IRF6

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.

Full Name

Interferon Regulatory Factor 6

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).

Biological Process

Cell developmentIEA:Ensembl
Cranial skeletal system developmentIEA:Ensembl
Immune system processManual Assertion Based On ExperimentIBA:GO_Central
Keratinocyte differentiationIEA:Ensembl
Keratinocyte proliferationIEA:Ensembl
Limb developmentIEA:Ensembl
Mammary gland epithelial cell differentiationISS:UniProtKB
Negative regulation of cell population proliferationManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Roof of mouth developmentIEA:Ensembl

Cellular Location

Cytoplasm; Nucleus. Translocates to nucleus in response to an activating signal.

Involvement in disease

Van der Woude syndrome 1 (VWS1):
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Popliteal pterygium syndrome (PPS):
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.
Non-syndromic orofacial cleft 6 (OFC6):
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.

PTM

Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.