PAX6 paired box 6 [ Homo sapiens (human) ]

Gene ID: 5080, updated on 23-Jul-2024

Summary

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Official Symbol: PAX6provided by HGNC
Official Full Name: paired box 6provided by HGNC
Primary source: HGNC:HGNC:8620
See related: Ensembl:ENSG00000007372 MIM:607108; AllianceGenome:HGNC:8620
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AN; AN1; AN2; FVH1; MGDA; WAGR; ASGD5; D11S812E
Summary: This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
Expression: Broad expression in brain (RPKM 3.5), stomach (RPKM 2.6) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

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See PAX6 in Genome Data Viewer

Location:: 11p13

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (31789026..31817961, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (31924847..31953767, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (31810574..31839509, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility.
Title: PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility.
A positive feedback inhibition of isocitrate dehydrogenase 3beta on paired-box gene 6 promotes Alzheimer-like pathology.
Title: A positive feedback inhibition of isocitrate dehydrogenase 3β on paired-box gene 6 promotes Alzheimer-like pathology.
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Title: Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Reduction of lens size in PAX6-related aniridia.
Title: Reduction of lens size in PAX6-related aniridia.
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Title: Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Mechanism of PAX6 overexpression in inhibiting the growth of hepatocellular carcinoma cells and promoting the killing ability of the natural killer cells.
Title: Mechanism of PAX6 overexpression in inhibiting the growth of hepatocellular carcinoma cells and promoting the killing ability of the natural killer cells.
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Title: A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.
Title: Functional Characteristics of Diverse PAX6 Mutations Associated with Isolated Foveal Hypoplasia.
Novel variants in the PAX6 gene related to isolated aniridia.
Title: Novel variants in the PAX6 gene related to isolated aniridia.
Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.
Title: Association of Polymorphisms in ZFHX1B and PAX6 With Anisometropia in Chinese Children: The Hong Kong Children Eye Genetics Study.

Submit: New GeneRIF Correction See all GeneRIFs (317)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
11p partial monosomy syndrome MedGen: C0206115 OMIM: 194072 GeneReviews: PAX6-Related Aniridia	not available
Aniridia 1 MedGen: C0344542 OMIM: 106210 GeneReviews: PAX6-Related Aniridia	not available
Anophthalmia-microphthalmia syndrome MedGen: C5680330 GeneReviews: Not available	not available
Autosomal dominant keratitis MedGen: C1835698 OMIM: 148190 GeneReviews: Not available	not available
Coloboma of optic nerve MedGen: C0155299 OMIM: 120430 GeneReviews: Not available	not available
Coloboma, ocular, autosomal dominant MedGen: CN263371 OMIM: 120200 GeneReviews: Not available	not available
Foveal hypoplasia 1 MedGen: C3805604 OMIM: 136520 GeneReviews: Not available	not available
Irido-corneo-trabecular dysgenesis MedGen: C0344559 OMIM: 604229 GeneReviews: Not available	not available
Isolated optic nerve hypoplasia MedGen: C1833797 OMIM: 165550 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2015-11-05) ClinGen Genome Curation Page Triplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2015-11-05) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Meta-analysis identifies common variants associated with body mass index in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119890 (e-PCR)
- UniSTS:133634

D12Bir2 (e-PCR), detects polymorphism
- UniSTS:141835

GDB:344354 (e-PCR)
- UniSTS:156688

RH79881 (e-PCR)
- UniSTS:83989

GDB:344736 (e-PCR)
- UniSTS:156696

GDB:215731 (e-PCR)
- UniSTS:156202

GDB:197570 (e-PCR)
- UniSTS:155949

PAX6 (e-PCR)
- UniSTS:26433

RH46063 (e-PCR)
- UniSTS:29562

Pax6 (e-PCR), detects polymorphism
- UniSTS:466070

Pax6 (e-PCR), detects polymorphism
- UniSTS:534423

GDB:316221 (e-PCR)
- UniSTS:156577

Pax6 (e-PCR), detects polymorphism
- UniSTS:502695

RH78222 (e-PCR)
- UniSTS:88560

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables HMG box domain binding	IEA Inferred from Electronic Annotation more info
enables R-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II core promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables co-SMAD binding	IEA Inferred from Electronic Annotation more info
enables histone acetyltransferase binding	ISS Inferred from Sequence or Structural Similarity more info
enables minor groove of adenine-thymine-rich DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coregulator binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in astrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fibroblast growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to prostaglandin E stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex regionalization	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in commitment of neuronal cell to specific neuron type in forebrain	IEA Inferred from Electronic Annotation more info
involved_in cornea development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dorsal/ventral axis specification	IEA Inferred from Electronic Annotation more info
involved_in embryonic camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in establishment of mitotic spindle orientation	IEA Inferred from Electronic Annotation more info
involved_in eye development	TAS Traceable Author Statement more info	PubMed
involved_in eye photoreceptor cell development	IEA Inferred from Electronic Annotation more info
involved_in forebrain dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
involved_in forebrain-midbrain boundary formation	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in habenula development	IEA Inferred from Electronic Annotation more info
involved_in insulin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in interkinetic nuclear migration	IEA Inferred from Electronic Annotation more info
involved_in iris morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in lacrimal gland development	IEA Inferred from Electronic Annotation more info
involved_in learned vocalization behavior or vocal learning	IEA Inferred from Electronic Annotation more info
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural crest cell migration	IEA Inferred from Electronic Annotation more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in neuron fate commitment	NAS Non-traceable Author Statement more info	PubMed
involved_in olfactory bulb mitral cell layer development	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in pancreatic A cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pituitary gland development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of core promoter binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glutamatergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to organelle	IEA Inferred from Electronic Annotation more info
involved_in regulation of asymmetric cell division	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in regulation of timing of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEP Inferred from Expression Pattern more info	PubMed
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in rhombomere morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in sensory neuron migration	IEA Inferred from Electronic Annotation more info
involved_in signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in type B pancreatic cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in ventral spinal cord development	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: paired box protein Pax-6

Names: Aniridia 1; Aniridia 2; alternative protein PAX6; aniridia type II protein; oculorhombin; paired box 6 PAX6-12a isoform; paired box 6 PAX6A-ASdel6 isoform; paired box 6 PAX6A-ASdel6-AS7 isoform; paired box 6 PAX6A-del6 isoform; paired box 6 PAX6B-ASdel6 isoform; paired box 6 PAX6D isoform; paired box homeotic gene-6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008679.1 RefSeqGene

Range

5001..38170

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_720

mRNA and Protein(s)

NM_000280.6 → NP_000271.1 paired box protein Pax-6 isoform a

See identical proteins and their annotated locations for NP_000271.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).

Source sequence(s)

M93650, Z83307, Z95332

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000495109.1, ENST00000643871.1

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001127612.3 → NP_001121084.1 paired box protein Pax-6 isoform a

See identical proteins and their annotated locations for NP_001121084.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. It initiates from the A (P0) promoter. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).

Source sequence(s)

AK314470, BM557761, BP394398, DA183294

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000241001.8, ENST00000241001.13

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001258462.3 → NP_001245391.1 paired box protein Pax-6 isoform b

See identical proteins and their annotated locations for NP_001245391.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. It initiates from the A (P0) promoter. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).

Source sequence(s)

AB593092, DA183294, Z83307

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Related

ENSP00000492315.2, ENST00000638914.3

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001258463.2 → NP_001245392.1 paired box protein Pax-6 isoform b

See identical proteins and their annotated locations for NP_001245392.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).

Source sequence(s)

AB593093, Z83307, Z95332

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Related

ENSP00000492476.1, ENST00000639409.1

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001258464.2 → NP_001245393.1 paired box protein Pax-6 isoform a

See identical proteins and their annotated locations for NP_001245393.1

Status: REVIEWED

Description

Transcript Variant:This variant (6) uses an alternate splice site in the 5' UTR compared to variant 1. It initiates from the P1 promoter. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).

Source sequence(s)

BC011953, DA078958, Z83307

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000491295.1, ENST00000640610.1

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001258465.3 → NP_001245394.1 paired box protein Pax-6 isoform a

See identical proteins and their annotated locations for NP_001245394.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. It initiates from the B (P1) promoter. Variants 1, 3, 6, 7, and 12-16 all encode the same isoform (a).

Source sequence(s)

AY707088, DA079367, M77844, Z83307

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000490963.1, ENST00000639916.1

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001310158.2 → NP_001297087.1 paired box protein Pax-6 isoform b

See identical proteins and their annotated locations for NP_001297087.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).

Source sequence(s)

AB593094, Z83307

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Related

ENSP00000491872.1, ENST00000640975.1

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001310159.1 → NP_001297088.1 paired box protein Pax-6 isoform c

See identical proteins and their annotated locations for NP_001297088.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) has a shorter 5' UTR and lacks multiple 3' coding exons compared to variant 1. Its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (c, also known as S) has a distinct, shorter C-terminus than isoform a.

Source sequence(s)

BM666662, GQ141695, M77844

Consensus CDS

CCDS86190.1

UniProtKB/TrEMBL

A0A1W2PPN2, D1KF47

Related

ENSP00000491679.1, ENST00000639034.2

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 266

Homeobox; Homeobox domain
NM_001310160.2 → NP_001297089.1 paired box protein Pax-6 isoform d

See identical proteins and their annotated locations for NP_001297089.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) initiates from the P alpha promoter and contains multiple differences in the 5' region, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and lacks the paired domain, compared to isoform a. Variants 10, 11, and 20-30 all encode the same isoform (d).

Source sequence(s)

AK094249, CA397106, DA056636, DA089215, Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000490971.1, ENST00000638629.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001310161.3 → NP_001297090.1 paired box protein Pax-6 isoform d

See identical proteins and their annotated locations for NP_001297090.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) initiates from the P alpha promoter and contains multiple differences in the 5' region, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and lacks the paired domain, compared to isoform a. Variants 10, 11, and 20-30 all encode the same isoform (d).

Source sequence(s)

CA397106, DA089215, DA571138, M93650, Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000492205.1, ENST00000481563.6

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368887.2 → NP_001355816.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (12), as well as variants 1, 3, 6, 7, and 13-16, encodes isoform a.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000368406.3, ENST00000379111.7

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001368888.2 → NP_001355817.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (13), as well as variants 1, 3, 6, 7, 12, and 14-16, encodes isoform a.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000431585.2, ENST00000524853.6

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001368889.2 → NP_001355818.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (14), as well as variants 1, 3, 6, 7, 12, 13, 15, and 16, encodes isoform a.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000368403.2, ENST00000379109.7

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001368890.2 → NP_001355819.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (15), as well as variants 1, 3, 6, 7, 12-14, and 16, encodes isoform a.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000491862.1, ENST00000639950.1

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001368891.2 → NP_001355820.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (16), as well as variants 1, 3, 6, 7, and 12-15, encodes isoform a.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367, Q6N006, Q99413

UniProtKB/TrEMBL

B3KQG1, Q66SS1

Related

ENSP00000492802.1, ENST00000640460.1

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 267

Homeobox; Homeobox domain
NM_001368892.2 → NP_001355821.1 paired box protein Pax-6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (17), as well as variants 2, 4, 5, 8, 18, and 19, encodes isoform b.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Related

ENSP00000480026.1, ENST00000606377.7

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001368893.2 → NP_001355822.1 paired box protein Pax-6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (18), as well as variants 2, 4, 5, 8, 17, and 19, encodes isoform b.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001368894.2 → NP_001355823.1 paired box protein Pax-6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (19), as well as variants 2, 4, 5, 8, 17, and 18, encodes isoform b.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Related

ENSP00000492024.1, ENST00000640368.2

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001368899.2 → NP_001355828.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (20), as well as variants 10, 11, and 21-30, encodes isoform d.

Source sequence(s)

Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000492081.1, ENST00000638878.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368900.2 → NP_001355829.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (21), as well as variants 10, 11, 20, and 22-30, encodes isoform d.

Source sequence(s)

Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000492437.1, ENST00000638802.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368901.2 → NP_001355830.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (22), as well as variants 10, 11, 20, 21, and 23-30, encodes isoform d.

Source sequence(s)

Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000492658.1, ENST00000639386.2

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368902.2 → NP_001355831.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (23), as well as variants 10, 11, 20-22, and 24-30, encodes isoform d.

Source sequence(s)

Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000491904.1, ENST00000639109.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368903.2 → NP_001355832.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (24), as well as variants 10, 11, 20-23, and 25-30, encodes isoform d.

Source sequence(s)

Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000491517.1, ENST00000638762.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368904.2 → NP_001355833.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (25), as well as variants 10, 11, 20-24, and 26-30, encodes isoform d.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000491365.1, ENST00000638250.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368905.2 → NP_001355834.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (26), as well as variants 10, 11, 20-25, and 27-30, encodes isoform d.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368906.2 → NP_001355835.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (27), as well as variants 10, 11, 20-26, and 28-30, encodes isoform d.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000491214.1, ENST00000640766.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368907.2 → NP_001355836.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (28), as well as variants 10, 11, 20-27, 29, and 30, encodes isoform d.

Source sequence(s)

Z83307

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Related

ENSP00000491065.1, ENST00000640872.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368908.2 → NP_001355837.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (29), as well as variants 10, 11, 20-28, and 30, encodes isoform d.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368909.2 → NP_001355838.1 paired box protein Pax-6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (30), as well as variants 10, 11, and 20-29, encodes isoform d.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS86189.1

UniProtKB/TrEMBL

A0A1W2PPH0, A0A1W2PRA8

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368910.2 → NP_001355839.1 paired box protein Pax-6 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (31) encodes the longest isoform (e).

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

B3KQG1

Conserved Domains (2) summary

smart00351
Location:85 → 209

PAX; Paired Box domain

pfam00046
Location:295 → 348

Homeobox; Homeobox domain
NM_001368911.2 → NP_001355840.1 paired box protein Pax-6 isoform f

Status: REVIEWED

Source sequence(s)

Z83307, Z95332

Conserved Domains (2) summary

smart00351
Location:5 → 143

PAX; Paired Box domain

pfam00046
Location:229 → 282

Homeobox; Homeobox domain
NM_001368912.2 → NP_001355841.1 paired box protein Pax-6 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (33), as well as variants 34 and 35, encodes isoform g.

Source sequence(s)

Z83307, Z95332

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001368913.2 → NP_001355842.1 paired box protein Pax-6 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (34), as well as variants 33 and 35, encodes isoform g.

Source sequence(s)

Z83307, Z95332

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001368914.2 → NP_001355843.1 paired box protein Pax-6 isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (35), as well as variants 33 and 34, encodes isoform g.

Source sequence(s)

Z83307, Z95332

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain
NM_001368915.2 → NP_001355844.1 paired box protein Pax-6 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (36), as well as variants 37 and 38, encodes isoform h.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS91456.1

UniProtKB/TrEMBL

A0A1W2PQG7

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 266

Homeobox; Homeobox domain
NM_001368916.2 → NP_001355845.1 paired box protein Pax-6 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (37), as well as variants 36 and 38, encodes isoform h.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS91456.1

UniProtKB/TrEMBL

A0A1W2PQG7

Related

ENSP00000491948.1, ENST00000638963.1

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 266

Homeobox; Homeobox domain
NM_001368917.2 → NP_001355846.1 paired box protein Pax-6 isoform h

Status: REVIEWED

Description

Transcript Variant: This variant (38), as well as variants 36 and 37, encodes isoform h.

Source sequence(s)

Z83307, Z95332

Consensus CDS

CCDS91456.1

UniProtKB/TrEMBL

A0A1W2PQG7

Conserved Domains (2) summary

smart00351
Location:4 → 128

PAX; Paired Box domain

pfam00046
Location:214 → 266

Homeobox; Homeobox domain
NM_001368918.2 → NP_001355847.1 paired box protein Pax-6 isoform i

Status: REVIEWED

Description

Transcript Variant: This variant (39), as well as variant 40, encodes isoform i.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

B3KQG1

Conserved Domains (2) summary

smart00351
Location:4 → 167

PAX; Paired Box domain

pfam00046
Location:253 → 305

Homeobox; Homeobox domain
NM_001368919.2 → NP_001355848.1 paired box protein Pax-6 isoform i

Status: REVIEWED

Description

Transcript Variant: This variant (40), as well as variant 39, encodes isoform i.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

B3KQG1

Conserved Domains (2) summary

smart00351
Location:4 → 167

PAX; Paired Box domain

pfam00046
Location:253 → 305

Homeobox; Homeobox domain
NM_001368920.2 → NP_001355849.1 paired box protein Pax-6 isoform j

Status: REVIEWED

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

B3KQG1

Conserved Domains (2) summary

smart00351
Location:4 → 153

PAX; Paired Box domain

pfam00046
Location:239 → 291

Homeobox; Homeobox domain
NM_001368921.2 → NP_001355850.1 paired box protein Pax-6 isoform k

Status: REVIEWED

Source sequence(s)

Z83307, Z95332

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368922.2 → NP_001355851.1 paired box protein Pax-6 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (43), as well as variants 44-48, encodes isoform l.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Related

ENSP00000404356.2, ENST00000438681.6

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368923.2 → NP_001355852.1 paired box protein Pax-6 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (44), as well as variants 43 and 45-48, encodes isoform l.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Related

ENSP00000388132.3, ENST00000423822.7

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368924.2 → NP_001355853.1 paired box protein Pax-6 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (45), as well as variants 43, 44, and 46-48, encodes isoform l.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Related

ENSP00000491229.1, ENST00000639943.1

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368925.2 → NP_001355854.1 paired box protein Pax-6 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (46), as well as variants 43-45, 47, and 48, encodes isoform l.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Related

ENSP00000492587.1, ENST00000640613.1

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368926.2 → NP_001355855.1 paired box protein Pax-6 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (47), as well as variants 43-46 and 48, encodes isoform l.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368927.2 → NP_001355856.1 paired box protein Pax-6 isoform l

Status: REVIEWED

Description

Transcript Variant: This variant (48), as well as variants 43-47, encodes isoform l.

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Related

ENSP00000368410.5, ENST00000379115.9

Conserved Domains (2) summary

pfam00046
Location:161 → 214

Homeobox; Homeobox domain

cl21459
Location:4 → 70

HTH; Helix-turn-helix domains
NM_001368928.2 → NP_001355857.1 paired box protein Pax-6 isoform m

Status: REVIEWED

Source sequence(s)

Z83307, Z95332

UniProtKB/TrEMBL

A0A1W2PRG3

Conserved Domains (2) summary

pfam00046
Location:147 → 200

Homeobox; Homeobox domain

cl21459
Location:4 → 56

HTH; Helix-turn-helix domains
NM_001368929.2 → NP_001355858.1 paired box protein Pax-6 isoform n

Status: REVIEWED

Source sequence(s)

Z83307

UniProtKB/TrEMBL

A0A1W2PRH6

Related

ENSP00000492316.1, ENST00000638685.1

Conserved Domains (1) summary

pfam00046
Location:78 → 131

Homeobox; Homeobox domain
NM_001368930.2 → NP_001355859.1 paired box protein Pax-6 isoform o

Status: REVIEWED

Source sequence(s)

Z83307

Consensus CDS

CCDS91455.1

UniProtKB/TrEMBL

A0A1W2PSB5

Related

ENSP00000492769.1, ENST00000638965.1

Conserved Domains (1) summary

pfam00046
Location:13 → 66

Homeobox; Homeobox domain
NM_001604.6 → NP_001595.2 paired box protein Pax-6 isoform b

See identical proteins and their annotated locations for NP_001595.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, and includes an alternate in-frame exon in the 5' coding region, compared to variant 1. It initiates from the B (P1) promoter. The encoded isoform (b, also known as 5a) is longer than isoform a. Variants 2, 4, 5, 8, and 17-19 all encode the same isoform (b).

Source sequence(s)

BX640762, CV569250, DA078958, DA141443, Z83307

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

B3KQG1, F1T0F8

Related

ENSP00000404100.1, ENST00000419022.6

Conserved Domains (2) summary

smart00351
Location:4 → 142

PAX; Paired Box domain

pfam00046
Location:228 → 281

Homeobox; Homeobox domain