CIITA
entrez
4261
canonical
uniprot
P33076
canonical
ensembl
ENSG00000179583
resolver
ensp
ENSP00000316328
resolver
ensp
ENSP00000371257
resolver
ensp
ENSP00000485010
resolver
ensp
ENSP00000556183
resolver
ensp
ENSP00000556184
resolver
ensp
ENSP00000556185
resolver
ensp
ENSP00000639889
resolver
enst
ENST00000618327
resolver
genesymbol
CIITA
resolver
genesymbol
MHC2TA
resolver
genesymbol_syn
MHC2TA
resolver
hgnc
HGNC:7067
resolver
uniprot
A0A087X2I7
resolver
uniprot
A0A0B4J1S1
resolver
uniprot
A0N0N9
resolver
uniprot
D3DUG0
resolver
uniprot
E9PFE0
resolver
uniprot
Q29675
resolver
uniprot
Q66X48
resolver
uniprot
Q8SNB8
resolver
uniprot
Q96KL4
resolver
uniprot_entry
A0A087X2I7_HUMAN
resolver
uniprot_entry
C2TA_HUMAN
resolver
uniprot_entry
Q66X48_HUMAN
resolver
uniprot_sec
A0A0B4J1S1
resolver
uniprot_sec
A0N0N9
resolver
uniprot_sec
D3DUG0
resolver
uniprot_sec
E9PFE0
resolver
uniprot_sec
Q29675
resolver
uniprot_sec
Q8SNB8
resolver
uniprot_sec
Q96KL4
resolver
amino_acid_sequence
MRCLAPRPAGSYLSEPQGSSQCATMELGPLEGGYLELLNSDADPLCLYHFYDQMDLAGEEEIELYSEPDTDTINCDQFSRLLCDMEGDEETREAYANIAELDQYVFQDSQLEGLSKDIFKHIGPDEVIGESMEMPAEVGQKSQKRPFPEELPADLKHWKPAEPPTVVTGSLLVGPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPMPFSSSSLSCLNLPEGPIQFVPTISTLPHGLWQISEAGTGVSSIFIYHGEVPQASQVPPPSGFTVHGLPTSPDRPGSTSPFAPSATDLPSMPEPALTSRANMTEHKTSPTQCPAAGEVSNKLPKWPEPVEQFYRSLQDTYGAEPAGPDGILVEVDLVQARLERSSSKSLERELATPDWAERQLAQGGLAEVLLAAKEHRRPRETRVIAVLGKAGQGKSYWAGAVSRAWACGRLPQYDFVFSVPCHCLNRPGDAYGLQDLLFSLGPQPLVAADEVFSHILKRPDRVLLILDGFEELEAQDGFLHSTCGPAPAEPCSLRGLLAGLFQKKLLRGCTLLLTARPRGRLVQSLSKADALFELSGFSMEQAQAYVMRYFESSGMTEHQDRALTLLRDRPLLLSHSHSPTLCRAVCQLSEALLELGEDAKLPSTLTGLYVGLLGRAALDSPPGALAELAKLAWELGRRHQSTLQEDQFPSADVRTWAMAKGLVQHPPRAAESELAFPSFLLQCFLGALWLALSGEIKDKELPQYLALTPRKKRPYDNWLEGVPRFLAGLIFQPPARCLGALLGPSAAASVDRKQKVLARYLKRLQPGTLRARQLLELLHCAHEAEEAGIWQHVVQELPGRLSFLGTRLTPPDAHVLGKALEAAGQDFSLDLRSTGICPSGLGSLVGLSCVTRFRAALSDTVALWESLQQHGETKLLQAAEEKFTIEPFKAKSLKDVEDLGKLVQTQRTRSSSEDTAGELPAVRDLKKLEFALGPVSGPQAFPKLVRILTAFSSLQHLDLDALSENKIGDEGVSQLSATFPQLKSLETLNLSQNNITDLGAYKLAEALPSLAASLLRLSLYNNCICDVGAESLARVLPDMVSLRVMDVQYNKFTAAGAQQLAASLRRCPHVETLAMWTPTIPFSVQEHLQQQDSRISLR
uniprot
proteins
disease_involvement
DISEASE: MHC class II deficiency 1 (MHC2D1) [MIM:209920]: An autosomal recessive immunologic disorder characterized by the loss of expression of MHC class II antigens on antigen-presenting cells. Affected individuals present in early infancy with severe recurrent bacterial, viral, fungal and parasitic infections, usually affecting the gastrointestinal and respiratory tracts. {ECO:0000269|PubMed:10501838, ECO:0000269|PubMed:11466404, ECO:0000269|PubMed:11862382, ECO:0000269|PubMed:7749984, ECO:0000269|PubMed:8402893}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter (PubMed:16600381, PubMed:17493635, PubMed:7749984, PubMed:8402893, PubMed:40608405). Does not bind DNA (PubMed:16600381, PubMed:17493635, PubMed:7749984, PubMed:8402893). May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both PubMed:8402893, PubMed:7749984, (PubMed:16600381, PubMed:17493635). Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter (PubMed:16600381, PubMed:17493635, PubMed:7749984, PubMed:8402893). Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Activates CD74 transcription (PubMed:32855215). Exhibits intrinsic GTP-stimulated acetyltransferase activity (PubMed:11172716). Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro) (PubMed:24036077). Has antiviral activity against Ebola virus and coronaviruses, including SARS-CoV-2 (PubMed:32855215). Induces resistance by up-regulation of the p41 isoform of CD74, which blocks cathepsin-mediated cleavage of viral glycoproteins, thereby preventing viral fusion (PubMed:32855215). {ECO:0000269|PubMed:11172716, ECO:0000269|PubMed:16600381, ECO:0000269|PubMed:17493635, ECO:0000269|PubMed:24036077, ECO:0000269|PubMed:32855215, ECO:0000269|PubMed:40608405, ECO:0000269|PubMed:7749984, ECO:0000269|PubMed:8402893}.; FUNCTION: [Isoform 3]: Exhibits dominant-negative suppression of MHC class II gene expression. {ECO:0000269|PubMed:12919287}.
uniprot
proteins
mass_dalton
123415
uniprot
proteins
mutagenesis
MUTAGEN 420..421; /note="Missing: Strongly reduces GTP-binding and abolishes transactivation at MHC promoters."; /evidence="ECO:0000269|PubMed:10464099"; MUTAGEN 561; /note="D->A: Strongly reduces GTP-binding and abolishes transactivation at MHC promoters."; /evidence="ECO:0000269|PubMed:10464099
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated, affecting interaction with TAF7. {ECO:0000269|PubMed:24036077}.
uniprot
proteins
pubmed
10464099
uniprot
proteins
pubmed
10501838
uniprot
proteins
pubmed
11172716
uniprot
proteins
pubmed
11466404
uniprot
proteins
pubmed
11862382
uniprot
proteins
pubmed
12859996
uniprot
proteins
pubmed
12919287
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16600381
uniprot
proteins
pubmed
17493635
uniprot
proteins
pubmed
20937824
uniprot
proteins
pubmed
23007646
uniprot
proteins
pubmed
24036077
uniprot
proteins
pubmed
32855215
uniprot
proteins
pubmed
40608405
uniprot
proteins
pubmed
7749984
uniprot
proteins
pubmed
8402893
uniprot
proteins
sequence_length
1130
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11172716, ECO:0000269|PubMed:23007646}. Nucleus, PML body {ECO:0000269|PubMed:23007646}. Note=Recruited to PML body by PML. {ECO:0000269|PubMed:23007646}.
uniprot
proteins