1. Gene
  2. DMWD - DM1 locus, WD repeat containing Gene

DMWD - DM1 locus, WD repeat containing Gene

中文名称:含 DM1 位点,WD 重复

种属: Homo sapiens

同用名: DMRN9; DMR-N9; gene59; D19S593E

基因 ID: 1762 | 基因类型: protein coding

关于 DMWD

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,782,947-45,792,845 (from NCBI)

This gene has 8 transcripts (splice variants), 186 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues.

功能概要

预测位于树突中;核;和周核体。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be located in dendrite; nucleus; and perikaryon. [provided by Alliance of Genome Resources, Apr 2022]

DMWD 基因产物(1)

mRNA Protein Name
NM_004943.2 NP_004934.1 dystrophia myotonica WD repeat-containing protein
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 deubiquitinase activator activity IDA
IDA: 通过直接分析推断
33844468 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
33844468 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
33844468 GOA
located in nucleus IDA
IDA: 通过直接分析推断
33844468 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

DMWD 蛋白结构

WD40

WD40: WD domain, G-beta repeat (278 - 311)

WD40

WD40: WD domain, G-beta repeat (330 - 354)

WD40

WD40: WD domain, G-beta repeat (360 - 444)

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

dystrophia myotonica WD repeat-containing protein

dystrophia myotonica, WD repeat containing

关联疾病

疾病名称 别名
Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Corticosteroid Allergy
Suppurative Cholangitis
Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis

Hermansky-Pudlak Syndrome 7

HPS7

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 7

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

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 DMWD RGD RGD:1594179
Bos taurus DMWD VGNC VGNC:97261
Mus musculus DMWD MGD MGI:94907