2. Gene
  3. HMSD - histocompatibility minor serpin domain containing Gene

HMSD - histocompatibility minor serpin domain containing Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：含组织相容性次要 serpin 结构域

种属: Homo sapiens

同用名: ACC6; ACC-6; HSMD-v; C18orf53

基因 ID: 284293 | 基因类型: protein coding

关于 HMSD

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:63,949,301-63,969,648 (from NCBI)

This gene has 4 transcripts (splice variants), 102 orthologues and 36 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码一种含有丝氨酸蛋白酶抑制蛋白结构域的蛋白质，可作为丝氨酸蛋白酶抑制剂发挥作用。该基因主要在髓系细胞中表达。该基因的多态性可能导致表达一种编码次要组织相容性抗原的剪接变体。[RefSeq 提供，2010 年 10 月]

This gene encodes a serpin-domain containing protein that may function as a Serine Protease Inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]

HMSD 基因产物(1)

mRNA Protein Name
NM_001123366.2 NP_001116838.1 serpin-like protein HMSD
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of immune response IDA
IDA: 通过直接分析推断
17409267 GOA
involved in activation of immune response IMP
IMP: 通过突变表型推断
17409267 GOA
involved in cytolysis IMP
IMP: 通过突变表型推断
17409267 GOA
involved in positive regulation of type II interferon production IMP
IMP: 通过突变表型推断
17409267 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

HMSD 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (1 - 115)

  • 0
  • 100
  • 139 a.a.
蛋白主名 其他名称

serpin-like protein HMSD

minor histocompatibility protein HMSD

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 16

PCH16

Pontocerebellar Hypoplasia Type 16

Pontocerebellar Hypoplasia 16

Doid:0112333
Bubonic Plague

Black Death

Plague, Bubonic

Plague, Septicemic

Pestis Bubonica
Pneumonic Plague

Primary Pneumonic Plague

Secondary Pneumonic Plague

Plague

Plague, Pneumonic

Plague Pneumonia

Plague Of Lung

Pulmonary Plague

Pneumonia Due To Yersinia Pestis
Septicemic Plague

Plague, Septicemic
Plague

Yersiniosis

Yersinia Infections

Infection By Yersinia Pestis

Pasteurella Pestis Infection

Pestilential Fever

Yersinia Pestis Infection
Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06251 HMSD Human Pre-designed siRNA Set A Pre-designed Set / 否
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