PAX6 paired box 6 [Homo sapiens] - Gene

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Summary

Official Symbol: PAX6provided by HGNC
Official Full Name: paired box 6provided by HGNC
Primary source: HGNC:8620
See related: Ensembl:ENSG00000007372; HPRD:06167; MIM:607108; Vega:OTTHUMG00000041447
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; AN2; MGDA; WAGR; D11S812E; MGC17209
Summary: This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

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Genomic context

Location :: 11p13

Sequence :: Chromosome: 11; NC_000011.9 (31806340..31839509, complement)

See PAX6 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The identification of two new PAX6 gene mutations in Chinese aniridia patients, is reported.
Title: PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.
A small subset of aniridia cases is caused by rearrangements of PAX6 neighboring regions, and the so-called "position effect" is considered to be the underlying pathogenic mechanism.
Title: PAX6 3' deletion in a family with aniridia.
PARP-1 regulates PAX6 transcription during human embryonic stem cell neural differentiation.
Title: Fibroblast growth factor regulates human neuroectoderm specification through ERK1/2-PARP-1 pathway.
We examined the exon sequence of the PAX6 gene in a Chinese family and an unrelated individual with aniridia. The predicted outcome of both mutations is premature termination
Title: Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia.
we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.
Title: Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
Mutational screening and genotyping could not conclusively clarify a role for PAX6 in familial peripheral keratopathy phenotype, suggesting that it is a distinct clinical and genetic disease entity, not a variant of aniridia.
Title: Familial peripheral keratopathy without PAX6 mutation.
The results suggest that Pax6 represses AR activity by displacing and/or inhibiting recruitment of coactivators to AR target promoters.
Title: Pax6 represses androgen receptor-mediated transactivation by inhibiting recruitment of the coactivator SPBP.
Genome-wide identification of novel PAX6 targets, using Hidden Markov Modelling with published targets. Many predictions were empirically validated using zebrafish ChIP, and gene expression changes in knock-downs and in some mouse mutants.
Title: Discovery and assessment of conserved Pax6 target genes and enhancers.
Our findings further confirmed that different kind of mutations might cause different ocular phenotype, and clearly clinical phenotype classification might increase the mutation detection rate of the PAX6gene.
Title: Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.
A novel missense mutation in PAX6 (amino acid substitution of proline to glutamine at position 118 (p.P118Q) was identified in all affected individuals but not in asymptomatic members and 110 normal controls.
Title: Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.

Submit: New GeneRIF Correction See all (123)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Aniridia is characterized by complete or partial iris hypoplasia with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities, often of later onset, include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 have up to 50% risk of developing Wilms tumor.

Diagnosis Testing

Aniridia is diagnosed by clinical examination. Sequence analysis of the PAX6 coding region and deletion testing to identify PAX6 exonic or whole-gene deletions are used to identify the disease-causing mutation in those with isolated aniridia. High-resolution cytogenetic testing at the 600-650-band level to detect deletions involving 11p13 and FISH testing or deletion testing to detect deletions of PAX6 and WT1 are used to identify the underlying disease-causing mechanism in those with the diagnosis of WAGR syndrome. All testing described here is clinically available.

Genetic Counseling

Isolated aniridia is inherited in an autosomal dominant manner. Most individuals with isolated aniridia have an affected parent; however, some may have isolated aniridia as the result of a de novo gene mutation. Each offspring of an individual with isolated aniridia has a 50% chance of inheriting the PAX6 mutation and developing aniridia. WAGR syndrome caused by a contiguous gene deletion usually occurs de novo; WAGR syndrome caused by a cytogenetically visible deletion may be de novo or may result from transmission by a parent with a balanced chromosome rearrangement. Prenatal testing is available for pregnancies at increased risk for isolated aniridia if the disease-causing mutation of an affected family member has been identified and for pregnancies at increased risk for WAGR syndrome if a contiguous gene deletion or a cytogenetically visible deletion has been confirmed in the proband.

Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
NP_000271.1	NP_002135.2	HOXB1	BIND	PubMed	Pax6 interacts with HoxB1. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human HoxB1.
NP_000271.1	AAF73471.1	IPO13	BIND	PubMed	Kap13 interacts with Pax6.
NP_000271.1	NP_002576.1	PBX1	BIND	PubMed	Pax6 interacts with Pbx1. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human Pbx1.
P26367	Q99626	CDX2	HPRD	PubMed
P26367	O60610	DIAPH1	HPRD	PubMed
P26367	Q12959	DLG1	HPRD	PubMed
P26367	P63167	DYNLL1	HPRD	PubMed
P26367	Q05925	EN1	HPRD	PubMed
P26367	Q09472	EP300	HPRD	PubMed
P26367	Q9H2X6	HIPK2	HPRD	PubMed
P26367	Q9NSC5	HOMER3	HPRD	PubMed
P26367	P14653	HOXB1	HPRD	PubMed
P26367	Q8NI35	INADL	HPRD	PubMed
P26367	O94829	IPO13	HPRD	PubMed
P26367	O15525	MAFG	HPRD	PubMed
P26367	O75030	MITF	HPRD	PubMed
P26367	P40424	PBX1	HPRD	PubMed
P26367	Q9Y2V3	RAX	HPRD	PubMed
P26367	P49796	RGS3	HPRD	PubMed
P26367	Q9BYB0	SHANK3	HPRD	PubMed
P26367	O95343	SIX3	HPRD	PubMed
P26367	P51532	SMARCA4	HPRD	PubMed
P26367	P56693	SOX10	HPRD	PubMed
P26367	P41225	SOX3	HPRD	PubMed
P26367	P20226	TBP	HPRD	PubMed
P26367	Q96F44	TRIM11	HPRD	PubMed
P26367	P58304	VSX2	HPRD	PubMed
BioGRID:111114	BioGRID:107475	CDX2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111114	BioGRID:108334	EN1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111114	BioGRID:109451	HOXB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:115025	IPO13	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:111114	BioGRID:114758	LHX2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:110432	MITF	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:111114	PAX6	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111114	BioGRID:111333	PKNOX1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:111613	PROX1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:119034	RAX	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement; Reconstituted Complex
BioGRID:111114	BioGRID:111860	RB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:112387	SIX3	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111114	BioGRID:112540	SOX2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111114	BioGRID:113188	SUMO1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111114	BioGRID:112735	TAF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111114	BioGRID:112771	TBP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111114	BioGRID:113014	TP73	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111114	BioGRID:130813	VSX2	BioGRID	PubMed	Reconstituted Complex

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General gene information

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

Genotypes

See PAX6 SNP Geneview Report
See PAX6 SNP Genotype Report
See PAX6 SNP Variation Viewer Report

Homology

Homologs of the PAX6 gene: The PAX6 gene is conserved in , cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
Map Viewer (Mouse, Rat)

Pathways from BioSystems

CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
CDC42 signaling events, organism-specific biosystem
CDC42 signaling events
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Incretin Synthesis, Secretion, and Inactivation, organism-specific biosystem (from REACTOME)
Incretin Synthesis, Secretion, and Inactivation, organism-specific biosystemIncretins are peptide hormones produced by the gut that enhance the ability of glucose to stimulate insulin secretion from beta cells in the pancreas. Two incretins have been identified: Glucagon-lik...
Integration of energy metabolism, organism-specific biosystem (from REACTOME)
Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Maturity onset diabetes of the young, conserved biosystem (from KEGG)
Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1), organism-specific biosystem (from REACTOME)
Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1), organism-specific biosystemIn L cells of the intestine the transcription factors TCF-4 (TCF7L2) and Beta-catenin form a heterodimer and bind the G2 enhancer of the Proglucagon gene GCG,activating its transcription to yield Pro...
Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP), organism-specific biosystem (from REACTOME)
Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP), organism-specific biosystemIn K cells of the intestine the transcription factors PAX6 and PDX-1 activate transcription of the gene encoding Glucose-dependent Insulinotropic Polypeptide (GIP, first called Gastric Inhibitory Pep...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	TAS Traceable Author Statement more info	PubMed
R-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info
histone acetyltransferase binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	ISS Inferred from Sequence or Structural Similarity more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding RNA polymerase II transcription factor activity	IDA Inferred from Direct Assay more info
sequence-specific DNA binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
ubiquitin-protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
cell differentiation	IEA Inferred from Electronic Annotation more info
central nervous system development	TAS Traceable Author Statement more info	PubMed
cornea development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
eye development	TAS Traceable Author Statement more info	PubMed
glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
iris morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
neuron fate commitment	NAS Non-traceable Author Statement more info	PubMed
organ morphogenesis	TAS Traceable Author Statement more info	PubMed
pancreatic A cell development	IMP Inferred from Mutant Phenotype more info
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info
positive regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info
protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
response to wounding	IEP Inferred from Expression Pattern more info	PubMed
transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info
transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info
visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nuclear chromatin	IDA Inferred from Direct Assay more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

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General protein information

Preferred Names: paired box protein Pax-6

Names: paired box protein Pax-6; oculorhombin; aniridia type II protein; paired box homeotic gene-6

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NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

NM_000280.4 → NP_000271.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 3, 6 and 7 encode the same isoform (a).

Source sequence(s)

BP394576, DA078958, M93650, Z83307

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367

UniProtKB/TrEMBL

Q66SS1

Related

ENSP00000368418, OTTHUMP00000038835, ENST00000379123, OTTHUMT00000099288

Conserved Domains (3) summary

cd00086
Location:213 – 269
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:5 – 131
Blast Score: 590

PAX; Paired Box domain

smart00351
Location:4 – 128
Blast Score: 632

PAX; Paired Box domain
NM_001127612.1 → NP_001121084.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, 6 and 7 encode the same isoform (a).

Source sequence(s)

AK314470, BE221553, BM557761, BM725029, BP394398, BP394576, BU072567, BX089704, BX114225, CA397536, DA183294, Z83307

Consensus CDS

CCDS31451.1

UniProtKB/Swiss-Prot

P26367

UniProtKB/TrEMBL

Q66SS1

Related

ENSP00000368427, OTTHUMP00000038838, ENST00000379132, OTTHUMT00000099293

Conserved Domains (3) summary

cd00086
Location:213 – 269
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:5 – 131
Blast Score: 590

PAX; Paired Box domain

smart00351
Location:4 – 128
Blast Score: 632

PAX; Paired Box domain
NM_001258462.1 → NP_001245391.1 paired box protein Pax-6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. Variants 2, 4 and 5 encode the same isoform (b), which is shorter than isoform a.

Source sequence(s)

AB593092, BP394576, DA183294, Z83307
NM_001258463.1 → NP_001245392.1 paired box protein Pax-6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. Variants 2, 4 and 5 encode the same isoform (b), which is shorter than isoform a.

Source sequence(s)

AB593093, BP394576, Z83307
NM_001258464.1 → NP_001245393.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 3, 6 and 7 encode the same isoform (a).

Source sequence(s)

BC011953, BP394576, DA078958, Z83307

Conserved Domains (3) summary

cd00086
Location:213 – 269
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:5 – 131
Blast Score: 590

PAX; Paired Box domain

smart00351
Location:4 – 128
Blast Score: 632

PAX; Paired Box domain
NM_001258465.1 → NP_001245394.1 paired box protein Pax-6 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 3, 6 and 7 encode the same isoform (a).

Source sequence(s)

AY707088, BP394576, DA079367, M77844, Z83307

Conserved Domains (3) summary

cd00086
Location:213 – 269
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:5 – 131
Blast Score: 590

PAX; Paired Box domain

smart00351
Location:4 – 128
Blast Score: 632

PAX; Paired Box domain
NM_001604.5 → NP_001595.2 paired box protein Pax-6 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. Variants 2, 4 and 5 encode the same isoform (b), which is shorter than isoform a.

Source sequence(s)

BP394576, BX640762, CV569250, DA078958, DA141443, Z83307

Consensus CDS

CCDS31452.1

UniProtKB/TrEMBL

F1T0F8

UniProtKB/Swiss-Prot

P26367

Related

ENSP00000368410, OTTHUMP00000038833, ENST00000379115, OTTHUMT00000099286

Conserved Domains (3) summary

cd00086
Location:227 – 283
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cd00131
Location:5 – 145
Blast Score: 567

PAX; Paired Box domain

smart00351
Location:4 – 142
Blast Score: 610

PAX; Paired Box domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

31806340..31839509, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

31501758..31535259, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF548390.1	AAN86817.1
genomic	AY307164.1	AAP74576.1
genomic	AY337852.1	AAR10412.1
genomic	CH471064.2	EAW68233.1
		EAW68234.1
		EAW68235.1
		EAW68236.1
genomic	DQ251039.1	ABB55263.1
genomic	S70304.1	AAB30690.1
genomic	S70305.1	AAB30691.2
genomic	S70307.1	AAB30692.2
genomic	Z83307.1	CAG38083.1
		CAG38084.1
		CAG38085.1
		CAG38086.1
		CAG38087.1
genomic	Z95332.1	CAG38359.1
		CAG38360.1
		CAG38361.1
		CAG38362.1
		CAG38363.1
mRNA	AB209177.1	BAD92414.1
mRNA	AB593092.1	BAJ84032.1
mRNA	AB593093.1	BAJ84033.1
mRNA	AB593094.1	BAJ84034.1
mRNA	AK074881.1	BAG52023.1
mRNA	AK094172.1	None
mRNA	AK094249.1	None
mRNA	AK314470.1	None
mRNA	AY047583.1	AAK95849.1
mRNA	AY707088.1	AAU12168.1
mRNA	BC011953.1	AAH11953.1
mRNA	BE221553.1	None
mRNA	BI789171.1	None
mRNA	BI816814.1	None
mRNA	BM313099.1	None
mRNA	BM557761.1	None
mRNA	BM725029.1	None
mRNA	BP394398.1	None
mRNA	BP394576.1	None
mRNA	BU072567.1	None
mRNA	BX089704.1	None
mRNA	BX114225.1	None
mRNA	BX440968.2	None
mRNA	BX640762.1	CAE45868.1
mRNA	CA397536.1	None
mRNA	CD673930.1	None
mRNA	CV569250.1	None
mRNA	DA078958.1	None
mRNA	DA079367.1	None
mRNA	DA141443.1	None
mRNA	DA183294.1	None
mRNA	F07809.1	None
mRNA	GQ141695.1	ACZ28705.1
mRNA	M77844.1	AAA59962.1
		AAA59963.1
mRNA	M93650.1	AAA36416.1
other-genetic	DQ891436.2	ABM82362.1
other-genetic	DQ894612.2	ABM85538.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P26367.2	GenPept	UniProtKB/Swiss-Prot:P26367
Q2XU31	GenPept	UniProtKB/TrEMBL:Q2XU31
Q56H36	GenPept	UniProtKB/TrEMBL:Q56H36
Q59GD2	GenPept	UniProtKB/TrEMBL:Q59GD2
Q6VMP0	GenPept	UniProtKB/TrEMBL:Q6VMP0
Q7Z5Y4	GenPept	UniProtKB/TrEMBL:Q7Z5Y4
Q8IVH0	GenPept	UniProtKB/TrEMBL:Q8IVH0