• Gene id: 4261

Gene Summary

• Gene Symbol: CIITA   Gene   UCSC   Ensembl
• Aliases: C2TA, CIITAIV, MHC2TA, NLRA
• Gene name: class II major histocompatibility complex transactivator
• Alternate names: MHC class II transactivator, MHC class II transactivator type I, MHC class II transactivator type III, NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing,
• Gene location: 16p13.13 (10866207: 10941561)     Exons: 27     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 609518

Protein Summary

• Protein general information: P33076  
  • Name: MHC class II transactivator (CIITA) (EC 2.3.1. ) (EC 2.7.11.1)
  • Length: 1130  
  • Mass: 123514
• Sequence:

  MRCLAPRPAGSYLSEPQGSSQCATMELGPLEGGYLELLNSDADPLCLYHFYDQMDLAGEEEIELYSEPDTDTINC
  DQFSRLLCDMEGDEETREAYANIAELDQYVFQDSQLEGLSKDIFKHIGPDEVIGESMEMPAEVGQKSQKRPFPEE
  LPADLKHWKPAEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPMPFSSSSLSCLNLPEG
  PIQFVPTISTLPHGLWQISEAGTGVSSIFIYHGEVPQASQVPPPSGFTVHGLPTSPDRPGSTSPFAPSATDLPSM
  PEPALTSRANMTEHKTSPTQCPAAGEVSNKLPKWPEPVEQFYRSLQDTYGAEPAGPDGILVEVDLVQARLERSSS
  KSLERELATPDWAERQLAQGGLAEVLLAAKEHRRPRETRVIAVLGKAGQGKSYWAGAVSRAWACGRLPQYDFVFS
  VPCHCLNRPGDAYGLQDLLFSLGPQPLVAADEVFSHILKRPDRVLLILDGFEELEAQDGFLHSTCGPAPAEPCSL
  RGLLAGLFQKKLLRGCTLLLTARPRGRLVQSLSKADALFELSGFSMEQAQAYVMRYFESSGMTEHQDRALTLLRD
  RPLLLSHSHSPTLCRAVCQLSEALLELGEDAKLPSTLTGLYVGLLGRAALDSPPGALAELAKLAWELGRRHQSTL
  QEDQFPSADVRTWAMAKGLVQHPPRAAESELAFPSFLLQCFLGALWLALSGEIKDKELPQYLALTPRKKRPYDNW
  LEGVPRFLAGLIFQPPARCLGALLGPSAAASVDRKQKVLARYLKRLQPGTLRARQLLELLHCAHEAEEAGIWQHV
  VQELPGRLSFLGTRLTPPDAHVLGKALEAAGQDFSLDLRSTGICPSGLGSLVGLSCVTRFRAALSDTVALWESLQ
  QHGETKLLQAAEEKFTIEPFKAKSLKDVEDLGKLVQTQRTRSSSEDTAGELPAVRDLKKLEFALGPVSGPQAFPK
  LVRILTAFSSLQHLDLDALSENKIGDEGVSQLSATFPQLKSLETLNLSQNNITDLGAYKLAEALPSLAASLLRLS
  LYNNCICDVGAESLARVLPDMVSLRVMDVQYNKFTAAGAQQLAASLRRCPHVETLAMWTPTIPFSVQEHLQQQDS
  RISLR

• Structural information:
  • Protein Domains: (414..72-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR001611  IPR032675  IPR008095  IPR007111  IPR041267   IPR027417  
  • Prosite: PS51450 PS50837
  • STRING: ENSP00000485010
• Other Databases: GeneCards:  CIITA  Malacards:  CIITA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045348	positive regulation of MHC class II biosynthetic process	IBA	biological process
GO:0045345	positive regulation of MHC class I biosynthetic process	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0033613	activating transcription factor binding	IBA	molecular function
GO:0006954	inflammatory response	IBA	biological process
GO:0016605	PML body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0006955	immune response	TAS	biological process
GO:0046677	response to antibiotic	IDA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0032966	negative regulation of collagen biosynthetic process	IC	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0045345	positive regulation of MHC class I biosynthetic process	IDA	biological process
GO:0045348	positive regulation of MHC class II biosynthetic process	IC	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0003677	DNA binding	TAS	NOT|molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05152	Tuberculosis
hsa05164	Influenza A
hsa05145	Toxoplasmosis
hsa04612	Antigen processing and presentation
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type2	KEGG:H00985
Combined immunodeficiency	KEGG:H00093
Bare lymphocyte syndrome type2	KEGG:H00985
Addison's disease	PMID:18593762
Multiple sclerosis	PMID:21653641
Myocardial infarction	PMID:15821736
juvenile rheumatoid arthritis	PMID:17661914
Rheumatoid arthritis	PMID:19221398
Systemic lupus erythematosus	PMID:17693604
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881