1. Gene
  2. HACL1 - 2-hydroxyacyl-CoA lyase 1 Gene

HACL1 - 2-hydroxyacyl-CoA lyase 1 Gene

Homo sapiens

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

Gene ID: 26061 | Gene type: protein coding

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

HACL1 Protein Structure

TPP_enzyme_N

TPP_enzyme_N: Thiamine pyrophosphate enzyme, N-terminal TPP binding domain (15 - 180)

TPP_enzyme_M

TPP_enzyme_M: Thiamine pyrophosphate enzyme, central domain (205 - 332)

TPP_enzyme_C

TPP_enzyme_C: Thiamine pyrophosphate enzyme, C-terminal TPP binding domain (400 - 557)

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  • 578 a.a.
Protein Preferred Names Protein Names

2-hydroxyacyl-CoA lyase 1

1600020H07Rik

Related Diseases

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

Orthologs Information

Species Symbol Source 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