InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXA11

Summary

InnateDB Protein

IDBP-10566.5

Last Modified

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

Gene Symbol

HOXA11

Protein Name

homeobox A11

Synonyms

HOX1; HOX1I;

Species

Homo sapiens

Ensembl Protein

ENSP00000006015

InnateDB Gene

IDBG-10564 (HOXA11)

Protein Structure

UniProt Annotation

Function

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

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RSAT) [MIM:605432]: The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem- cell transplantation. {ECO:0000269PubMed:11101832}. 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 8 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [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

Biological Process

GO:0001501	skeletal system development
GO:0001656	metanephros development
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001759	organ induction
GO:0006351	transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0007283	spermatogenesis
GO:0007338	single fertilization
GO:0007501	mesodermal cell fate specification
GO:0008584	male gonad development
GO:0009653	anatomical structure morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0009953	dorsal/ventral pattern formation
GO:0009954	proximal/distal pattern formation
GO:0010468	regulation of gene expression
GO:0010720	positive regulation of cell development
GO:0030326	embryonic limb morphogenesis
GO:0032330	regulation of chondrocyte differentiation
GO:0032332	positive regulation of chondrocyte differentiation
GO:0035115	embryonic forelimb morphogenesis
GO:0042733	embryonic digit morphogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048589	developmental growth
GO:0060065	uterus development
GO:0060272	embryonic skeletal joint morphogenesis
GO:0060351	cartilage development involved in endochondral bone morphogenesis

Cellular Component

GO:0005634	nucleus
GO:0005667	transcription factor complex
GO:0032993	protein-DNA complex
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR001356 Homeobox domain
IPR009057 Homeodomain-like
IPR020479 Homeodomain, metazoa
IPR021918 Domain of unknown function DUF3528, homeobox protein, eukaryotic

PFAM

PF00046
PF12045

PRINTS

PR00024

PIRSF

SMART

SM00389

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt