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HACL1 2-hydroxyacyl-CoA lyase 1 [ Homo sapiens (human) ]

Gene ID: 26061, updated on 7-Feb-2016
Official Symbol
HACL1provided by HGNC
Official Full Name
2-hydroxyacyl-CoA lyase 1provided by HGNC
Primary source
HGNC:HGNC:17856
See related
Ensembl:ENSG00000131373; HPRD:09183; MIM:604300; Vega:OTTHUMG00000129862
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPCL; HPCL2; PHYH2; 2-HPCL
Orthologs
See HACL1 in Epigenomics, MapViewer
Location:
3p25.1
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (15560704..15601852, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15602239..15643359, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase Neighboring gene uncharacterized LOC105376964 Neighboring gene microRNA 4270 Neighboring gene biotinidase Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134 Neighboring gene RNA, 7SL, cytoplasmic 4, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Alpha-oxidation of phytanate, organism-specific biosystem (from REACTOME)
    Alpha-oxidation of phytanate, organism-specific biosystemPhytanic acid arises through ruminant metabolism of chlorophyll and enters the human diet as a constituent of dairy products (Baxter 1968). It can act as an agonist for PPAR and other nuclear hormone...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
    Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • fatty acid alpha-oxidation, organism-specific biosystem (from BIOCYC)
    fatty acid alpha-oxidation, organism-specific biosystemGeneral Background The major pathway for fatty acid degradation in organisms ranging from bacteria to humans is fatty acid beta-oxidation. However, pathways for fatty acid alpha-oxidation and &omega...
  • fatty acid alpha-oxidation II, conserved biosystem (from BIOCYC)
    fatty acid alpha-oxidation II, conserved biosystemGeneral Background The major pathway for fatty acid degradation in organisms ranging from bacteria to humans is fatty acid beta-oxidation. However, pathways for fatty acid alpha-oxidation and &omega...
  • fatty acid alpha-oxidation III, organism-specific biosystem (from BIOCYC)
    fatty acid alpha-oxidation III, organism-specific biosystemGeneral Background The major pathway for fatty acid degradation in organisms ranging from bacteria to humans is fatty acid beta-oxidation. However, pathways for fatty acid alpha-oxidation and &omega...
  • fatty acid alpha-oxidation III, conserved biosystem (from BIOCYC)
    fatty acid alpha-oxidation III, conserved biosystemGeneral Background The major pathway for fatty acid degradation in organisms ranging from bacteria to humans is fatty acid beta-oxidation. However, pathways for fatty acid alpha-oxidation and &omega...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: COLQ

Homology

Clone Names

  • FLJ55041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbon-carbon lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
carbon-carbon lyase activity TAS
Traceable Author Statement
more info
 
cofactor binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiamine pyrophosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
fatty acid alpha-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid alpha-oxidation TAS
Traceable Author Statement
more info
 
protein oligomerization IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
2-hydroxyacyl-CoA lyase 1
Names
1600020H07Rik
2-hydroxyphytanol-CoA lyase
2-hydroxyphytanoyl-CoA lyase
phytanoyl-CoA 2-hydroxylase 2
phytanoyl-CoA hydroxylase 2
NP_001271342.1
NP_001271344.1
NP_001271345.1
NP_036392.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001284413.1NP_001271342.1  2-hydroxyacyl-CoA lyase 1 isoform b

    See identical proteins and their annotated locations for NP_001271342.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AA643224, AK301546, DA609383, DB241165
    Consensus CDS
    CCDS68360.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000390699, OTTHUMP00000209186, ENST00000456194, OTTHUMT00000343008
    Conserved Domains (4) summary
    cd07035
    Location:19145
    TPP_PYR_POX_like; Pyrimidine (PYR) binding domain of POX and related proteins
    PRK09259
    Location:7536
    PRK09259; putative oxalyl-CoA decarboxylase; Validated
    cd02004
    Location:350533
    TPP_BZL_OCoD_HPCL; Thiamine pyrophosphate (TPP) family, BZL_OCoD_HPCL subfamily, TPP-binding module; composed of proteins similar to benzaldehyde lyase (BZL), oxalyl-CoA decarboxylase (OCoD) and 2-hydroxyphytanoyl-CoA lyase (2-HPCL). Pseudomonas fluorescens biovar I BZL ...
    pfam00205
    Location:179305
    TPP_enzyme_M; Thiamine pyrophosphate enzyme, central domain
  2. NM_001284415.1NP_001271344.1  2-hydroxyacyl-CoA lyase 1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AA643224, AJ131753, AK302086, BC001627, DA609383, DB241165
    Consensus CDS
    CCDS68362.1
    UniProtKB/TrEMBL
    B4DXR1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000404883, OTTHUMP00000209188, ENST00000457447, OTTHUMT00000343010
    Conserved Domains (4) summary
    cd07035
    Location:19146
    TPP_PYR_POX_like; Pyrimidine (PYR) binding domain of POX and related proteins
    PRK09259
    Location:7503
    PRK09259; putative oxalyl-CoA decarboxylase; Validated
    cd02004
    Location:317500
    TPP_BZL_OCoD_HPCL; Thiamine pyrophosphate (TPP) family, BZL_OCoD_HPCL subfamily, TPP-binding module; composed of proteins similar to benzaldehyde lyase (BZL), oxalyl-CoA decarboxylase (OCoD) and 2-hydroxyphytanoyl-CoA lyase (2-HPCL). Pseudomonas fluorescens biovar I BZL ...
    pfam00205
    Location:180305
    TPP_enzyme_M; Thiamine pyrophosphate enzyme, central domain
  3. NM_001284416.1NP_001271345.1  2-hydroxyacyl-CoA lyase 1 isoform d

    See identical proteins and their annotated locations for NP_001271345.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three alternate exons that result in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AA643224, AK301990, DA609383, DB241165
    Consensus CDS
    CCDS68361.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000403656, OTTHUMP00000209133, ENST00000451445, OTTHUMT00000342872
    Conserved Domains (4) summary
    cd07035
    Location:19103
    TPP_PYR_POX_like; Pyrimidine (PYR) binding domain of POX and related proteins
    PRK09259
    Location:7481
    PRK09259; putative oxalyl-CoA decarboxylase; Validated
    cd02004
    Location:295478
    TPP_BZL_OCoD_HPCL; Thiamine pyrophosphate (TPP) family, BZL_OCoD_HPCL subfamily, TPP-binding module; composed of proteins similar to benzaldehyde lyase (BZL), oxalyl-CoA decarboxylase (OCoD) and 2-hydroxyphytanoyl-CoA lyase (2-HPCL). Pseudomonas fluorescens biovar I BZL ...
    pfam00205
    Location:124250
    TPP_enzyme_M; Thiamine pyrophosphate enzyme, central domain
  4. NM_012260.3NP_036392.2  2-hydroxyacyl-CoA lyase 1 isoform a

    See identical proteins and their annotated locations for NP_036392.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AA643224, AJ131753, BC001627, DA609383, DB241165
    Consensus CDS
    CCDS2627.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000323811, OTTHUMP00000160301, ENST00000321169, OTTHUMT00000252104
    Conserved Domains (4) summary
    cd07035
    Location:19172
    TPP_PYR_POX_like; Pyrimidine (PYR) binding domain of POX and related proteins
    PRK09259
    Location:7563
    PRK09259; putative oxalyl-CoA decarboxylase; Validated
    cd02004
    Location:377560
    TPP_BZL_OCoD_HPCL; Thiamine pyrophosphate (TPP) family, BZL_OCoD_HPCL subfamily, TPP-binding module; composed of proteins similar to benzaldehyde lyase (BZL), oxalyl-CoA decarboxylase (OCoD) and 2-hydroxyphytanoyl-CoA lyase (2-HPCL). Pseudomonas fluorescens biovar I BZL ...
    pfam00205
    Location:206332
    TPP_enzyme_M; Thiamine pyrophosphate enzyme, central domain

RNA

  1. NR_104315.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons in the central region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA643224, BC001627, BC007440, DA609383, DB241165
    Related
    ENST00000383779, OTTHUMT00000343009

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    15560704..15601852 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    15553023..15594033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)