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  2. PPP1R21 - protein phosphatase 1 regulatory subunit 21 Gene

PPP1R21 - protein phosphatase 1 regulatory subunit 21 Gene

中文名称:蛋白磷酸酶 1 调节亚基 21

种属: Homo sapiens

同用名: KLRAQ1; CCDC128; NEDHFBA

基因 ID: 129285 | 基因类型: protein coding

关于 PPP1R21

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:48,440,766-48,515,386 (from NCBI)

This gene has 9 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 15.5), kidney (RPKM 15.1) and 25 other tissues.

功能概要

位于早期内体。 [由基因组资源联盟提供,2022 年 4 月]

Located in early endosome. [provided by Alliance of Genome Resources, Apr 2022]

PPP1R21 基因产物(3)

mRNA Protein Name
NM_001135629.3 NP_001129101.1 protein phosphatase 1 regulatory subunit 21 isoform 1
NM_001193475.2 NP_001180404.1 protein phosphatase 1 regulatory subunit 21 isoform 5
NM_152994.5 NP_694539.1 protein phosphatase 1 regulatory subunit 21 isoform 2
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 RNA binding IDA
IDA: 通过直接分析推断
37267906 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26496610 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in early endosome IDA
IDA: 通过直接分析推断
30520571 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

PPP1R21 蛋白结构

KLRAQ

KLRAQ: Predicted coiled-coil domain-containing protein (11 - 112)

TTKRSYEDQ

TTKRSYEDQ: Predicted coiled-coil domain-containing protein (255 - 771)

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

protein phosphatase 1 regulatory subunit 21

KLRAQ motif containing 1

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities

NEDHFBA

Fissured Tongue

Furrowed Tongue

Plicated Tongue

Tongue, Fissured

Congenital Fissure Of Tongue

Congenital Plicated Tongue

Fissure Of Tongue

Fissure Of Tongue, Congenital

Geographic Tongue And Fissured Tongue

Lingua Plicata

Scrotal Tongue

Cerebellar Hypoplasia
Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency

Neuronal Ceroid Lipofuscinosis 10

CLN10

Cathepsin D Deficiency

Congenital Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient

Cln10 Disease

Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient

Cln10 Disease, Adult

Cln10 Disease, Congenital

Cln10 Disease, Juvenile

Cln10 Disease, Late Infantile

Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient

Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis

Congenital Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 10

Neuronal Ceroid Lipofuscinosis, Congenital

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
Bos taurus PPP1R21 VGNC VGNC:33236
Macaca mulatta PPP1R21 VGNC VGNC:76349
Mus musculus PPP1R21 MGD MGI:1921075
Rattus norvegicus PPP1R21 RGD RGD:1565310
Canis familiaris PPP1R21 VGNC VGNC:44889
Felis catus PPP1R21 VGNC VGNC:64322