 – 561I → T in AN; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. 1 Publication
VAR_047863
Natural varianti63 – 631T → P in AN; mild. 1 Publication
VAR_008701
Natural varianti64 – 641G → V in foveal hypoplasia; associated with presenile cataract syndrome. 1 Publication
Corresponds to variant rs121907920 [ dbSNP | Ensembl ].
VAR_008702
Natural varianti68 – 681P → S in morning glory disk anomaly; significant impairment of transcriptional activation ability. 1 Publication
Corresponds to variant rs121907923 [ dbSNP | Ensembl ].
VAR_017540
Natural varianti73 – 731G → D in AN; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. 1 Publication
VAR_047864
Natural varianti79 – 791A → E in AN; mild. 1 Publication
VAR_008703
Natural varianti87 – 871I → K in AN. 1 Publication
VAR_047865
Natural varianti87 – 871I → R in AN; loss of activity. 1 Publication
VAR_003813
Natural varianti118 – 1181P → R in a family with nystagmus associated with a variant form of aniridia. 1 Publication
VAR_015065
Natural varianti119 – 1191S → R in AN. 2 Publications
Corresponds to variant rs121907928 [ dbSNP | Ensembl ].
VAR_008704
Natural varianti125 – 1251R → C in FVH1; isolated. 1 Publication
VAR_017541
Natural varianti126 – 1261V → D in AN; atypical form. 1 Publication
Corresponds to variant rs121907919 [ dbSNP | Ensembl ].
VAR_008705
Natural varianti128 – 1281R → C in FVH1; isolated. 1 Publication
Corresponds to variant rs121907918 [ dbSNP | Ensembl ].
VAR_003814
Natural varianti178 – 1781Q → H in AN. 1 Publication
VAR_003815
Natural varianti208 – 2081R → Q in AN; mild. 1 Publication
Corresponds to variant rs749244084 [ dbSNP | Ensembl ].
VAR_008706
Natural varianti208 – 2081R → W in AN. 1 Publication
Corresponds to variant rs757259413 [ dbSNP | Ensembl ].
VAR_003816
Natural varianti242 – 2421R → T in AN; 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 extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion. 2 Publications
Corresponds to variant rs121907927 [ dbSNP | Ensembl ].
VAR_047866
Natural varianti258 – 2581F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 Publication
Corresponds to variant rs121907925 [ dbSNP | Ensembl ].
VAR_017542
Natural varianti292 – 2921S → I in BONH; significant impairment of ability to activate transcription. 1 Publication
VAR_017543
Natural varianti321 – 3211A → 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 Publication
VAR_047867
Natural varianti353 – 3531S → A in AN. 1 Publication
Corresponds to variant rs373661718 [ dbSNP | Ensembl ].
VAR_008707
Natural varianti363 – 3631S → P in PETAN. 1 Publication
VAR_017544
Natural varianti375 – 3751P → Q in AN; reduced DNA binding ability. 1 Publication
Corresponds to variant rs200015827 [ dbSNP | Ensembl ].
VAR_015066
Natural varianti378 – 3781Q → R in optic nerve aplasia. 1 Publication
VAR_017545
Natural varianti381 – 3811M → V in BONH. 1 Publication
VAR_017546
Natural varianti387 – 3871G → D.1 Publication
VAR_047868
Natural varianti391 – 3911T → A in BONH. 1 Publication
Corresponds to variant rs121907926 [ dbSNP | Ensembl ].
VAR_017547
Natural varianti395 – 3951G → R in AN. 1 Publication
VAR_067698
Natural varianti422 – 4221Q → R in AN and ocular anterior segment anomalies; loss of DNA binding ability. 2 Publications
Corresponds to variant rs780356070 [ dbSNP | Ensembl ].
VAR_008708

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei47 – 471Q → QTHADAKVQVLDNQN in isoform 5a. 1 PublicationVSP_002366

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]
ENST00000379111; ENSP00000368406; ENSG00000007372. [P26367-1]
ENST00000379115; ENSP00000368410; ENSG00000007372. [P26367-2]
ENST00000379123; ENSP00000368418; ENSG00000007372. [P26367-1]
ENST00000379129; ENSP00000368424; ENSG00000007372. [P26367-2]
ENST00000379132; ENSP00000368427; ENSG00000007372. [P26367-1]
ENST00000419022; ENSP00000404100; ENSG00000007372. [P26367-2]
ENST00000606377; ENSP00000480026; ENSG00000007372. [P26367-2]
GeneIDi5080.
KEGGihsa:5080.
UCSCiuc001mtg.6. human. [P26367-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Human PAX6 allelic variant database web site
Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CUENMR-A211-277[»]
6PAXX-ray2.50A4-136[»]
ProteinModelPortaliP26367.
SMRiP26367. Positions 4-136, 211-278.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111114. 47 interactions.
DIPiDIP-37436N.
IntActiP26367. 19 interactions.
MINTiMINT-1465118.
STRINGi9606.ENSP00000368401.

PTM databases

iPTMnetiP26367.
PhosphoSiteiP26367.

Polymorphism and mutation databases

BioMutaiPAX6.
DMDMi6174889.

Proteomic databases

PaxDbiP26367.
PeptideAtlasiP26367.
PRIDEiP26367.

Protocols and materials databases

DNASUi5080.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241001; ENSP00000241001; ENSG00000007372. [P26367-1]
ENST00000379107; ENSP00000368401; ENSG00000007372. [P26367-2]
ENST00000379109; ENSP00000368403; ENSG00000007372. [P26367-1]
ENST00000379111; ENSP00000368406; ENSG00000007372. [P26367-1]
ENST00000379115; ENSP00000368410; ENSG00000007372. [P26367-2]
ENST00000379123; ENSP00000368418; ENSG00000007372. [P26367-1]
ENST00000379129; ENSP00000368424; ENSG00000007372. [P26367-2]
ENST00000379132; ENSP00000368427; ENSG00000007372. [P26367-1]
ENST00000419022; ENSP00000404100; ENSG00000007372. [P26367-2]
ENST00000606377; ENSP00000480026; ENSG00000007372. [P26367-2]
GeneIDi5080.
KEGGihsa:5080.
UCSCiuc001mtg.6. human. [P26367-1]

Organism-specific databases

CTDi5080.
GeneCardsiPAX6.
GeneReviewsiPAX6.
HGNCiHGNC:8620. PAX6.
HPAiCAB034143.
HPA030775.
MalaCardsiPAX6.
MIMi106210. phenotype.
120200. phenotype.
120430. phenotype.
136520. phenotype.
148190. phenotype.
165550. phenotype.
206700. phenotype.
604229. phenotype.
607108. gene.
neXtProtiNX_P26367.
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.
GenAtlasiSearch...

Phylogenomic databases

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

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.

Miscellaneous databases

ChiTaRSiPAX6. human.
EvolutionaryTraceiP26367.
GeneWikiiPAX6.
GenomeRNAii5080.
PROiP26367.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

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_HUMAN
AccessioniPrimary (citable) accession number: P26367
Secondary accession number(s): Q6N006, Q99413
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: July 15, 1999
Last modified: September 7, 2016
This is version 196 of the entry and version 2 of the sequence. [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

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.