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HACL1 - 2-hydroxyacyl-CoA lyase 1 Gene

Also Known as HPCL; HPCL2; PHYH2; 2-HPCL

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 26061

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables 2-hydroxyacyl-CoA lyase activity	IMP IMP: Inferred from mutant phenotype	21708296	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	15644336	GOA
enables carbon-carbon lyase activity	IDA IDA: Inferred from direct assay	10468558	GOA
enables carbon-carbon lyase activity	IMP IMP: Inferred from mutant phenotype	28289220	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	15644336	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables thiamine pyrophosphate binding	IDA IDA: Inferred from direct assay	10468558	GOA
enables thiamine pyrophosphate binding	IMP IMP: Inferred from mutant phenotype	21708296	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in fatty acid alpha-oxidation	IDA IDA: Inferred from direct assay	10468558	GOA
involved in fatty acid metabolic process	IDA IDA: Inferred from direct assay	28289220	GOA
involved in methyl-branched fatty acid metabolic process	IDA IDA: Inferred from direct assay	21708296	GOA
involved in phytanic acid metabolic process	IDA IDA: Inferred from direct assay	28289220	GOA
involved in protein targeting to peroxisome	IMP IMP: Inferred from mutant phenotype	10468558	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in peroxisome	IDA IDA: Inferred from direct assay	10468558	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HACL1 Protein Structure

TPP_enzyme_N

TPP_enzyme_M

TPP_enzyme_C

0
100
200
300
400
500
578 a.a.

Protein Preferred Names	Protein Names
2-hydroxyacyl-CoA lyase 1	1600020H07Rik

HACL1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	HACL1	Q9UJ83	MAGEB6	Homo sapiens	Q8N7X4	Validated Y2H	25416956
Intra	HACL1	Q9UJ83	MAGEB6	Homo sapiens	Q8N7X4	Y2H Prey Pooling	25416956
Intra	HACL1	Q9UJ83	MAGEB6	Homo sapiens	Q8N7X4	Y2H Array	25416956
Intra	HACL1	Q9UJ83	SMARCB1	Homo sapiens	Q12824	Y2H Pooling	27229929
Intra	HACL1	Q9UJ83	HACL1	Homo sapiens	Q9UJ83	Pull Down	16189514
Intra	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Validated Y2H	25416956
Intra	HACL1	Q9UJ83	PLXDC2	Homo sapiens	Q6UX71	Anti Tag CoIP	33961781
Intra	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Y2H Array	25416956
Intra	HACL1	Q9UJ83	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	HACL1	Q9UJ83	RNA15	Saccharomyces cerevisiae	P25299	Y2H Array	27107014
Intra	HACL1	Q9UJ83	HACL1	Homo sapiens	Q9UJ83	Y2H Array	25416956
Intra	HACL1	Q9UJ83	PLXDC2	Homo sapiens	Q6UX71	Anti Tag CoIP	28514442
Intra	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Y2H Prey Pooling	25416956
Intra	HACL1	Q9UJ83	RNA15	Saccharomyces cerevisiae	P25299	Validated Y2H	27107014
Intra	HACL1	Q9UJ83	ZMYND19	Homo sapiens	Q96E35	Y2H Pooling	16189514
Intra	HACL1	Q9UJ83	ASPSCR1	Homo sapiens	Q9BZE9-2	Anti Tag CoIP	28514442
Intra	HACL1	Q9UJ83	HACL1	Homo sapiens	Q9UJ83	Y2H Pooling	16189514
Intra	HACL1	Q9UJ83	ASPSCR1	Homo sapiens	Q9BZE9	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS05988	HACL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22547	Hacl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29067	Hacl1 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	HACL1	NCBI