1. Gene
  2. ABHD4 - abhydrolase domain containing 4, N-acyl phospholipase B Gene

ABHD4 - abhydrolase domain containing 4, N-acyl phospholipase B Gene

中文名称:含脱氢酶结构域 4, N-酰基磷脂酶 B

种属: Homo sapiens

同用名: ABH4

基因 ID: 63874 | 基因类型: protein coding

关于 ABHD4

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,598,300-22,612,963 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues and 12 paralogues. Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues.

功能概要

预测可启用溶血磷脂酸酰基转移酶活性和溶血磷脂酶活性。预计参与 N-酰基磷脂酰乙醇胺代谢过程;脂质体内平衡;和磷脂酸的生物合成过程。预计在 N-酰基乙醇胺代谢过程的上游或内部起作用。预测位于内质网膜。预计在脂滴和线粒体中具有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable lysophosphatidic acid Acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

ABHD4 基因产物(2)

mRNA Protein Name
NM_001392009.1 NP_001378938.1 (Lyso)-N-acylphosphatidylethanolamine lipase isoform b
NM_022060.3 NP_071343.2 (Lyso)-N-acylphosphatidylethanolamine lipase isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

ABHD4 蛋白结构

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (71 - 332)

  • 0
  • 100
  • 200
  • 300
  • 342 a.a.
蛋白主名 其他名称

(Lyso)-N-acylphosphatidylethanolamine lipase

abhydrolase domain-containing protein 4

ABHD4 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
ABHD4 Q8TB40 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
32296183
种属内
ABHD4 Q8TB40 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
种属内
ABHD4 Q8TB40 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
32296183
种属内
ABHD4 Q8TB40 DGAT2L6 Homo sapiens Q6ZPD8
Y2H Prey Pooling
32296183
种属内
ABHD4 Q8TB40 DGAT2L6 Homo sapiens Q6ZPD8
Y2H Array
32296183
种属内
ABHD4 Q8TB40 HTATIP2 Homo sapiens Q9BUP3-3
Validated Y2H
32296183
种属内
ABHD4 Q8TB40 REEP5 Homo sapiens Q00765
Y2H Array
32296183
种属内
ABHD4 Q8TB40 REEP5 Homo sapiens Q00765
Y2H Prey Pooling
32296183
种属内
ABHD4 Q8TB40 DERL1 Homo sapiens Q9BUN8
Validated Y2H
32296183
种属内
ABHD4 Q8TB40 AURKAIP1 Homo sapiens Q9NWT8
Y2H Prey Pooling
32296183
种属内
ABHD4 Q8TB40 AURKAIP1 Homo sapiens Q9NWT8
Validated Y2H
32296183
种属内
ABHD4 Q8TB40 AURKAIP1 Homo sapiens Q9NWT8
Y2H Array
32296183
种属内
ABHD4 Q8TB40 RABAC1 Homo sapiens Q9UI14
Validated Y2H
32296183
种属内
ABHD4 Q8TB40 PLIN3 Homo sapiens O60664
Y2H Array
32296183
种属内
ABHD4 Q8TB40 PLIN3 Homo sapiens O60664
Y2H Prey Pooling
32296183
种属内
ABHD4 Q8TB40 INSIG2 Homo sapiens Q9Y5U4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ABHD4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76133 ABHD4 Protein, Human (sf9, His) Q8TB40 (M1-D342) ≥95%

关联疾病

疾病名称 别名
Chanarin-Dorfman Syndrome

Neutral Lipid Storage Disease

CDS

Neutral Lipid Storage Disease With Ichthyosis

Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation

Triglyceride Storage Disease With Ichthyosis

Nlsdi

Ichthyotic Neutral Lipid Storage Disease

Dorfman-Chanarin Syndrome

Dcs

Chanarin-Dorfman Disease

Ichthyosiform Erythroderma With Leukocyte Vacuolation

Lipidosis With Triglyceride Storage Disease

Disorder Of Cornification 12

Dorfman Chanarin Syndrome

Neutral Lipid Storage Disease With Ichthyotic

Dorfman-Chanarin Disease

Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome

OMCS

Long Eyelashes-Intellectual Disability Syndrome

Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina

Eyelashes, Long, With Mental Retardation

Eyelashes Long Mental Retardation

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration

Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina

Eyelashes, Long With Intellectual Disability

Oliver Mcfarlane Syndrome

Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature

Trichomegaly, Retina Pigmentary Degeneration, Dwarfism

Trichomegaly Retina Pigmentary Degeneration Dwarfism

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 ABHD4 VGNC VGNC:37470
Bos taurus ABHD4 VGNC VGNC:25501
Mus musculus ABHD4 MGD MGI:1915938
Felis catus ABHD4 VGNC VGNC:80774
Rattus norvegicus ABHD4 RGD RGD:1311858
Macaca mulatta ABHD4 VGNC VGNC:84296
Others ABHD4 NCBI