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MHC2TA (MHC class II transactivator)

Identity

Other namesC2TA
HGNC CIITA
Location 16p13
Location_base_pair Starts at 10878556 and ends at 10926341 bp from pter ( according to hg18-Mar_2006).

DNA/RNA

Transcription 6.7 kb mRNA; coding sequence: 3392 bp

Protein

Description 1130 amino acids
Function non-DNA-binding transcriptional coactivator; highly regulated; IFN-gamma-inducible; transactivator of the major histocompatibility complex (MHC) class II genes, herein the name; DM and Ii (molecules associated to MHC class II) are also regulated by MHC2TA; MHC2TA also transactivates MHC class I; lymphoid cells of MHC2TA-null mice do not express MHC class II

Implicated in

Entity t(3;16)(q27;p13)/ BCL6
Disease non-Hodgkin lymphoma
Prognosis yet unknown (only 1case available with certainty)
Hybrid/Mutated Gene 5' MHC2TA - 3' BCL6; MHC2TA fuses with the second exon of BCL6
Abnormal Protein no fusion protein, but promoter exchange
Oncogenesis BCL6 is a transcription repressor; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation
  
Entity bare lymphocyte syndrome (BLS)
Note at least five complementation groups
Disease severe immunodeficiency due to failure to express MHC class II genes
  

External links

Nomenclature
HGNCCIITA   7067
Entrez_GeneCIITA  4261  class II, major histocompatibility complex, transactivator
Cards
AtlasMHC2TAID260
GeneCardsCIITA
EnsemblCIITA [Search_View]   ENSG00000179583 [Gene_View]  CIITA [Vega]
GenatlasCIITA
GeneLynxCIITA
eGenomeCIITA
euGene4261
Genomic and cartography
GoldenPathCIITA  -  16p13   chr16:10878556-10926341 +  16p13   [Description]    (hg18-Mar_2006)
EnsemblCIITA - 16p13 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneCIITA
Gene and transcription
GenbankAF410154 [ ENTREZ ]
GenbankAY084054 [ ENTREZ ]
GenbankAY084055 [ ENTREZ ]
GenbankAY699071 [ ENTREZ ]
GenbankBE247223 [ ENTREZ ]
RefSeqNM_000246 [ SRS ]    NM_000246 [ ENTREZ ]
RefSeqAC_000059 [ SRS ]    AC_000059 [ ENTREZ ]
RefSeqAC_000148 [ SRS ]    AC_000148 [ ENTREZ ]
RefSeqNC_000016 [ SRS ]    NC_000016 [ ENTREZ ]
RefSeqNT_010393 [ SRS ]    NT_010393 [ ENTREZ ]
RefSeqNW_001838343 [ SRS ]    NW_001838343 [ ENTREZ ]
RefSeqNW_926018 [ SRS ]    NW_926018 [ ENTREZ ]
CCDSCIITA CCDS - NCBI
AceViewCIITA AceView - NCBI
UnigeneHs.701991 [ SRS ]    Hs.701991 [ NCBI ]     HS701991 [ spliceNest ]
Fast-db3551 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP33076 [ SRS]    P33076 [ EXPASY ]     P33076 [ INTERPRO ]     P33076 [ UNIPROT ] P33076 [ VarSplice ]
PrositePS50837 NACHT [ SRS ]    PS50837 NACHT [ Expasy ]
InterproIPR000767 Disease_R [ SRS ]    IPR000767 Disease_R [ EBI ]
InterproIPR001611 LRR [ SRS ]    IPR001611 LRR [ EBI ]
InterproIPR008095 MHC_II_transact [ SRS ]    IPR008095 MHC_II_transact [ EBI ]
InterproIPR007111 NACHT_NTPase [ SRS ]    IPR007111 NACHT_NTPase [ EBI ]
CluSTrP33076
PfamPF00560 LRR_1 [ SRS ]    PF00560 LRR_1 [ Sanger ]    pfam00560 [ NCBI-CDD ]
PfamPF05729 NACHT [ SRS ]    PF05729 NACHT [ Sanger ]    pfam05729 [ NCBI-CDD ]
BlocksP33076
HPRD02475
Protein Interaction databases
DIPP33076
IntActP33076
Polymorphism : SNP, mutations, diseases
OMIM126200;180300;209920;600005    [ map ]   
GENECLINICS126200;180300;209920;600005
SNPCIITA [dbSNP-NCBI]  
SNPNM_000246 [SNP-NCI]  
SNPCIITA [GeneSNPs - Utah]  CIITA] [HGBASE - SRS]
HAPMAPCIITA [HAPMAP]  
COSMICCIITA [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDCIITA
Genetic AssociationCIITA
CDC HuGECIITA
General knowledge
Family BrowserCIITA [UCSC Family Browser]
SOURCENM_000246
SMDHs.701991
SAGEHs.701991
GOnucleotide binding [Amigo]  nucleotide binding
GODNA binding [Amigo]  DNA binding
GORNA polymerase II transcription factor activity [Amigo]  RNA polymerase II transcription factor activity
GOtranscription coactivator activity [Amigo]  transcription coactivator activity
GOprotein binding [Amigo]  protein binding
GOprotein binding [Amigo]  protein binding
GOATP binding [Amigo]  ATP binding
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOdefense response [Amigo]  defense response
GOimmune response [Amigo]  immune response
GOtranscription regulator activity [Amigo]  transcription regulator activity
GOubiquitin binding [Amigo]  ubiquitin binding
GOregulation of transcription [Amigo]  regulation of transcription
KEGGAntigen processing and presentation
PubGeneCIITA
TreeFamCIITA
CTD4261 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCIITA Related clones (RZPD - Berlin)
PubMed
PubMed97 Pubmed reference(s) in Entrez

Bibliography

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
Steimle V, Otten LA, Zufferey M, Mach B
Cell. 1993 ; 75 (1) : 135-146.
PMID 8402893
 
CIITA stimulation of transcription factor binding to major histocompatibility complex class II and associated promoters in vivo.
Wright KL, Chin KC, Linhoff M, Skinner C, Brown JA, Boss JM, Stark GR, Ting JP
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (11) : 6267-6272.
PMID 9600954
 
The class II transactivator CIITA is a transcriptional integrator.
Fontes JD, Kanazawa S, Nekrep N, Peterlin BM
Microbes and infection / Institut Pasteur. 1999 ; 1 (11) : 863-869.
PMID 10614003
 
Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.
Yoshida S, Kaneita Y, Aoki Y, Seto M, Mori S, Moriyama M
Oncogene. 1999 ; 18 (56) : 7994-7999.
PMID 10637510
 
CIITA is a transcriptional coactivator that is recruited to MHC class II promoters by multiple synergistic interactions with an enhanceosome complex.
Masternak K, Muhlethaler-Mottet A, Villard J, Zufferey M, Steimle V, Reith W
Genes & development. 2000 ; 14 (9) : 1156-1166.
PMID 10809673
 
Synergistic induction of HLA class I expression by RelA and CIITA.
Girdlestone J
Blood. 2000 ; 95 (12) : 3804-3808.
PMID 10845913
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written07-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . MHC2TA (MHC class II transactivator). Atlas Genet Cytogenet Oncol Haematol. July 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/MHC2TAID260.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Nov 9 19:43:26 2008


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