InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: IRF6

Summary

InnateDB Gene

IDBG-106452.6

Last Modified

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

Gene Symbol

IRF6

Gene Name

interferon regulatory factor 6

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000117595

Encoded Proteins

IDBP-106454

interferon regulatory factor 6

IDBP-389995

interferon regulatory factor 6

IDBP-585136

interferon regulatory factor 6

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 12219090

IRF6 belongs to a family of transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain.

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:209785623-209806175

Strand

Reverse strand

Band

q32.2

Transcripts

ENST00000367021	ENSP00000355988
ENST00000456314	ENSP00000403855
ENST00000464698
ENST00000542854	ENSP00000440532

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

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026638

View Gene Order

ENSBTAG00000002849

Not yet available

Pathways

NETPATH

REACTOME

REACT_25162

Interferon alpha/beta signaling pathway

REACT_25078

Interferon gamma signaling pathway

REACT_75790

Cytokine Signaling in Immune system pathway

REACT_25229

Interferon Signaling pathway

REACT_6900

Immune System pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.591415 Hs.609106 Hs.735356

RefSeq

NM_001206696 NM_006147

HUGO

OMIM

CCDS

CCDS1492 CCDS55681

HPRD

06227

IMGT

EMBL

GenPept

RNA Seq Atlas