1. Gene
  2. ABHD10 - abhydrolase domain containing 10, depalmitoylase Gene

ABHD10 - abhydrolase domain containing 10, depalmitoylase Gene

中文名称:含脱氢酶结构域的脱棕榈酰酶 10

种属: Homo sapiens

基因 ID: 55347 | 基因类型: protein coding

关于 ABHD10

Cytogenetic location: 3q13.2 Genomic coordinates (GRCh38): 3:111,979,026-111,993,368 (from NCBI)

This gene has 5 transcripts (splice variants) and 230 orthologues. Ubiquitous expression in kidney (RPKM 20.6), thyroid (RPKM 19.7) and 25 other tissues.

功能概要

该基因编码一种线粒体定位酶,在肝细胞中充当水解酶。编码的蛋白质从霉酚酸酰基葡糖苷酸中去除葡糖苷酸。该基因在 6 号染色体上有一个假基因。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 1 月]

This gene encodes a mitochondrially-localized Enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ABHD10 基因产物(2)

mRNA Protein Name
NM_001272069.2 NP_001258998.1 palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 2
NM_018394.4 NP_060864.1 palmitoyl-protein thioesterase ABHD10, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables hydrolase activity, hydrolyzing O-glycosyl compounds IDA
IDA: 通过直接分析推断
22294686 GOA
enables palmitoyl-(protein) hydrolase activity IDA
IDA: 通过直接分析推断
31740833 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
33961781 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acyl deglucuronidation IDA
IDA: 通过直接分析推断
22294686 GOA
involved in protein depalmitoylation IDA
IDA: 通过直接分析推断
31740833 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
22294686 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
31740833 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

ABHD10 蛋白结构

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (78 - 272)

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

palmitoyl-protein thioesterase ABHD10, mitochondrial

abhydrolase domain-containing protein 10, mitochondrial

ABHD10 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ABHD10 Q9NUJ1 HSPBAP1 Homo sapiens Q96EW2
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ABHD10 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76706 ABHD10 Protein, Human (sf9, His) Q9NUJ1-1 (T53-N306) ≥95%

关联疾病

疾病名称 别名
Hypoglycemia, Leucine-Induced

Leucine-Sensitive Hypoglycemia Of Infancy

Leucine-Induced Hypoglycemia

LIH

Hypoglycemia Of Infancy, Leucine-Sensitive

Familial Infantile Hypoglycemia Precipitated By Leucine

Hypoglycemia Leucine Induced

Hypoglycemia Leucine-Induced

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease

2p21 Microdeletion Syndrome

HCS

Homozygous 2p16 Deletion Syndrome, Formerly

2p21 Deletion Syndrome

Del(2)(P21)

Monosomy 2p21

Atypical Hypotonia-Cystinuria Syndrome

Atypical Hcs

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Canis familiaris ABHD10 VGNC VGNC:56123
Macaca mulatta ABHD10 VGNC VGNC:69534
Mus musculus ABHD10 MGD MGI:2442422
Rattus norvegicus ABHD10 RGD RGD:1308084
Bos taurus ABHD10 VGNC VGNC:25488
Others ABHD10 NCBI