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GeneQ14914108· pop 10· linked from 21 articles

Also known as C2TA, CIITAIV, MHC2TA, NLRA, class II, major histocompatibility complex, transactivator, class II major histocompatibility complex transactivator

CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection. Chromosomal rearrangement of CIITA is involved in the pathogenesis of Hodgkin lymphoma and primary mediastinal B cell lymphoma.

Gene data

CIITA
Name
class II major histocompatibility complex transactivator
Type
protein-coding
Aliases
C2TA, CIITAIV, MHC2D1, MHC2TA, NLRA

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].

via MyGene.info

Gene · Ensembl

class II major histocompatibility complex transactivator

Symbol
CIITA
Biotype
Protein coding
Organism
Homo sapiens
Location
16:10,866,222-10,943,021
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts
HomoloGene ID
207
genomic start
10971055
genomic end
10943021
cytogenetic location
16p13.13
Sources (6)

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Article

5 sections
Contents
  • Function
  • Interactions
  • See also
  • References
  • External links

CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection. Chromosomal rearrangement of CIITA is involved in the pathogenesis of Hodgkin lymphoma and primary mediastinal B cell lymphoma.

== Function == CIITA mRNA can only be detected in human leukocyte antigen (HLA) system class II-positive cell lines and tissues. This highly restricted tissue distribution suggests that expression of HLA class II genes is to a large extent under the control of CIITA. However, CIITA does not appear to directly bind to DNA. Instead CIITA functions through activation of the transcription factor RFX5. Hence CIITA is classified as a transcriptional coactivator.

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