ABHD5 - abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Gene

中文名称：含脱氢酶结构域 5，溶血磷脂酸酰基转移酶

种属: Homo sapiens

同用名: CGI58; IECN2; NCIE2

基因 ID: 51099 | 基因类型: protein coding

关于 ABHD5

Cytogenetic location: 3p21.33 Genomic coordinates (GRCh38): 3:43,690,870-43,734,371 (from NCBI)

This gene has 16 transcripts (splice variants), 291 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in fat (RPKM 12.2), bone marrow (RPKM 10.6) and 25 other tissues.

功能概要

由该基因编码的蛋白质属于由 alpha/beta 水解酶折叠定义的一大类蛋白质，并且包含三个序列基序，对应于酯酶/脂肪酶/硫酯酶亚家族中发现的催化三联体。它不同于该亚科的其他成员，因为它假定的催化三联体含有天冬酰胺而不是丝氨酸残基。该基因的突变与 Chanarin-Dorfman 综合征有关，Chanarin-Dorfman 综合征是一种甘油三酯贮积病，长链脂肪酸氧化受损。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/Lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]

ABHD5 基因产物(4)

mRNA	Protein	Name
NM_001355186.2	NP_001342115.1	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a
NM_001365649.1	NP_001352578.1	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform b
NM_001365650.1	NP_001352579.1	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform c
NM_016006.6	NP_057090.2	1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a

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 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA IDA: 通过直接分析推断	18606822	GOA
enables lysophosphatidic acid acyltransferase activity	IDA IDA: 通过直接分析推断	18606822	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 negative regulation of sequestering of triglyceride	IDA IDA: 通过直接分析推断	16679289	GOA
involved in phosphatidic acid biosynthetic process	IDA IDA: 通过直接分析推断	18606822	GOA
involved in positive regulation of triglyceride catabolic process	IDA IDA: 通过直接分析推断	16679289	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in lipid droplet	IDA IDA: 通过直接分析推断	21498505	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

ABHD5 蛋白结构

Abhydrolase_6

0
100
200
300
349 a.a.

蛋白主名

其他名称

1-acylglycerol-3-phosphate O-acyltransferase ABHD5

abhydrolase domain-containing protein 5

ABHD5 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
Intra	ABHD5	Q8WTS1	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	DGAT2L6	Homo sapiens	Q6ZPD8	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	RNF24	Homo sapiens	Q9Y225-2	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	RNF24	Homo sapiens	Q9Y225-2	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	RNF24	Homo sapiens	Q9Y225-2	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	GET1	Homo sapiens	O00258	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	GET1	Homo sapiens	O00258	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	PLIN2	Homo sapiens	Q99541	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	RUSC1	Homo sapiens	Q9BVN2	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	PLIN3	Homo sapiens	O60664	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	PLIN3	Homo sapiens	O60664	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	MIEF1	Homo sapiens	Q9NQG6	Validated Y2H	32296183
Intra	ABHD5	Q8WTS1	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	ABHD5	Q8WTS1	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	ABHD5	Q8WTS1	TMEM14B	Homo sapiens	Q9NUH8	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

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

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Lipodystrophy, Familial Partial, Type 4

FPLD4	Plin1-Related Familial Partial Lipodystrophy
Familial Partial Lipodystrophy Type 4	Familial Partial Lipodystrophy Associated With Plin1 Mutations
Plin1-Related Fpld	Lipodystrophy, Familial Partial, Associated With Plin1 Mutations
Lipodystrophy, Familial Partial, 4

Ichthyosis, Congenital, Autosomal Recessive 2

Autosomal Recessive Congenital Ichthyosis 2	ARCI2
Ncie1	Ichthyosiform Erythroderma, Congenital
Collodion Baby, Self-Healing	Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly
Ncie1, Formerly	Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form	Nonbullous Congenital Ichthyosiform Erythroderma 1
Cie	Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form
Iecn1	Non-Bullous Congenital Ichthyosiform Erythroderma Type 1
Self-Healing Collodion Baby	Ichthyosis, Congenital, Autosomal Recessive, Type 2
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Myopathy

Muscular Diseases

Myopathies

Non-Alcoholic Fatty Liver Disease

Fatty Liver	Non-Alcoholic Fatty Liver
Nafld	Nonalcoholic Fatty Liver Disease
Nonalcoholic Steatohepatitis	Steatosis
Nafl	Nash
Non-Alcoholic Steatohepatitis	Susceptibility To Nonalcoholic Fatty Liver Disease
Steatohepatitis	Fatty Degeneration
Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis	Nafld Without Nash
Nafld Without Mention Of Nash

Lysosomal Acid Lipase Deficiency

Wolman Disease	Cholesteryl Ester Storage Disease
Lal Deficiency	Lipa Deficiency
Cholesterol Ester Storage Disease	CESD
Cholesterol Ester Hydrolase Deficiency	Acid Lipase Deficiency
Acid Esterase Deficiency	Familial Xanthomatosis
Wolman Xanthomatosis	Wolman'S Disease
Wolman'S Or Triglyceride Storage Type Iii Disease	Xanthomatosis, Familial
Liposomal Acid Lipase Deficiency, Wolman Type	Familial Visceral Xanthomatosis
Primary Familial Xanthomatosis	Primary Familial Xanthomatosis With Adrenal Calcification
Acid Lipase Disease	WOD
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Ectropion

Ectropion Of Eyelid	Everted Margin
Eversion Of The Eyelid	Eyelashes Turned Out
Eyelid Everted	Eyelid Turned Out
Unspecified Ectropion Of Unspecified Eye

Muscular Dystrophy, Congenital, Megaconial Type

Megaconial Type Congenital Muscular Dystrophy	Congenital Megaconial Myopathy
Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect	Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities
Megaconial Congenital Muscular Dystrophy	MDCMC
Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities	Megaconial Congénital Muscular Dystrophy
Dystrophy, Muscular, Congenital, Megaconial Type

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Lysosomal And Lipase Deficiency

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis	Autosomal Recessive Congenital Ichthyosis 4b
Hi	Harlequin Fetus
ARCI4B	Ichthyosis Congenita, Harlequin Fetus Type
Harlequin Type Ichthyosis	'Harlequin Fetus'
Harlequin Type Ichthyosis Congenita	Harlequin Type Ichthyosis Fetalis
Harlequin Baby Syndrome	Ichthyosis Congenita, Harlequin Type
Ichthyosis Fetalis, Harlequin Type	Ichthyosis Congenita Harlequin Fetus Type
Ichthyosis, Harlequin	Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Lipid Storage Disease

Lipoidosis	Inborn Lipid Storage Disorder
Lipoid Storage Diseas	Lipid Storage Diseases
Lipidoses

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00096	ABHD5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-111952	SR-4995		/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	ABHD5	VGNC	VGNC:25502
Mus musculus	ABHD5	MGD	MGI:1914719
Canis familiaris	ABHD5	VGNC	VGNC:37471
Rattus norvegicus	ABHD5	RGD	RGD:1303237
Felis catus	ABHD5	VGNC	VGNC:97337
Macaca mulatta	ABHD5	VGNC	VGNC:81174

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