IRF6
entrez
3664
canonical
uniprot
O14896
canonical
ensembl
ENSG00000117595
resolver
ensp
ENSP00000355988
resolver
ensp
ENSP00000440532
resolver
genesymbol
IRF6
resolver
hgnc
HGNC:6121
resolver
uniprot
B4DLE2
resolver
uniprot
D3DT90
resolver
uniprot
F5GWX8
resolver
uniprot
G0ZTL0
resolver
uniprot_entry
IRF6_HUMAN
resolver
uniprot_sec
B4DLE2
resolver
uniprot_sec
D3DT90
resolver
uniprot_sec
F5GWX8
resolver
uniprot_sec
G0ZTL0
resolver
amino_acid_sequence
MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHATRHSPQQEEENTIFKAWAVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKEVPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQDTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWISSLPMTDLDIKFQYRGKEYGQTMTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKFPGPEHITNEKQKLFTSKLLDVMDRGLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAPNLIERQKKVKLFCLETFLSDLIAHQKGQIEKQPPFEIYLCFGEEWPDGKPLERKLILVQVIPVVARMIYEMFSGDFTRSFDSGSVRLQISTPDIKDNIVAQLKQLYRILQTQESWQPMQPTPSMQLPPALPPQ
uniprot
proteins
disease_involvement
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, ECO:0000269|PubMed:19036739}. Note=The disease is caused by variants 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. {ECO:0000269|PubMed:12219090, ECO:0000269|PubMed:14640121, ECO:0000269|PubMed:19036739, ECO:0000269|PubMed:20803643, ECO:0000269|PubMed:25691407}. Note=The disease is caused by variants affecting the gene represented in this entry.; 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
53130
uniprot
proteins
post_translational_modification
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}.
uniprot
proteins
protein_family
IRF family
uniprot
proteins
pubmed
12219090
uniprot
proteins
pubmed
12920575
uniprot
proteins
pubmed
14618417
uniprot
proteins
pubmed
14640121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15300989
uniprot
proteins
pubmed
15317890
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16049006
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17122170
uniprot
proteins
pubmed
18212048
uniprot
proteins
pubmed
18478600
uniprot
proteins
pubmed
19036739
uniprot
proteins
pubmed
20803643
uniprot
proteins
pubmed
21082654
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25691407
uniprot
proteins
sequence_length
467
uniprot
proteins
subcellular_location
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}.
uniprot
proteins