(data stored in ACNUC1122 zone)

HOGENOM: HS16_PE624

ID   HS16_PE624                           STANDARD;      PRT;   1130 AA.
AC   HS16_PE624; P33076; D3DUG0;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=MHC class II transactivator; Short=CIITA; (HS16.PE624).
GN   Name=CIITA; Synonyms=MHC2TA;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS16.PE624.
CC       Homo sapiens chromosome 16 GRCh37  sequence 1..90294753 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:C2TA_HUMAN
CC   -!- FUNCTION: Essential for transcriptional activity of the HLA class
CC       II promoter; activation is via the proximal promoter. No DNA
CC       binding of in vitro translated CIITA was detected. May act in a
CC       coactivator-like fashion through protein-protein interactions by
CC       contacting factors binding to the proximal MHC class II promoter,
CC       to elements of the transcription machinery, or both. Alternatively
CC       it may activate HLA class II transcription by modifying proteins
CC       that bind to the MHC class II promoter.
CC   -!- SUBUNIT: Interacts with ZXDA and ZXDC.
CC   -!- INTERACTION:
CC       P98168:ZXDA; NbExp=4; IntAct=EBI-1538819, EBI-1538980;
CC       Q2QGD7:ZXDC; NbExp=6; IntAct=EBI-1538819, EBI-1538838;
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- DISEASE: Defects in CIITA are a cause of bare lymphocyte syndrome
CC       type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II
CC       deficiency or HLA class II-deficient combined immunodeficiency.
CC       BLS2 is a severe combined immunodeficiency disease with early
CC       onset. It is characterized by a profound defect in constitutive
CC       and interferon-gamma induced MHC II expression, absence of
CC       cellular and humoral T-cell response to antigen challenge,
CC       hypogammaglobulinemia and impaired antibody production. The
CC       consequence include extreme susceptibility to viral, bacterial and
CC       fungal infections.
CC   -!- SIMILARITY: Contains 4 LRR (leucine-rich) repeats.
CC   -!- SIMILARITY: Contains 1 NACHT domain.
CC   -!- WEB RESOURCE: Name=CIITAbase; Note=CIITA mutation db;
CC       URL="http://bioinf.uta.fi/CIITAbase/";
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/MHC2TAID260.html";
CC   -!- GENE_FAMILY: HOG000107439 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000179583;ENST00000324288;ENSP00000316328.
DR   EMBL; AC133065; - ;
DR   EMBL; AF410154; - ;
DR   EMBL; AY084055; - ;
DR   EMBL; AY699071; - ;
DR   EMBL; CH471112; - ;
DR   EMBL; EF064747; - ;
DR   EMBL; U18259; - ;
DR   EMBL; U31931; - ;
DR   EMBL; X74301; - ;
DR   UniProtKB/Swiss-Prot; P33076; D3DUG0; -.
DR   EMBL; X74301; CAA52354.1; -; mRNA.
DR   EMBL; U18259; AAA88861.1; -; mRNA.
DR   EMBL; AC133065; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471112; EAW85169.1; -; Genomic_DNA.
DR   EMBL; CH471112; EAW85172.1; -; Genomic_DNA.
DR   IPI; IPI00186224; -.
DR   PIR; A48843; A48843.
DR   RefSeq; NP_000237.2; NM_000246.3.
DR   UniGene; Hs.701991; -.
DR   ProteinModelPortal; P33076; -.
DR   SMR; P33076; 412-439, 951-1120.
DR   IntAct; P33076; 2.
DR   STRING; P33076; -.
DR   PhosphoSite; P33076; -.
DR   PRIDE; P33076; -.
DR   Ensembl; ENST00000324288; ENSP00000316328; ENSG00000179583.
DR   GeneID; 4261; -.
DR   KEGG; hsa:4261; -.
DR   UCSC; uc002dai.2; human.
DR   CTD; 4261; -.
DR   GeneCards; GC16P010879; -.
DR   HGNC; HGNC:7067; CIITA.
DR   HPA; CAB016084; -.
DR   MIM; 209920; phenotype.
DR   MIM; 600005; gene.
DR   neXtProt; NX_P33076; -.
DR   Orphanet; 572; Immunodeficiency by defective expression of HLA class 2.
DR   PharmGKB; PA30795; -.
DR   OMA; LYNNCIC; -.
DR   OrthoDB; EOG48PMJD; -.
DR   Reactome; REACT_6900; Immune System.
DR   NextBio; 16805; -.
DR   ArrayExpress; P33076; -.
DR   Bgee; P33076; -.
DR   CleanEx; HS_CIITA; -.
DR   Genevestigator; P33076; -.
DR   GermOnline; ENSG00000179583; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0033613; F:activating transcription factor binding; IPI:BHF-UCL.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0008022; F:protein C-terminus binding; IPI:UniProtKB.
DR   GO; GO:0032403; F:protein complex binding; IDA:UniProtKB.
DR   GO; GO:0003713; F:transcription coactivator activity; TAS:ProtInc.
DR   GO; GO:0044212; F:transcription regulatory region DNA binding; IDA:BHF-UCL.
DR   GO; GO:0060333; P:interferon-gamma-mediated signaling pathway; TAS:Reactome.
DR   GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL.
DR   GO; GO:0045345; P:positive regulation of MHC class I biosynthetic process; IDA:BHF-UCL.
DR   GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
DR   GO; GO:0046677; P:response to antibiotic; IDA:MGI.
DR   GO; GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.
DR   InterPro; IPR001611; Leu-rich_rpt.
DR   InterPro; IPR008095; MHC_II_transact.
DR   InterPro; IPR007111; NACHT_NTPase.
DR   PRINTS; PR01719; MHCIIACTVATR.
DR   PROSITE; PS51450; LRR; 4.
DR   PROSITE; PS50837; NACHT; 1.
DR   HOGENOMDNA; HS16.PE624; -.
KW   ENSG000001795831755old_1320000031; ENSP000003163287901old_1320000031;
KW   A0N0N9_HUMAN; D3DUG0_HUMAN; Q29704_HUMAN; Q66X48_HUMAN; Q8SNB7_HUMAN;
KW   AC133065; AF410154; AY084055; AY699071; CH471112; EF064747; U18259;
KW   X74301;
KW   Activator; ATP-binding; Complete proteome; Disease mutation;
KW   Leucine-rich repeat; Nucleotide-binding; Nucleus; Polymorphism;
KW   Reference proteome; Repeat; SCID; Transcription;
KW   Transcription regulation.
SQ   SEQUENCE   1130 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MRCLAPRPAG SYLSEPQGSS QCATMELGPL EGGYLELLNS DADPLCLYHF YDQMDLAGEE
     EIELYSEPDT DTINCDQFSR LLCDMEGDEE TREAYANIAE LDQYVFQDSQ LEGLSKDIFK
     HIGPDEVIGE SMEMPAEVGQ KSQKRPFPEE LPADLKHWKP AEPPTVVTGS LLVRPVSDCS
     TLPCLPLPAL FNQEPASGQM RLEKTDQIPM PFSSSSLSCL NLPEGPIQFV PTISTLPHGL
     WQISEAGTGV SSIFIYHGEV PQASQVPPPS GFTVHGLPTS PDRPGSTSPF APSATDLPSM
     PEPALTSRAN MTEHKTSPTQ CPAAGEVSNK LPKWPEPVEQ FYRSLQDTYG AEPAGPDGIL
     VEVDLVQARL ERSSSKSLER ELATPDWAER QLAQGGLAEV LLAAKEHRRP RETRVIAVLG
     KAGQGKSYWA GAVSRAWACG RLPQYDFVFS VPCHCLNRPG DAYGLQDLLF SLGPQPLVAA
     DEVFSHILKR PDRVLLILDG FEELEAQDGF LHSTCGPAPA EPCSLRGLLA GLFQKKLLRG
     CTLLLTARPR GRLVQSLSKA DALFELSGFS MEQAQAYVMR YFESSGMTEH QDRALTLLRD
     RPLLLSHSHS PTLCRAVCQL SEALLELGED AKLPSTLTGL YVGLLGRAAL DSPPGALAEL
     AKLAWELGRR HQSTLQEDQF PSADVRTWAM AKGLVQHPPR AAESELAFPS FLLQCFLGAL
     WLALSGEIKD KELPQYLALT PRKKRPYDNW LEGVPRFLAG LIFQPPARCL GALLGPSAAA
     SVDRKQKVLA RYLKRLQPGT LRARQLLELL HCAHEAEEAG IWQHVVQELP GRLSFLGTRL
     TPPDAHVLGK ALEAAGQDFS LDLRSTGICP SGLGSLVGLS CVTRFRAALS DTVALWESLQ
     QHGETKLLQA AEEKFTIEPF KAKSLKDVED LGKLVQTQRT RSSSEDTAGE LPAVRDLKKL
     EFALGPVSGP QAFPKLVRIL TAFSSLQHLD LDALSENKIG DEGVSQLSAT FPQLKSLETL
     NLSQNNITDL GAYKLAEALP SLAASLLRLS LYNNCICDVG AESLARVLPD MVSLRVMDVQ
     YNKFTAAGAQ QLAASLRRCP HVETLAMWTP TIPFSVQEHL QQQDSRISLR
//

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