Entity Details

Primary name HXA13_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31271
EntryNameHXA13_HUMAN
FullNameHomeobox protein Hox-A13
TaxID9606
Evidenceevidence at protein level
Length388
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesHOXA13

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0001570 vasculogenesis
GO:0001886 endothelial cell morphogenesis
GO:0001894 tissue homeostasis
GO:0003281 ventricular septum development
GO:0003677 DNA binding
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0006357 regulation of transcription by RNA polymerase II
GO:0030510 regulation of BMP signaling pathway
GO:0030539 male genitalia development
GO:0035115 embryonic forelimb morphogenesis
GO:0043565 sequence-specific DNA binding
GO:0045111 intermediate filament cytoskeleton
GO:0045840 positive regulation of mitotic nuclear division
GO:0048839 inner ear development
GO:0048844 artery morphogenesis
GO:0060442 branching involved in prostate gland morphogenesis
GO:0060847 endothelial cell fate specification
GO:1990837 sequence-specific double-stranded DNA binding
GO:2001055 positive regulation of mesenchymal cell apoptotic process

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR022067 Homeobox protein Hox1A3 N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
140000 OMIMHand-foot-genital syndrome (HFG)A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. The disease is caused by variants affecting the gene represented in this entry.
176305 OMIMGuttmacher syndrome (GUTTS)Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. The disease is caused by variants affecting the gene represented in this entry.