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

Gene ID: 26061, updated on 24-Nov-2020

Summary

Official Symbol
HACL1provided by HGNC
Official Full Name
2-hydroxyacyl-CoA lyase 1provided by HGNC
Primary source
HGNC:HGNC:17856
See related
Ensembl:ENSG00000131373 MIM:604300
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
Expression
Ubiquitous expression in duodenum (RPKM 25.3), testis (RPKM 14.8) and 25 other tissues See more
Orthologs

Genomic context

See HACL1 in Genome Data Viewer
Location:
3p25.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (15560699..15601569, 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 of asymmetric acetylcholinesterase Neighboring gene uncharacterized LOC105376964 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene biotinidase Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134 Neighboring gene RNA, 7SL, cytoplasmic 4, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: COLQ

Homology

Clone Names

  • FLJ55041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
carbon-carbon lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
carbon-carbon lyase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiamine pyrophosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiamine pyrophosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
fatty acid alpha-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid alpha-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid alpha-oxidation TAS
Traceable Author Statement
more info
 
fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
methyl-branched fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phytanic acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to peroxisome IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001284413.2NP_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, AC027129, AK301546, DA609383
    Consensus CDS
    CCDS68360.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000390699.2, ENST00000456194.6
    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_001284415.2NP_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, AC027129, AJ131753, AK302086, BC001627, DA609383
    Consensus CDS
    CCDS68362.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    UniProtKB/TrEMBL
    B4DXR1
    Related
    ENSP00000404883.2, ENST00000457447.6
    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_001284416.2NP_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, AC027129, AK301990, DA609383
    Consensus CDS
    CCDS68361.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000403656.2, ENST00000451445.6
    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_012260.4NP_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, AC027129, AJ131753, BC001627, DA609383
    Consensus CDS
    CCDS2627.1
    UniProtKB/Swiss-Prot
    Q9UJ83
    Related
    ENSP00000323811.5, ENST00000321169.10
    Conserved Domains (1) summary
    cl28198
    Location:7563
    IlvB; Acetolactate synthase large subunit or other thiamine pyrophosphate-requiring enzyme [Amino acid transport and metabolism, Coenzyme transport and metabolism]

RNA

  1. NR_104315.2 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, AC027129, BC001627, BC007440, DA609383
    Related
    ENST00000383779.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    15560699..15601569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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