InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXB1

Summary

InnateDB Protein

IDBP-56691.5

Last Modified

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

Gene Symbol

HOXB1

Protein Name

homeobox B1

Synonyms

HCFP3; Hox-2.9; HOX2; HOX2I;

Species

Homo sapiens

Ensembl Protein

ENSP00000355140

InnateDB Gene

IDBG-56689 (HOXB1)

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.

Subcellular Localization

Nucleus.

Disease Associations

Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]: A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. {ECO:0000269PubMed:22770981}. 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 2 interaction(s) predicted by orthology.

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

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0019904	protein domain specific binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007275	multicellular organismal development
GO:0007389	pattern specification process
GO:0009653	anatomical structure morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0021546	rhombomere development
GO:0021570	rhombomere 4 development
GO:0021571	rhombomere 5 development
GO:0021612	facial nerve structural organization
GO:0021754	facial nucleus development
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048646	anatomical structure formation involved in morphogenesis
GO:0048704	embryonic skeletal system morphogenesis