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  2. HLA-DMA - major histocompatibility complex, class II, DM alpha Gene

HLA-DMA - major histocompatibility complex, class II, DM alpha Gene

中文名称:主要组织相容性复合体,II 类,DM α

种属: Homo sapiens

同用名: DMA; HLADM; RING6; D6S222E

基因 ID: 3108 | 基因类型: protein coding

关于 HLA-DMA

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,948,618-32,953,097 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 111 orthologues and 13 paralogues. Broad expression in lymph node (RPKM 124.3), lung (RPKM 102.4) and 24 other tissues.

功能概要

HLA-DMA 属于 HLA II 类α链旁系同源物。这种 II 类分子是一种异二聚体,由一条 alpha (DMA) 和一条 beta 链 (DMB) 组成,两者都锚定在膜中。它位于细胞内囊泡中。 DM 通过帮助从肽结合位点释放 CLIP 分子,在 MHC II 类分子的肽加载中起着核心作用。 II 类分子在抗原呈递细胞 (APC:B 淋巴细胞、树突细胞、巨噬细胞) 中表达。 α 链约为 33-35 kDa,其基因包含 5 个外显子。外显子 1 编码前导肽,外显子 2 和 3 编码两个细胞外结构域,外显子 4 编码跨膜结构域和细胞质尾部。[RefSeq 提供,2008 年 7 月]

HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-DMA 基因产物(1)

mRNA Protein Name
NM_006120.4 NP_006111.2 HLA class II histocompatibility antigen, DM alpha chain precursor
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 MHC class II protein complex binding IDA
IDA: 通过直接分析推断
9075930 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21131964 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in peptide antigen assembly with MHC class II protein complex IDA
IDA: 通过直接分析推断
7606781 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MHC class II protein complex IDA
IDA: 通过直接分析推断
7606781 GOA
located in cell surface IDA
IDA: 通过直接分析推断
22247549 GOA
located in late endosome membrane IDA
IDA: 通过直接分析推断
9075930 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
9075930 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

HLA-DMA 蛋白结构

MHC_II_alpha

MHC_II_alpha: Class II histocompatibility antigen, alpha domain (41 - 123)

C1-set

C1-set: Immunoglobulin C1-set domain (135 - 207)

  • 0
  • 100
  • 200
  • 261 a.a.
蛋白主名 其他名称

HLA class II histocompatibility antigen, DM alpha chain

MHC class II antigen DMA

重组 HLA-DMA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71463 HLA-DMA Protein, Human (His) Q6ICR9 (V27-C233) ≥95%

关联疾病

疾病名称 别名
Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

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]

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

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
Rattus norvegicus HLA-DMA RGD RGD:735053
Mus musculus HLA-DMA MGD MGI:95921