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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]
CIITA (Class II Major Histocompatibility Complex Transactivator) is a Protein Coding gene. Diseases associated with CIITA include Bare Lymphocyte Syndrome, Type Ii and Rheumatoid Arthritis. Among its related pathways are Tuberculosis and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is NLRP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 19041327 |
GO:0003677 | NOT DNA binding | TAS | 15771576 |
GO:0003713 | transcription coactivator activity | TAS | 7749984 |
GO:0005515 | protein binding | IEA,IPI | 16600381 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0009986 | cell surface | IEA | -- |
GO:0016605 | PML body | IEA,IDA | 23007646 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Interferon gamma signaling | ||
2 | NF-kappaB Signaling | ||
3 | Allograft rejection | ||
4 | Measles |
.33
|
|
5 | Primary immunodeficiency |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IMP | 19041327 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006954 | inflammatory response | IEA,IBA | 21873635 |
GO:0006955 | immune response | TAS | 8402893 |
GO:0007568 | aging | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | · | 21c | ^ | 22a | · | 22b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: | |||||||||||||||||||
SP9: | |||||||||||||||||||
SP10: | |||||||||||||||||||
SP11: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CIITA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CIITA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CIITA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ciita 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ciita 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CIITA 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CIITA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC416633 30 |
|
||
CIITA 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | CIITA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ciita 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ciita 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636656 | Likely Pathogenic: not provided | 10,922,491(+) | G/GT | SPLICE_DONOR_VARIANT | |
638879 | Uncertain Significance: Bare lymphocyte syndrome 2 | 10,907,306(+) | T/G | MISSENSE_VARIANT,INTRON_VARIANT | |
639151 | Uncertain Significance: Bare lymphocyte syndrome 2 | 10,915,580(+) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
639535 | Uncertain Significance: Bare lymphocyte syndrome 2 | 10,902,158(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
640628 | Uncertain Significance: Bare lymphocyte syndrome 2 | 10,907,676(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3637917 | CNV | loss | 21293372 |
esv3637918 | CNV | loss | 21293372 |
nsv1040428 | CNV | gain | 25217958 |
nsv1069918 | CNV | deletion | 25765185 |
nsv1138412 | CNV | deletion | 24896259 |
nsv571452 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bare lymphocyte syndrome, type ii |
|
|
rheumatoid arthritis |
|
|
toxic shock syndrome |
|
|
primary adrenal insufficiency |
|
|
arthritis |
|