InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IRF6

Summary

InnateDB Protein

IDBP-106454.6

Last Modified

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

Gene Symbol

IRF6

Protein Name

interferon regulatory factor 6

Synonyms

LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000355988

InnateDB Gene

IDBG-106452 (IRF6)

Protein Structure

UniProt Annotation

Function

Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000305}. Cytoplasm {ECO:0000269PubMed:16049006, ECO:0000269PubMed:18212048}. Note=Translocates to nucleus in response to an activating signal. {ECO:0000250}.

Disease Associations

Van der Woude syndrome 1 (VWS1) [MIM:119300]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. {ECO:0000269PubMed:12219090, ECO:0000269PubMed:12920575, ECO:0000269PubMed:14618417, ECO:0000269PubMed:14640121, ECO:0000269PubMed:15300989, ECO:0000269PubMed:17122170, ECO:0000269PubMed:18478600}. Note=The disease is caused by mutations affecting the gene represented in this entry.Popliteal pterygium syndrome (PPS) [MIM:119500]: An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. Note=The disease is caused by mutations affecting the gene represented in this entry.Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269PubMed:15317890, ECO:0000269PubMed:21082654}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. {ECO:0000269PubMed:16049006}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	14 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000975	regulatory region DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007050	cell cycle arrest
GO:0008285	negative regulation of cell proliferation
GO:0019221	cytokine-mediated signaling pathway
GO:0030216	keratinocyte differentiation
GO:0043588	skin development
GO:0043616	keratinocyte proliferation
GO:0045087	innate immune response (InnateDB)
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048468	cell development
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0060337	type I interferon signaling pathway
GO:0060644	mammary gland epithelial cell differentiation