1. Gene
  2. MYSM1 - Myb like, SWIRM and MPN domains 1 Gene

MYSM1 - Myb like, SWIRM and MPN domains 1 Gene

中文名称:Myb 类、SWIRM 和 MPN 域 1

种属: Homo sapiens

同用名: 2ADUB; BMFS4; 2A-DUB

基因 ID: 114803 | 基因类型: protein coding

关于 MYSM1

Cytogenetic location: 1p32.1 Genomic coordinates (GRCh38): 1:58,654,743-58,700,062 (from NCBI)

This gene has 26 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.9), lymph node (RPKM 7.4) and 25 other tissues.

功能概要

启用组蛋白结合活动;肽酶活性;和转录共激活因子活性。参与多个过程,包括染色质重塑;单泛素化组蛋白 H2A 去泛素化;和 RNA 聚合酶 II 对转录的正调控。位于核仁和核质中。部分含蛋白质复合物。与糖尿病视网膜病变有关。 [由基因组资源联盟提供,2022 年 4 月]

Enables histone binding activity; peptidase activity; and transcription coactivator activity. Involved in several processes, including chromatin remodeling; monoubiquitinated histone H2A deubiquitination; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Apr 2022]

MYSM1 基因产物(1)

mRNA Protein Name
NM_001085487.3 NP_001078956.1 deubiquitinase MYSM1

MYSM1 蛋白结构

Myb_DNA-binding

Myb_DNA-binding: Myb-like DNA-binding domain (120 - 162)

SWIRM

SWIRM: SWIRM domain (374 - 461)

JAB

JAB: JAB1/Mov34/MPN/PAD-1 ubiquitin protease (576 - 679)

  • 0
  • 200
  • 400
  • 600
  • 828 a.a.
蛋白主名 其他名称

deubiquitinase MYSM1

histone H2A deubiquitinase MYSM1

MYSM1 抗体

目录号 产品名 应用 反应物种
HY-P80939 MYSM1 Antibody WB, IHC-P Human, Mouse

关联疾病

疾病名称 别名
Bone Marrow Failure Syndrome 4

BMFS4

Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome

Mysm1 Deficiency

Hepatic Venoocclusive Disease With Immunodeficiency

VODI

Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome

Hepatic Veno-Occlusive Disease With Immunodeficiency

Familial Veno-Occlusive Disease With Immunodeficiency

Veno-Occlusive Disease And Immunodeficiency Syndrome

Vodi Syndrome

Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1

IBD1

Crohn Disease-Associated Growth Failure

Crohn Disease

Regional Enteritis

Ulcerative Colitis

Crohn Disease-Associated Growth Failure, Susceptibility To

Inflammatory Bowel Disease 1, Crohn Disease

Bowel Disease, Inflammatory, Type 1

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

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 MYSM1 RGD RGD:1311787
Macaca mulatta MYSM1 VGNC VGNC:75039
Canis familiaris MYSM1 VGNC VGNC:43590
Mus musculus MYSM1 MGD MGI:2444584
Felis catus MYSM1 VGNC VGNC:63698
Bos taurus MYSM1 VGNC VGNC:31847