InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXA13

Summary

InnateDB Protein

IDBP-10628.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HOXA13

Protein Name

homeobox A13

Synonyms

HOX1; HOX1J;

Species

Homo sapiens

Ensembl Protein

ENSP00000222753

InnateDB Gene

IDBG-10626 (HOXA13)

Protein Structure

UniProt Annotation

Function

Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior- posterior axis.Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular Localization

Nucleus.

Disease Associations

Hand-foot-genital syndrome (HFG) [MIM:140000]: 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. {ECO:0000269PubMed:10839976, ECO:0000269PubMed:12073020}. Note=The disease is caused by mutations affecting the gene represented in this entry.Guttmacher syndrome (GUTTS) [MIM:176305]: 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. {ECO:0000269PubMed:11968094}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0001501	skeletal system development
GO:0001570	vasculogenesis
GO:0001886	endothelial cell morphogenesis
GO:0001894	tissue homeostasis
GO:0003281	ventricular septum development
GO:0006351	transcription, DNA-templated
GO:0009653	anatomical structure morphogenesis
GO:0009887	organ morphogenesis
GO:0030510	regulation of BMP signaling pathway
GO:0030539	male genitalia development
GO:0035115	embryonic forelimb morphogenesis
GO:0045840	positive regulation of mitosis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048839	inner ear development
GO:0048844	artery morphogenesis
GO:0060442	branching involved in prostate gland morphogenesis
GO:0060847	endothelial cell fate specification
GO:2001055	positive regulation of mesenchymal cell apoptotic process