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  2. CIITA - class II major histocompatibility complex transactivator Gene

CIITA - class II major histocompatibility complex transactivator Gene

中文名称:II 类主要组织相容性复合物反式激活因子

种属: Homo sapiens

同用名: C2TA; NLRA; MHC2TA; CIITAIV

基因 ID: 4261 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质具有酸性转录激活结构域、4 个 LRR (富含亮氨酸的重复序列) 和一个 GTP 结合结构域。该蛋白位于细胞核中,作为 II 类主要组织相容性复合体基因转录的正调节因子,被称为这些基因表达的“主控因子”。该蛋白质还结合 GTP 并利用 GTP 结合促进其自身转运到细胞核中。一旦进入细胞核,它就不会结合 DNA,而是利用内在的乙酰转移酶 (AT) 活性以类似共激活剂的方式发挥作用。该基因的突变与 II 型裸淋巴细胞综合征 (也称为遗传性 MHC II 类缺陷或 HLA II 类缺陷联合免疫缺陷) 、类风湿性关节炎、多发性硬化症和可能的心肌梗塞的易感性增加有关。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2013 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
9171108 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10938133 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
17493635 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
19041327 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in PML body IDA
IDA: 通过直接分析推断
23007646 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CIITA 蛋白结构

NACHT

NACHT: NACHT domain (414 - 583)

LRR_4

LRR_4: Leucine Rich repeats (2 copies) (985 - 1032)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1130 a.a.
蛋白主名 其他名称

MHC class II transactivator

MHC class II transactivator type I

CIITA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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