Human Gene IRF6 (ENST00000367021.8) from GENCODE V44
Description: Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. (from RefSeq NM_006147) RefSeq Summary (NM_006147): 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.[provided by RefSeq, May 2011]. Gencode Transcript: ENST00000367021.8 Gencode Gene: ENSG00000117595.13 Transcript (Including UTRs) Position: hg38 chr1:209,785,617-209,806,142 Size: 20,526 Total Exon Count: 9 Strand: - Coding Region Position: hg38 chr1:209,788,420-209,801,413 Size: 12,994 Coding Exon Count: 7
ID:IRF6_HUMAN DESCRIPTION: RecName: Full=Interferon regulatory factor 6; Short=IRF-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). SUBUNIT: Interacts with SERPINB5. INTERACTION: Q02556:IRF8; NbExp=3; IntAct=EBI-6115643, EBI-2866563; SUBCELLULAR LOCATION: Nucleus (Potential). Cytoplasm. Note=Translocates to nucleus in response to an activating signal (By similarity). TISSUE SPECIFICITY: Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. PTM: Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation. DISEASE: Defects in IRF6 are the cause of van der Woude syndrome type 1 (VWS1) [MIM:119300]. An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. Penetrance is incomplete. Van der Woude and popliteal pterygium syndrome are allelic disorders. DISEASE: Defects in IRF6 are the cause of popliteal pterygium syndrome (PPS) [MIM:119500]. PPS is an autosomal dominant developmental disorder characterized by cleft lip and/or cleft palate, and skin and genital anomalies. Penetrance is incomplete and expressivity is variable. It shows orofacial phenotypic similarities with van der Woude syndrome. Van der Woude and popliteal pterygium syndrome are allelic disorders. DISEASE: Genetic variation in IRF6 is associated with non- syndromic orofacial cleft type 6 (OFC6) [MIM:608864]; also called non-syndromic cleft lip with or without cleft palate 6. Non- syndromic orofacial cleft is a common 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. SIMILARITY: Belongs to the IRF family. SIMILARITY: Contains 1 IRF tryptophan pentad repeat DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IRF6";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14896
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007050 cell cycle arrest GO:0008285 negative regulation of cell proliferation GO:0030154 cell differentiation GO:0030216 keratinocyte differentiation GO:0043588 skin development GO:0043616 keratinocyte proliferation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter 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
US Server
