2. Gene
  3. ABHD6 - abhydrolase domain containing 6, acylglycerol lipase Gene

ABHD6 - abhydrolase domain containing 6, acylglycerol lipase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含脱氢酶结构域 6, 酰基甘油脂肪酶

种属: Homo sapiens

基因 ID: 57406 | 基因类型: protein coding

关于 ABHD6

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,237,792-58,294,734 (from NCBI)

This gene has 7 transcripts (splice variants), 235 orthologues and 12 paralogues. Broad expression in small intestine (RPKM 23.4), spleen (RPKM 18.6) and 22 other tissues.

功能概要

启用酰基甘油脂肪酶活性。参与酰基甘油分解代谢过程。预测位于晚期内体膜和溶酶体膜。预计是膜的组成部分。预计是 AMPA 谷氨酸受体复合物的一部分。预计在 GABA 能突触中活跃；谷氨酸能突触；和线粒体。预计是突触后膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables acylglycerol Lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and mitochondrion. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]

ABHD6 基因产物(2)

mRNA Protein Name
NM_001320126.2 NP_001307055.1 monoacylglycerol lipase ABHD6
NM_020676.7 NP_065727.4 monoacylglycerol lipase ABHD6
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables monoacylglycerol lipase activity IDA
IDA: 通过直接分析推断
22969151 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acylglycerol catabolic process IDA
IDA: 通过直接分析推断
22969151 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

ABHD6 蛋白结构

Abhydrolase_6

Abhydrolase_6: Alpha/beta hydrolase family (74 - 318)

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

monoacylglycerol lipase ABHD6

2-arachidonoylglycerol hydrolase

ABHD6 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
ABHD6 Q9BV23 TVP23B Homo sapiens Q9NYZ1
Validated Y2H
32296183
种属内
ABHD6 Q9BV23 FIS1 Homo sapiens Q9Y3D6
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome

PHARC

Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Peripheral Neuropathy, Fiskerstrand Type

Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
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
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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

相关产品

Pre-clinical Phase
生物活性分子 (25)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-100337 WWL70 Inhibitor 99.95% 否
HY-110148 WWL113 Inhibitor 99.08% 否
HY-101457 JZP-430 Inhibitor 99.74% 否
HY-120177 KT182 Inhibitor 99.93% 否
HY-120215 KT203 Inhibitor 99.86% 否
HY-136924 FP-Biotin 99.84% 否
HY-114926 KT185 Inhibitor 99.30% 否
HY-125143 ABC34 Inhibitor 99.90% 否
HY-132310 MAGL-IN-4 Inhibitor 99.91% 否
HY-132246 WWL123 analogue-1 Inhibitor 98.04% 否
HY-121422 JZP-361 Inhibitor 99.72% 否
HY-152148 JZP-MA-11 Inhibitor 99.26% 否
HY-18544 AA38-3 Inhibitor 99.89% 否
HY-103463 SA57 Inhibitor ≥99.0% 否
HY-110178 WWL123 Inhibitor ≥98.0% 否
HY-116793 Dimepiperate / 否
HY-117722 JW 618 Inhibitor / 否
HY-120171 DH-376 Inhibitor / 否
HY-124314 LEI-106 Inhibitor / 否
HY-152152 JZP-MA-13 Inhibitor / 否
HY-158338 ABHD antagonist 1 Antagonist / 否
HY-158339 ABHD antagonist 2 Antagonist / 否
HY-RS00097 ABHD6 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-126031 (R)-KT109 / 否
HY-126031A (S)-KT109 / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ABHD6 VGNC VGNC:59486
Macaca mulatta ABHD6 VGNC VGNC:69492
Bos taurus ABHD6 VGNC VGNC:25503
Rattus norvegicus ABHD6 RGD RGD:1359323
Canis familiaris ABHD6 VGNC VGNC:37472
Mus musculus ABHD6 MGD MGI:1913332
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