InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALX3

Summary

InnateDB Protein

IDBP-100949.6

Last Modified

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

Gene Symbol

ALX3

Protein Name

ALX homeobox 3

Synonyms

FND; FND1;

Species

Homo sapiens

Ensembl Protein

ENSP00000358807

InnateDB Gene

IDBG-100947 (ALX3)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator with a possible role in patterning of mesoderm during development. {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Frontonasal dysplasia 1 (FND1) [MIM:136760]: 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:19409524}. 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 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

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

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007389	pattern specification process
GO:0035115	embryonic forelimb morphogenesis
GO:0035116	embryonic hindlimb morphogenesis
GO:0042981	regulation of apoptotic process
GO:0048704	embryonic skeletal system morphogenesis