1. Gene
  2. ABHD17A - abhydrolase domain containing 17A, depalmitoylase Gene

ABHD17A - abhydrolase domain containing 17A, depalmitoylase Gene

中文名称:含脱棕榈酰酶的脱氢酶结构域 17A

种属: Homo sapiens

同用名: C19orf27; FAM108A1

基因 ID: 81926 | 基因类型: protein coding

关于 ABHD17A

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,876,810-1,885,496 (from NCBI)

This gene has 8 transcripts (splice variants), 279 orthologues and 7 paralogues. Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues.

功能概要

启用棕榈酰 (蛋白质) 水解酶活性。参与蛋白质去棕榈酰化和蛋白质在膜上的定位。位于核内体膜;核斑点;和质膜。 [由基因组资源联盟提供,2022 年 4 月]

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ABHD17A 基因产物(2)

mRNA Protein Name
NM_001130111.2 NP_001123583.1 alpha/beta hydrolase domain-containing protein 17A isoform 2
NM_031213.4 NP_112490.3 alpha/beta hydrolase domain-containing protein 17A isoform 1

ABHD17A 蛋白结构

Abhydrolase_5

Abhydrolase_5: Alpha/beta hydrolase family (113 - 285)

  • 0
  • 100
  • 200
  • 310 a.a.
蛋白主名 其他名称

alpha/beta hydrolase domain-containing protein 17A

abhydrolase domain-containing protein 17A

关联疾病

疾病名称 别名
Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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
Felis catus ABHD17A VGNC VGNC:59482
Mus musculus ABHD17A MGD MGI:106388
Rattus norvegicus ABHD17A RGD RGD:1359682
Canis familiaris ABHD17A VGNC VGNC:37465
Bos taurus ABHD17A VGNC VGNC:25497
Macaca mulatta ABHD17A VGNC VGNC:69543