HLA-DRB5 - major histocompatibility complex, class II, DR beta 5 Gene

中文名称：主要组织相容性复合体，II 类，DR beta 5

种属: Homo sapiens

同用名: HLA-DRB5*

基因 ID: 3127 | 基因类型: protein coding

关于 HLA-DRB5

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,517,353-32,530,287 (from NCBI)

This gene has 1 transcript (splice variant), 118 orthologues and 13 paralogues. Broad expression in lung (RPKM 275.5), lymph node (RPKM 163.3) and 14 other tissues.

功能概要

HLA-DRB5 属于 HLA II 类β链旁系同源物。这种 II 类分子是一种异二聚体，由一条 alpha (DRA) 和一条 beta (DRB) 链组成，它们都锚定在膜中。它通过呈递源自细胞外蛋白的肽在免疫系统中发挥核心作用。 II 类分子在抗原呈递细胞中表达。 β链约为 26-28 kDa，其基因包含 6 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，外显子 5 编码细胞质尾部。在 DR 分子内，β 链包含指定肽结合特异性的所有多态性。这些多态性的分型通常用于骨髓和肾移植。该基因有多个假基因。[RefSeq 提供，2020 年 2 月]

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting Peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

HLA-DRB5 基因产物(1)

mRNA	Protein	Name
NM_002125.4	NP_002116.2	major histocompatibility complex, class II, DR beta 5 precursor

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	28514442	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in late endosome membrane	IDA IDA: 通过直接分析推断	18305173	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	18305173	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-DRB5 蛋白结构

MHC_II_beta

C1-set

0
100
200
266 a.a.

蛋白主名

其他名称

major histocompatibility complex, class II, DR beta 5

DR beta-5

HLA-DRB5 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
种属内	HLA-DRB5	Q30154	CHEK1	Homo sapiens	O14757	Anti Tag CoIP	33961781
种属内	HLA-DRB5	Q30154	CHEK1	Homo sapiens	O14757	Anti Tag CoIP	28514442

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

Pityriasis Rosea

Pityriasis Circinata

Gibert Pityriasis

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

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]

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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HLA-DRB5 - major histocompatibility complex, class II, DR beta 5 Gene

关于 HLA-DRB5

功能概要

HLA-DRB5 基因产物(1)

HLA-DRB5 蛋白结构

HLA-DRB5 蛋白互作信息

关联疾病

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HLA-DRB5 - major histocompatibility complex, class II, DR beta 5 Gene

关于 HLA-DRB5

功能概要

HLA-DRB5 基因产物(1)

HLA-DRB5 蛋白结构

HLA-DRB5 蛋白互作信息

关联疾病

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热门区域

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C

F

G

H

J

L

N

Q

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