Log in / Register

MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MGP001654

UniProt Annotations

Entry Information

Gene Name	interferon regulatory factor 6
Protein Entry	IRF6_HUMAN
UniProt ID	O14896
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14896-1; Sequence=Displayed; Name=2; IsoId=O14896-2; Sequence=VSP_046435; Note=No experimental confirmation available.;
Disease	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:0000269\|PubMed:15317890, ECO:0000269\|PubMed:21082654}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	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.
Disease	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:0000269\|PubMed:12219090, ECO:0000269\|PubMed:12920575, ECO:0000269\|PubMed:14618417, ECO:0000269\|PubMed:14640121, ECO:0000269\|PubMed:15300989, ECO:0000269\|PubMed:17122170, ECO:0000269\|PubMed:18478600}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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}.
Interaction	Q02556:IRF8; NbExp=3; IntAct=EBI-6115643, EBI-2866563;
Ptm	Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation. {ECO:0000269\|PubMed:16049006, ECO:0000269\|PubMed:18212048}.
Similarity	Belongs to the IRF family. {ECO:0000255\|PROSITE- ProRule:PRU00840}.
Similarity	Contains 1 IRF tryptophan pentad repeat DNA-binding domain. {ECO:0000255\|PROSITE-ProRule:PRU00840}.
Subcellular Location	Nucleus {ECO:0000305}. Cytoplasm {ECO:0000269\|PubMed:16049006, ECO:0000269\|PubMed:18212048}. Note=Translocates to nucleus in response to an activating signal. {ECO:0000250}.
Subunit	Interacts with SERPINB5. {ECO:0000269\|PubMed:16049006}.
Tissue Specificity	Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. {ECO:0000269\|PubMed:16049006}.