HACD1 - 3-hydroxyacyl-CoA dehydratase 1 Gene

中文名称：3-羟酰辅酶 A 脱水酶 1

种属: Homo sapiens

同用名: CAP; MYONP; PTPLA

基因 ID: 9200 | 基因类型: protein coding

关于 HACD1

Cytogenetic location: 10p12.33 Genomic coordinates (GRCh38): 10:17,589,032-17,617,374 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 20.1), prostate (RPKM 5.4) and 14 other tissues.

功能概要

该基因编码的蛋白质包含蛋白质酪氨酸磷酸酶 (PTP) 家族的特征催化基序。该蛋白的 PTP 基序具有被脯氨酸残基取代的高度保守的精氨酸残基；因此它可能代表一类不同的 PTP。众所周知，PTP 家族的成员是调节各种细胞过程的信号分子。该基因优先在成人和胎儿心脏中表达。在骨骼肌和平滑肌组织中检测到低得多的表达水平，在其他组织中未观察到表达。发育中和成年心脏中的组织特异性表达表明其在调节心脏发育和分化中的作用。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene contains a characteristic catalytic motif of the Protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in Other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]

HACD1 基因产物(1)

mRNA	Protein	Name
NM_014241.4	NP_055056.3	very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

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 3-hydroxyacyl-CoA dehydratase activity	EXP EXP: 通过实验结果推断	18554506	GOA
enables enzyme binding	IDA IDA: 通过直接分析推断	18554506	GOA
enables hydroxyapatite binding	IDA IDA: 通过直接分析推断	22067203	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity	IDA IDA: 通过直接分析推断	18554506	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cementum mineralization	IDA IDA: 通过直接分析推断	25263524	GOA
involved in fatty acid elongation	IDA IDA: 通过直接分析推断	18554506	GOA
involved in positive regulation of cell-substrate adhesion	IDA IDA: 通过直接分析推断	22067203	GOA
involved in protein-containing complex assembly	IDA IDA: 通过直接分析推断	25263524	GOA
involved in sphingolipid biosynthetic process	IGI IGI: 通过遗传相互作用推断	18554506	GOA
involved in very long-chain fatty acid biosynthetic process	IDA IDA: 通过直接分析推断	18554506	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	18554506	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

HACD1 蛋白结构

PTPLA

0
100
200
288 a.a.

蛋白主名

其他名称

very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1

cementum attachment protein

HACD1 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	HACD1	B0YJ81	IL10RA	Homo sapiens	Q13651	Y2H Prey Pooling	32296183
种属内	HACD1	B0YJ81	IL10RA	Homo sapiens	Q13651	Validated Y2H	32296183
种属内	HACD1	B0YJ81	IL10RA	Homo sapiens	Q13651	Y2H Array	32296183
种属内	HACD1	B0YJ81	RNF170	Homo sapiens	Q96K19-5	Y2H Prey Pooling	32296183
种属内	HACD1	B0YJ81	RNF170	Homo sapiens	Q96K19-5	Validated Y2H	32296183
种属内	HACD1	B0YJ81	RNF170	Homo sapiens	Q96K19-5	Y2H Array	32296183
种属内	HACD1	B0YJ81	CPLX4	Homo sapiens	Q7Z7G2	Y2H Prey Pooling	32296183
种属内	HACD1	B0YJ81	CPLX4	Homo sapiens	Q7Z7G2	Validated Y2H	32296183
种属内	HACD1	B0YJ81	CPLX4	Homo sapiens	Q7Z7G2	Y2H Array	32296183
种属内	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Validated Y2H	32296183
种属内	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Y2H Array	32296183
种属内	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Y2H Prey Pooling	32296183
种属内	HACD1	B0YJ81	TMEM106C	Homo sapiens	Q9BVX2	Complementation	32296183
种属内	HACD1	B0YJ81	TECR	Homo sapiens	Q9NZ01	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

Myopathy, Congenital, Nonprogressive

MYONP

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion	Cftdm
Congenital Myopathy With Fiber Type Disproportion	Cftd
Congenital Fiber-Type Disproportion Myopathy	Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Congenital With Fiber-Type Disproportion

Warburg Micro Syndrome 1

Warburg Micro Syndrome	Micro Syndrome
Warbm	WARBM1
Warburg Sjo Fledelius Syndrome	Warburg-Sjo-Fledelius Syndrome
Micro Syndrome 1	Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Myopathy, Congenital, With Fiber-Type Disproportion

CFTD	Fiber-Type Disproportion Myopathy, Congenital
Cftdm	Myopathy, Congenital, With Fiber-Type Disproportion 1
Congenital Fiber-Type Disproportion Myopathy	Myopathy, Congenital, With Fiber Type Disproportion

Balantidiasis

Balantidiosis	Human Balantidiasis
B Coli Infection	Balantidium Coli Infection
Large-Intestinal Infection With Balantidium Coli	Ciliary Dysentery

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Myopathy

Muscular Diseases

Myopathies

Nemaline Myopathy 10

NEM10

Myopathy, Nemaline, Type 10

Warburg Micro Syndrome 3

WARBM3

Micro Syndrome 3

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Warburg Micro Syndrome 2

WARBM2

Micro Syndrome 2

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

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-RS05984	HACD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	HACD1	VGNC	VGNC:73381
Felis catus	HACD1	VGNC	VGNC:84029
Rattus norvegicus	HACD1	RGD	RGD:1595507
Canis familiaris	HACD1	VGNC	VGNC:52135
Mus musculus	HACD1	MGD	MGI:1353592
Bos taurus	HACD1	VGNC	VGNC:29737

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