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Entry version 225 (08 May 2019)
Sequence version 2 (15 Jul 1999)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi210 – 269HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P26367

SIGNOR Signaling Network Open Resource

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SIGNORi
P26367

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Paired box protein Pax-6
Alternative name(s):
Aniridia type II protein
Oculorhombin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PAX6
Synonyms:AN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:8620 PAX6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607108 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P26367

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs121907928EnsemblClinVar.1
Natural variantiVAR_008705126V → D in AN1; atypical form. 1 PublicationCorresponds to variant dbSNP:rs121907919EnsemblClinVar.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:rs757259413EnsemblClinVar.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:rs121907927EnsemblClinVar.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:rs121907913EnsemblClinVar.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:rs121907918EnsemblClinVar.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:rs121907925EnsemblClinVar.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:rs121907925EnsemblClinVar.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:rs121907926EnsemblClinVar.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

DisGeNET

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DisGeNETi
5080

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PAX6

MalaCards human disease database

More...
MalaCardsi
PAX6
MIMi106210 phenotype
120200 phenotype
120430 phenotype
136520 phenotype
148190 phenotype
165550 phenotype
604229 phenotype
617141 phenotype

Open Targets

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OpenTargetsi
ENSG00000007372

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
2334 Autosomal dominant keratitis
98942 Coloboma of choroid and retina
98943 Coloboma of eye lens
98946 Coloboma of eyelid
98944 Coloboma of iris
98945 Coloboma of macula
98947 Coloboma of optic disc
2253 Foveal hypoplasia-presenile cataract syndrome
250923 Isolated aniridia
137902 Isolated optic nerve hypoplasia/aplasia
35737 Morning glory disc anomaly
708 Peters anomaly
893 WAGR syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA32960

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PAX6

Domain mapping of disease mutations (DMDM)

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DMDMi
6174889

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000501851 – 422Paired box protein Pax-6Add BLAST422

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P26367

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P26367

PeptideAtlas

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PeptideAtlasi
P26367

PRoteomics IDEntifications database

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PRIDEi
P26367

ProteomicsDB human proteome resource

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ProteomicsDBi
54323
54324 [P26367-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P26367

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P26367

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000007372 Expressed in 149 organ(s), highest expression level in palpebral conjunctiva

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P26367 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P26367 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB034143
HPA030775

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111114, 49 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P26367

Database of interacting proteins

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DIPi
DIP-37436N

Protein interaction database and analysis system

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IntActi
P26367, 116 interactors

Molecular INTeraction database

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MINTi
P26367

STRING: functional protein association networks

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STRINGi
9606.ENSP00000404100

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1422
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CUENMR-A211-277[»]
6PAXX-ray2.50A4-136[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P26367

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P26367

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini4 – 130PairedPROSITE-ProRule annotationAdd BLAST127

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi131 – 209Gln/Gly-richAdd BLAST79
Compositional biasi279 – 422Pro/Ser/Thr-richAdd BLAST144

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0849 Eukaryota
ENOG410XS01 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155391

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P26367

KEGG Orthology (KO)

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KOi
K08031

Identification of Orthologs from Complete Genome Data

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OMAi
PMGTSGA

Database of Orthologous Groups

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OrthoDBi
276568at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P26367

TreeFam database of animal gene trees

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TreeFami
TF320146

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit
cd00131 PAX, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001523 Paired_dom
IPR036388 WH-like_DNA-bd_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit
PF00292 PAX, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00027 PAIREDBOX

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00389 HOX, 1 hit
SM00351 PAX, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46689 SSF46689, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00034 PAIRED_1, 1 hit
PS51057 PAIRED_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 33 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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):

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 33 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1B1I9B1B1I9_HUMAN
Paired box protein Pax-6
PAX6
367Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKM0E9PKM0_HUMAN
Paired box protein Pax-6
PAX6
417Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQG7A0A1W2PQG7_HUMAN
Paired box protein Pax-6
PAX6
473Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRH6A0A1W2PRH6_HUMAN
Paired box protein Pax-6
PAX6
302Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1B1I8B1B1I8_HUMAN
Paired box protein Pax-6
PAX6
320Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D1KF47D1KF47_HUMAN
Paired box protein 6 isoform c
PAX6
401Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRS6A0A1W2PRS6_HUMAN
Paired box protein Pax-6
PAX6
341Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQM7A0A1W2PQM7_HUMAN
Paired box protein Pax-6
PAX6
386Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1X7SBT0A0A1X7SBT0_HUMAN
Paired box protein Pax-6
PAX6
335Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPM5A0A1W2PPM5_HUMAN
Paired box protein Pax-6
PAX6
314Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs121907913EnsemblClinVar.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:rs121907920EnsemblClinVar.1
Natural variantiVAR_01754068P → S in morning glory disk anomaly; significant impairment of transcriptional activation ability. 1 PublicationCorresponds to variant dbSNP:rs121907923EnsemblClinVar.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:rs121907928EnsemblClinVar.1
Natural variantiVAR_017541125R → C in FVH1; isolated. 1 Publication1
Natural variantiVAR_008705126V → D in AN1; atypical form. 1 PublicationCorresponds to variant dbSNP:rs121907919EnsemblClinVar.1
Natural variantiVAR_003814128R → C in FVH1; isolated. 1 PublicationCorresponds to variant dbSNP:rs121907918EnsemblClinVar.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:rs757259413EnsemblClinVar.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:rs121907927EnsemblClinVar.1
Natural variantiVAR_017542258F → S in COAD and COLON; significant impairment of transcriptional activation ability. 1 PublicationCorresponds to variant dbSNP:rs121907925EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1392343463Ensembl.1
Natural variantiVAR_017547391T → A in BONH. 1 PublicationCorresponds to variant dbSNP:rs121907926EnsemblClinVar.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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00236647Q → QTHADAKVQVLDNQN in isoform 5a. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M77844 mRNA Translation: AAA59962.1
M93650 mRNA Translation: AAA36416.1
AY047583 mRNA Translation: AAK95849.1
BX640762 mRNA Translation: CAE45868.1
Z83307 Genomic DNA No translation available.
Z95332 Genomic DNA No translation available.
BC011953 mRNA Translation: AAH11953.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31451.1 [P26367-1]
CCDS31452.1 [P26367-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A56674

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000241001; 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]
ENST00000643871; ENSP00000495109; ENSG00000007372 [P26367-1]
ENST00000645710; ENSP00000494722; ENSG00000007372 [P26367-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5080

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5080

UCSC genome browser

More...
UCSCi
uc001mtg.6 human [P26367-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
Z83307 Genomic DNA No translation available.
Z95332 Genomic DNA No translation available.
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]

3D structure databases

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

Protein-protein interaction databases

BioGridi111114, 49 interactors
CORUMiP26367
DIPiDIP-37436N
IntActiP26367, 116 interactors
MINTiP26367
STRINGi9606.ENSP00000404100

PTM databases

iPTMnetiP26367
PhosphoSitePlusiP26367

Polymorphism and mutation databases

BioMutaiPAX6
DMDMi6174889

Proteomic databases

jPOSTiP26367
PaxDbiP26367
PeptideAtlasiP26367
PRIDEiP26367
ProteomicsDBi54323
54324 [P26367-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5080
Structural Biology KnowledgebaseSearch...

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]
ENST00000643871; ENSP00000495109; ENSG00000007372 [P26367-1]
ENST00000645710; ENSP00000494722; ENSG00000007372 [P26367-2]
GeneIDi5080
KEGGihsa:5080
UCSCiuc001mtg.6 human [P26367-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5080
DisGeNETi5080

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PAX6
GeneReviewsiPAX6
HGNCiHGNC:8620 PAX6
HPAiCAB034143
HPA030775
MalaCardsiPAX6
MIMi106210 phenotype
120200 phenotype
120430 phenotype
136520 phenotype
148190 phenotype
165550 phenotype
604229 phenotype
607108 gene
617141 phenotype
neXtProtiNX_P26367
OpenTargetsiENSG00000007372
Orphaneti1065 Aniridia-cerebellar ataxia-intellectual disability syndrome
2334 Autosomal dominant keratitis
98942 Coloboma of choroid and retina
98943 Coloboma of eye lens
98946 Coloboma of eyelid
98944 Coloboma of iris
98945 Coloboma of macula
98947 Coloboma of optic disc
2253 Foveal hypoplasia-presenile cataract syndrome
250923 Isolated aniridia
137902 Isolated optic nerve hypoplasia/aplasia
35737 Morning glory disc anomaly
708 Peters anomaly
893 WAGR syndrome
PharmGKBiPA32960

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00940000155391
InParanoidiP26367
KOiK08031
OMAiPMGTSGA
OrthoDBi276568at2759
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
SIGNORiP26367

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PAX6 human
EvolutionaryTraceiP26367

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PAX6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5080

Protein Ontology

More...
PROi
PR:P26367

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000007372 Expressed in 149 organ(s), highest expression level in palpebral conjunctiva
ExpressionAtlasiP26367 baseline and differential
GenevisibleiP26367 HS

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_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001523 Paired_dom
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00046 Homeodomain, 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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAX6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P26367
Secondary accession number(s): Q6N006, Q99413
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: July 15, 1999
Last modified: May 8, 2019
This is version 225 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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