InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CIITA

Summary

InnateDB Gene

IDBG-14377.6

Last Modified

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

Gene Symbol

CIITA

Gene Name

class II, major histocompatibility complex, transactivator

Synonyms

C2TA; CIITAIV; MHC2TA; NLRA

Species

Homo sapiens

Ensembl Gene

ENSG00000179583

Encoded Proteins

IDBP-14385

class II, major histocompatibility complex, transactivator

IDBP-14389

class II, major histocompatibility complex, transactivator

IDBP-751348

IDBP-749226

IDBP-811275

class II, major histocompatibility complex, transactivator

IDBP-811279

class II, major histocompatibility complex, transactivator

IDBP-811283

class II, major histocompatibility complex, transactivator

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. [provided by RefSeq, Jul 2008]
This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:10877198-10932281

Strand

Forward strand

Band

p13.13

Transcripts

ENST00000324288	ENSP00000316328
ENST00000381835	ENSP00000371257
ENST00000537380
ENST00000571190
ENST00000571186	ENSP00000459829
ENST00000576601	ENSP00000459608
ENST00000573309
ENST00000575513
ENST00000572665
ENST00000570546
ENST00000571545
ENST00000618327	ENSP00000485010
ENST00000618207	ENSP00000484761
ENST00000611587	ENSP00000483487

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.

Experimentally validated
Total	69 [view]
Protein-Protein	28 [view]
Protein-DNA	41 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	19 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003713	transcription coactivator activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0005525	GTP binding
GO:0008022	protein C-terminus binding
GO:0016301	kinase activity
GO:0016746	transferase activity, transferring acyl groups
GO:0032403	protein complex binding
GO:0033613	activating transcription factor binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006954	inflammatory response
GO:0006955	immune response
GO:0007568	aging
GO:0016310	phosphorylation
GO:0019221	cytokine-mediated signaling pathway
GO:0032966	negative regulation of collagen biosynthetic process
GO:0034341	response to interferon-gamma
GO:0045345	positive regulation of MHC class I biosynthetic process
GO:0045348	positive regulation of MHC class II biosynthetic process
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046677	response to antibiotic
GO:0060333	interferon-gamma-mediated signaling pathway
GO:0071257	cellular response to electrical stimulus
GO:0071346	cellular response to interferon-gamma
GO:0071360	cellular response to exogenous dsRNA

Cellular Component

GO:0005654	nucleoplasm
GO:0009986	cell surface
GO:0016605	PML body

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000022504

View Gene Order

ENSBTAG00000020649

Not yet available

Pathways

NETPATH

REACTOME

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

hsa04612

Antigen processing and presentation pathway

hsa05340

Primary immunodeficiency pathway

hsa05145

Toxoplasmosis pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

4261

UniGene

Hs.665026 Hs.701991 Hs.716787

RefSeq

NM_000246 NM_001286402 NM_001286403 XM_005255320 XM_005255321

HUGO

HGNC:7067

OMIM

600005

CCDS

CCDS10544 CCDS66943 CCDS73826

HPRD

02475

IMGT

EMBL

GenPept

RNA Seq Atlas

4261