InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALX1

Summary

InnateDB Protein

IDBP-49989.5

Last Modified

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

Gene Symbol

ALX1

Protein Name

ALX homeobox 1

Synonyms

CART1; FND3; HEL23;

Species

Homo sapiens

Ensembl Protein

ENSP00000315417

InnateDB Gene

IDBG-49987 (ALX1)

Protein Structure

UniProt Annotation

Function

Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development. {ECO:0000269PubMed:9753625}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138, ECO:0000269PubMed:9753625}.

Disease Associations

Frontonasal dysplasia 3 (FND3) [MIM:613456]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269PubMed:20451171}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Cartilage and cervix tissue.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001228	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001502	cartilage condensation
GO:0001843	neural tube closure
GO:0006366	transcription from RNA polymerase II promoter
GO:0007275	multicellular organismal development
GO:0007420	brain development
GO:0009952	anterior/posterior pattern specification
GO:0014031	mesenchymal cell development
GO:0030326	embryonic limb morphogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048704	embryonic skeletal system morphogenesis
GO:0060021	palate development