CIITA - class II major histocompatibility complex transactivator Gene

Also Known as C2TA; NLRA; MHC2TA; CIITAIV

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4261

About CIITA

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:10,866,206-10,943,021 (from NCBI)

This gene has 20 transcripts (splice variants), 139 orthologues, 20 paralogues and is associated with 84 phenotypes. Broad expression in spleen (RPKM 12.7), lymph node (RPKM 11.9) and 19 other tissues.

Summary

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 Products (8)

mRNA	Protein	Name
NM_000246.4	NP_000237.2	MHC class II transactivator isoform 2
NM_001286402.1	NP_001273331.1	MHC class II transactivator isoform 1
NM_001286403.2	NP_001273332.1	MHC class II transactivator isoform 3
NM_001379330.1	NP_001366259.1	MHC class II transactivator isoform 4
NM_001379331.1	NP_001366260.1	MHC class II transactivator isoform 5
NM_001379332.1	NP_001366261.1	MHC class II transactivator isoform 1
NM_001379333.1	NP_001366262.1	MHC class II transactivator isoform 2
NM_001379334.1	NP_001366263.1	MHC class II transactivator isoform 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	9171108	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10938133	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	17493635	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	19041327	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19041327	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19041327	GOA
involved in negative regulation of viral entry into host cell	IDA IDA: Inferred from direct assay	32855215	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19041327	GOA
involved in positive regulation of MHC class I biosynthetic process	IDA IDA: Inferred from direct assay	20639463	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20639463	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	9171108	GOA
acts upstream of or within response to antibiotic	IDA IDA: Inferred from direct assay	107465	GOA
involved in response to type II interferon	IDA IDA: Inferred from direct assay	19041327	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in PML body	IDA IDA: Inferred from direct assay	23007646	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CIITA Protein Structure

NACHT

LRR_4

0
200
400
600
800
1000
1130 a.a.

Protein Preferred Names	Protein Names
MHC class II transactivator	MHC class II transactivator type I

CIITA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CIITA	P33076	ZXDC	Homo sapiens	Q2QGD7	Gal4 VP16 Complement	16600381
Intra	CIITA	P33076	ZXDC	Homo sapiens	Q2QGD7	Y2H	16600381
Intra	CIITA	P33076	ZXDC	Homo sapiens	Q2QGD7	Anti Bait CoIP	16600381
Intra	CIITA	P33076	ZXDA	Homo sapiens	P98168	Transcription Compl	17493635
Intra	CIITA	P33076	SIRT1	Homo sapiens	Q96EB6	Anti Tag CoIP	21890893
Intra	CIITA	P33076	SIRT1	Homo sapiens	Q96EB6	Anti Bait CoIP	21890893
Intra	CIITA	P33076	RFX5	Homo sapiens	P48382	Anti Tag CoIP	10938133

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bare Lymphocyte Syndrome, Type Ii	Mhc Class Ii Deficiency Bare Lymphocyte Syndrome Major Histocompatibility Complex Class Ii Deficiency Bare Lymphocyte Syndrome 2 Bare Lymphocyte Syndrome Type 2 Severe Combined Immunodeficiency, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group C Bare Lymphocyte Syndrome, Type Ii, Complementation Group D Bare Lymphocyte Syndrome Type Ii Scid, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group A Bare Lymphocyte Syndrome, Type Ii, Complementation Group B Scid Due To Absent Class Ii Hla Antigens Hla Class 1 Deficiency Scid, Hla Class 2-Negative Bls Type Ii Bare Lymphocyte Syndrome Type 2, Complementation Group A Bare Lymphocyte Syndrome Type 2, Complementation Group E Severe Combined Immunodeficiency Bls, Type Ii Bls Bare Lymphocyte Syndrome, Type Ii, Complementation Group E Blsii Bls Type 1 Bls 2 Scid Due To Absence Of Class Ii Hla Antigens Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens Immunodeficiency By Defective Expression Of Mhc Class Ii BLS2 Bare Lymphocyte Syndrome Type Ii Complementation Group A Bare Lymphocyte Syndrome Type Ii Complementation Group B Bare Lymphocyte Syndrome Type Ii Complementation Group C Bare Lymphocyte Syndrome Type Ii Complementation Group D Bare Lymphocyte Syndrome Type Ii Complementation Group E Bls Ii Hereditary Mhc Class Ii Deficiency Hla Class Ii Deficient Combined Immunodeficiency Mhc-Ii Deficiency Scid Hla Class Ii-Negative Severe Combined Immunodeficiency Hla Class Ii-Negative Bl-2 Immunodeficiency By Defective Expression Of Hla Class 2 Hla Class 2-Negative Severe Combined Immunodeficiency
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Toxic Shock Syndrome	Septic Shock Toxic Shock Tss Shock, Septic Staphylococcal Toxic Shock Syndrome Tss - [Toxic Shock Syndrome]
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Ocular Cicatricial Pemphigoid	OCP Cicatricial Pemphigoid, Ocular Pemphigoid, Ocular Cicatricial Pemphigoid, Benign Mucous Membrane
Multiple Sclerosis	MS Multiple Sclerosis, Susceptibility To Disseminated Sclerosis Multiple Sclerosis, Disease Progression, Modifier Of Insular Sclerosis Multiple Sclerosis Modifier Of Disease Progression Multiple Sclerosis, Susceptibility To 1 Multiple Sclerosis, Susceptibility To, 1 Multiple Sclerosis 1 Generalized Multiple Sclerosis Multiple Sclerosis Variant Multiple Sclerosis Susceptibility To Cerebrospinal Sclerosis Generalised Multiple Sclerosis Ms - [Multiple Sclerosis] Disseminated Cerebrospinal Sclerosis Disseminated Multiple Sclerosis Disseminated Nervous System Myelosclerosis Multiple Cerebrospinal Sclerosis Multiple Combined Sclerosis Multiple Sclerosis Generalised Disseminated Brain Sclerosis Disseminated Spinal Sclerosis Insular Brain Sclerosis Miliary Brain Sclerosis Multiple Combined Sclerosis Of Spinal Cord Multiple Ascending Sclerosis Multiple Brain Sclerosis Multiple Sclerosis Of Brain Stem Multiple Sclerosis Of The Brain Stem Multiple Sclerosis Of Cord Sclérose En Plaques Plaque Sclerosis Multiple Sclerosis Of The Spinal Cord
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Primary Mediastinal B-Cell Lymphoma	Large Cell Lymphoma Of The Mediastinum Mediastinal Diffuse Large-Cell Lymphoma With Sclerosis Primary Mediastinal Clear Cell Lymphoma Of B-Cell Type
Gray Zone Lymphoma	B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma
Immune Deficiency Disease	Immunodeficiency Primary Immunodeficiency Primary Immunodeficiency Disease Immunologic Deficiency Syndromes Hypoimmunity Immune Deficiency Disorder Immunodeficiency Syndrome Immune Disorder Primary Immune Deficiency Disorder Immune System Diseases Human Immunodeficiency Virus Infection Hiv - [Human Immunodeficiency Virus Infection] Hiv Positive Nos Hiv Disease Acquired Immune Deficiency Syndrome-Related Complex Aids-Like Syndrome Aids-Related Complex Nos Arc - [Aids-Related Complex] Immunodeficiency Due To Human Immunodeficiency Virus Infection Unspecified Human Immunodeficiency Virus Disease Hiv Disease Nos Human Immunodeficiency Virus Positive Nos Hiv Nos Deficiency Of Complement Initial Pathway Deficiency Of Complement Terminal Pathway Cfdd - [Complement Factor D Deficiency] Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency Nonfamilial Hypogammaglobulinaemia Common Variable Immune Deficiency Nonfamilial Agammaglobulinaemia Common Variable Agammaglobulinaemia Agammaglobulinaemia Nos Agammaglobulinaemia Antibody Deficiency Syndrome Hypogammaglobulinaemia Antibody Deficiency Syndrome Acquired Agammaglobulinaemia Nos Hypogammaglobulinaemia Nos Hyper Igm
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Bare Lymphocyte Syndrome, Type I	Hla Class I Deficiency Mhc Class I Deficiency Bls, Type I Bare Lymphocyte Syndrome Type I Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency Blsi Mhc Class 1 Deficiency Major Histocompatibility Complex Class 1 Deficiency Bare Lymphocyte Syndrome 1 BLS1 Bls I Bls Type I Bl-1 Bare Lymphocyte Syndrome Type 1 Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1 Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens Bls - [Bare Lymphocyte Syndrome] Nos
Mediastinal Gray Zone Lymphoma	Mediastinal B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma
Mediastinal Malignant Lymphoma	Lymphoma Of Mediastinum Mediastinal Lymphoma
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Testicular Lymphoma	Malignant Lymphoma Of Testis Lymphoma Of The Testis
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Hashimoto Thyroiditis	Autoimmune Thyroiditis Hashimoto Struma Hashimoto'S Thyroiditis Chronic Lymphocytic Thyroiditis Lymphocytic Thyroiditis Hashimoto Disease Ht Hashimoto'S Disease Hashimoto'S Syndrome Hypothyroidism, Autoimmune Autoimmune Chronic Lymphocytic Thyroiditis Chronic Lymphocytic Thyroiditides Hashimoto Syndrome Hashimotos Thyroiditis Hashimoto Thyroiditis, Susceptibility To Thyroiditis, Autoimmune Lymphomatous Thyroiditis Lymphoid Thyroiditis Chronic Lymphadenoid Thyroiditis Autoimmune Lymphocytic Chronic Thyroiditis Goitre Lymphomatosa Hashitoxicosis Hashimoto Hypothyroidism Lymphadenoid Goitre Struma Lymphomatosa Hyperthyroidism With Hashimoto Disease Hashimoto Thyrotoxicosis Thyrotoxicosis Due To Hashimoto Thyroiditis Struma Lymphomatosis Lymphadenoid Struma
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS02714	CIITA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19181	Ciita Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25669	Ciita Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CIITA	MGD	MGI:108445
Macaca mulatta	CIITA	VGNC	VGNC:71385
Rattus norvegicus	CIITA	RGD	RGD:619813
Bos taurus	CIITA	VGNC	VGNC:27366
Canis familiaris	CIITA	VGNC	VGNC:39273
Felis catus	CIITA	VGNC	VGNC:68254
Others	CIITA	NCBI