InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXA1

Summary

InnateDB Protein

IDBP-10286.6

Last Modified

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

Gene Symbol

HOXA1

Protein Name

homeobox A1

Synonyms

BSAS; HOX1; HOX1F;

Species

Homo sapiens

Ensembl Protein

ENSP00000343246

InnateDB Gene

IDBG-10280 (HOXA1)

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. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.

Subcellular Localization

Nucleus.

Disease Associations

Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. {ECO:0000269PubMed:16155570}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. 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 93 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	93 [view]
Protein-Protein	86 [view]
Protein-DNA	7 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [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:0006351	transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007275	multicellular organismal development
GO:0007399	nervous system development
GO:0007605	sensory perception of sound
GO:0007634	optokinetic behavior
GO:0008045	motor neuron axon guidance
GO:0009653	anatomical structure morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0021569	rhombomere 3 development
GO:0021570	rhombomere 4 development
GO:0021571	rhombomere 5 development
GO:0021599	abducens nerve formation
GO:0021612	facial nerve structural organization
GO:0021754	facial nucleus development
GO:0021953	central nervous system neuron differentiation
GO:0030902	hindbrain development
GO:0042472	inner ear morphogenesis
GO:0042473	outer ear morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048646	anatomical structure formation involved in morphogenesis
GO:0048702	embryonic neurocranium morphogenesis
GO:0048839	inner ear development
GO:0048844	artery morphogenesis
GO:0050795	regulation of behavior
GO:0050890	cognition
GO:0050905	neuromuscular process
GO:0060840	artery development
GO:0060876	semicircular canal formation
GO:0090102	cochlea development
GO:0090103	cochlea morphogenesis