HACL1 - 2-hydroxyacyl-CoA lyase 1 Gene

中文名称：2-羟酰辅酶 A 裂解酶 1

种属: Homo sapiens

同用名: HPCL; HPCL2; PHYH2; 2-HPCL

基因 ID: 26061 | 基因类型: protein coding

关于 HACL1

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:15,560,699-15,601,569 (from NCBI)

This gene has 13 transcripts (splice variants), 207 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 25.3), testis (RPKM 14.8) and 25 other tissues.

功能概要

启用多种功能，包括 2-hydroxy-3-methylhexadecanoyl-CoA 裂解酶活性； ATP 结合活性；和阳离子结合活性。参与脂肪酸α-氧化；植烷酸代谢过程；和靶向过氧化物酶体的蛋白质。位于核质和过氧化物酶体中。 [由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including 2-hydroxy-3-methylhexadecanoyl-CoA lyase activity; ATP binding activity; and cation binding activity. Involved in fatty acid alpha-oxidation; phytanic acid metabolic process; and protein targeting to peroxisome. Located in nucleoplasm and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]

HACL1 基因产物(4)

mRNA	Protein	Name
NM_001284413.2	NP_001271342.1	2-hydroxyacyl-CoA lyase 1 isoform b
NM_001284415.2	NP_001271344.1	2-hydroxyacyl-CoA lyase 1 isoform c
NM_001284416.2	NP_001271345.1	2-hydroxyacyl-CoA lyase 1 isoform d
NM_012260.4	NP_036392.2	2-hydroxyacyl-CoA lyase 1 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 2-hydroxyacyl-CoA lyase activity	IMP IMP: 通过突变表型推断	21708296	GOA
enables ATP binding	IDA IDA: 通过直接分析推断	15644336	GOA
enables carbon-carbon lyase activity	IDA IDA: 通过直接分析推断	10468558	GOA
enables carbon-carbon lyase activity	IMP IMP: 通过突变表型推断	28289220	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables magnesium ion binding	IDA IDA: 通过直接分析推断	15644336	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables thiamine pyrophosphate binding	IDA IDA: 通过直接分析推断	10468558	GOA
enables thiamine pyrophosphate binding	IMP IMP: 通过突变表型推断	21708296	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in fatty acid alpha-oxidation	IDA IDA: 通过直接分析推断	10468558	GOA
involved in fatty acid metabolic process	IDA IDA: 通过直接分析推断	28289220	GOA
involved in methyl-branched fatty acid metabolic process	IDA IDA: 通过直接分析推断	21708296	GOA
involved in phytanic acid metabolic process	IDA IDA: 通过直接分析推断	28289220	GOA
involved in protein targeting to peroxisome	IMP IMP: 通过突变表型推断	10468558	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in peroxisome	IDA IDA: 通过直接分析推断	10468558	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

HACL1 蛋白结构

TPP_enzyme_N

TPP_enzyme_M

TPP_enzyme_C

0
100
200
300
400
500
578 a.a.

蛋白主名

其他名称

2-hydroxyacyl-CoA lyase 1

1600020H07Rik

HACL1 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	HACL1	Q9UJ83	MAGEB6	Homo sapiens	Q8N7X4	Validated Y2H	25416956
种属内	HACL1	Q9UJ83	MAGEB6	Homo sapiens	Q8N7X4	Y2H Prey Pooling	25416956
种属内	HACL1	Q9UJ83	MAGEB6	Homo sapiens	Q8N7X4	Y2H Array	25416956
种属内	HACL1	Q9UJ83	SMARCB1	Homo sapiens	Q12824	Y2H Pooling	27229929
种属内	HACL1	Q9UJ83	HACL1	Homo sapiens	Q9UJ83	Pull Down	16189514
种属内	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Validated Y2H	25416956
种属内	HACL1	Q9UJ83	PLXDC2	Homo sapiens	Q6UX71	Anti Tag CoIP	33961781
种属内	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Y2H Array	25416956
种属内	HACL1	Q9UJ83	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
种属内	HACL1	Q9UJ83	RNA15	Saccharomyces cerevisiae	P25299	Y2H Array	27107014
种属内	HACL1	Q9UJ83	HACL1	Homo sapiens	Q9UJ83	Y2H Array	25416956
种属内	HACL1	Q9UJ83	PLXDC2	Homo sapiens	Q6UX71	Anti Tag CoIP	28514442
种属内	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Y2H Prey Pooling	25416956
种属内	HACL1	Q9UJ83	RNA15	Saccharomyces cerevisiae	P25299	Validated Y2H	27107014
种属内	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Y2H Pooling	16189514
种属内	HACL1	Q9UJ83	ASPSCR1	Homo sapiens	Q9BZE9-2	Anti Tag CoIP	28514442
种属内	HACL1	Q9UJ83	HACL1	Homo sapiens	Q9UJ83	Y2H Pooling	16189514
种属内	HACL1	Q9UJ83	ASPSCR1	Homo sapiens	Q9BZE9	Anti Tag CoIP	33961781

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

Conjugate Gaze Palsy

Palsy Of Conjugate Gaze	Supranuclear Ocular Palsy
Gaze Palsy

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Wet Beriberi

Dry Beriberi

Beriberi

Thiamine Deficiency	Vitamin B1 Deficiency
Aneurin Deficiency	Thiamine Vitamin Deficiency
Beriberi Nos	Beriberi Due To Vitamin B1 Deficiency
Beriberi Due To Thiamine Vitamin Deficiency	Kakkè

Wernicke-Korsakoff Syndrome

Korsakoff Syndrome	Transketolase Defect
Korsakoff'S Syndrome	Alcohol-Induced Encephalopathy
Korsakoff'S Psychosis	Korsakov Psychosis
Korsakov'S Psychosis	Alcohol Induced Encephalopathy
Korsakoff Disease	Korsakoff Psychosis

Sjogren-Larsson Syndrome

Sjögren-Larsson Syndrome	SLS
Faldh Deficiency	Fatty Aldehyde Dehydrogenase Deficiency
Fatty Acid Alcohol Oxidoreductase Deficiency	Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
Sjogren Larsson Syndrome	Fatty Alcohol:Nad+ Oxidoreductase Deficiency
Sjogren-Larsson'S Syndrome	Fadh Deficiency
Fao Deficiency	Congenital Icthyosis Mental Retardation Spasticity Syndrome
Ichthyosis Oligophrenia Syndrome	Sjoegren-Larsson Syndrome

Thiamine Deficiency Disease

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

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-RS05988	HACL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22547	Hacl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	HACL1	VGNC	VGNC:62749
Bos taurus	HACL1	VGNC	VGNC:29740
Mus musculus	HACL1	MGD	MGI:1929657
Rattus norvegicus	HACL1	RGD	RGD:619849
Macaca mulatta	HACL1	VGNC	VGNC:73187

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