Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HACL1 Gene

Aliases for HACL1 Gene

  • 2-Hydroxyacyl-CoA Lyase 1 2 3
  • 2-Hydroxyphytanoyl-CoA Lyase 2 3 4
  • Phytanoyl-CoA 2-Hydroxylase 2 3 4
  • 2-HPCL 3 4
  • HPCl2 3 4
  • PHYH2 3 4
  • HPCL 3 4
  • 2-Hydroxyphytanol-CoA Lyase 3
  • Phytanoyl-CoA Hydroxylase 2 3
  • 1600020H07Rik 3
  • EC 4.1.-.- 4

External Ids for HACL1 Gene

Previous HGNC Symbols for HACL1 Gene

  • HPCL

Previous GeneCards Identifiers for HACL1 Gene

  • GC03M015579
  • GC03M015538

Summaries for HACL1 Gene

GeneCards Summary for HACL1 Gene

HACL1 (2-Hydroxyacyl-CoA Lyase 1) is a Protein Coding gene. Diseases associated with HACL1 include refsum disease. Among its related pathways are Metabolism and Peroxisomal lipid metabolism. GO annotations related to this gene include identical protein binding and magnesium ion binding. An important paralog of this gene is ILVBL.

UniProtKB/Swiss-Prot for HACL1 Gene

  • Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HACL1 Gene

Genomics for HACL1 Gene

Regulatory Elements for HACL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HACL1 Gene

Chromosome:
3
Start:
15,560,704 bp from pter
End:
15,601,852 bp from pter
Size:
41,149 bases
Orientation:
Minus strand

Genomic View for HACL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HACL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HACL1 Gene

Proteins for HACL1 Gene

  • Protein details for HACL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ83-HACL1_HUMAN
    Recommended name:
    2-hydroxyacyl-CoA lyase 1
    Protein Accession:
    Q9UJ83
    Secondary Accessions:
    • B4DWI1
    • B4DXI5
    • E9PEN4
    • Q9BV42
    • Q9P0A2

    Protein attributes for HACL1 Gene

    Size:
    578 amino acids
    Molecular mass:
    63729 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Note=Binds 1 thiamine pyrophosphate per subunit.;
    Quaternary structure:
    • Homotetramer
    SequenceCaution:
    • Sequence=AAF28957.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for HACL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HACL1 Gene

Proteomics data for HACL1 Gene at MOPED

Post-translational modifications for HACL1 Gene

  • Ubiquitination at Lys 540
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HACL1 Gene

Domains & Families for HACL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJ83

UniProtKB/Swiss-Prot:

HACL1_HUMAN :
  • Belongs to the TPP enzyme family.
Family:
  • Belongs to the TPP enzyme family.
genes like me logo Genes that share domains with HACL1: view

No data available for Gene Families for HACL1 Gene

Function for HACL1 Gene

Molecular function for HACL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2-hydroxyphytanoyl-CoA = pristanal + formyl-CoA
UniProtKB/Swiss-Prot Function:
Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a 2-methyl-branched fatty aldehyde

Enzyme Numbers (IUBMB) for HACL1 Gene

Gene Ontology (GO) - Molecular Function for HACL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0003824 catalytic activity --
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 16189514
GO:0016829 lyase activity --
genes like me logo Genes that share ontologies with HACL1: view

Phenotypes for HACL1 Gene

genes like me logo Genes that share phenotypes with HACL1: view

Animal Model Products

miRNA for HACL1 Gene

miRTarBase miRNAs that target HACL1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HACL1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HACL1 Gene

Localization for HACL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HACL1 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HACL1 Gene COMPARTMENTS Subcellular localization image for HACL1 gene
Compartment Confidence
peroxisome 5

Gene Ontology (GO) - Cellular Components for HACL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 10468558
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with HACL1: view

Pathways & Interactions for HACL1 Gene

genes like me logo Genes that share pathways with HACL1: view

Pathways by source for HACL1 Gene

UniProtKB/Swiss-Prot Q9UJ83-HACL1_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism

Gene Ontology (GO) - Biological Process for HACL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation TAS --
GO:0006629 lipid metabolic process --
GO:0008152 metabolic process --
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HACL1: view

No data available for SIGNOR curated interactions for HACL1 Gene

Drugs & Compounds for HACL1 Gene

(3) Drugs for HACL1 Gene - From: HMDB and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thiamine Approved Nutra 82,82
thiamin diphosphate Experimental Pharma 0
Magnesium Nutra 0

(5) Additional Compounds for HACL1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-hydroxyphytanoyl-CoA
  • (3S)-2-hydroxyphytanoyl-CoA
  • (3S)-2-hydroxyphytanoyl-Coenzyme A
  • (3S,7R,11R)-2-hydroxy-3,7,11,15-tetramethylhexadecanoyl-CoA
  • (3S,7R,11R)-2-hydroxy-3,7,11,15-tetramethylhexadecanoyl-Coenzyme A
  • 2-Hydroxyphytanoyl-CoA
172787-73-4
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
Pristanal
  • (2R)-pristanal
  • (2R,6R,10R)-2,6,10,14-tetramethylpentadecanal
  • (2S)-pristanal
  • (2S,6R,10R)-2,6,10,14-tetramethylpentadecanal
  • 2(R)-Pristanal
105373-75-9
formate
Phytanic acid
  • 3,7,11,15-Tetramethyl-hexadecanoate
  • 3,7,11,15-Tetramethyl-hexadecanoic acid
  • 3,7,11,15-Tetramethyl-hexadecansaeure
  • 3,7,11,15-Tetramethylhexadecanoate
  • 3,7,11,15-Tetramethylhexadecanoic acid
14721-66-5
genes like me logo Genes that share compounds with HACL1: view

Transcripts for HACL1 Gene

Unigene Clusters for HACL1 Gene

2-hydroxyacyl-CoA lyase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HACL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HACL1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - -
SP8: - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - -
SP12: - - -
SP13: - - - - -
SP14: - - - - - - - - - -
SP15: - - -
SP16: -
SP17: - - -
SP18:
SP19: - -
SP20:

ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for HACL1 Gene

GeneLoc Exon Structure for
HACL1
ECgene alternative splicing isoforms for
HACL1

Expression for HACL1 Gene

mRNA expression in normal human tissues for HACL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HACL1 Gene

This gene is overexpressed in Testis (32.0), Liver (16.0), and Gallbladder (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HACL1 Gene



SOURCE GeneReport for Unigene cluster for HACL1 Gene Hs.63290

mRNA Expression by UniProt/SwissProt for HACL1 Gene

Q9UJ83-HACL1_HUMAN
Tissue specificity: Expressed in high levels in liver, also expressed in kidney, heart and skeletal muscle.
genes like me logo Genes that share expression patterns with HACL1: view

Protein tissue co-expression partners for HACL1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for HACL1 Gene

Orthologs for HACL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HACL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HACL1 35
  • 89.27 (n)
  • 89.27 (a)
HACL1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HACL1 35
  • 89.68 (n)
  • 88.93 (a)
HACL1 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hacl1 35
  • 85.7 (n)
  • 87.89 (a)
Hacl1 16
Hacl1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HACL1 35
  • 99.65 (n)
  • 99.48 (a)
HACL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hacl1 35
  • 85.58 (n)
  • 85.99 (a)
oppossum
(Monodelphis domestica)
Mammalia HACL1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves HACL1 35
  • 73.66 (n)
  • 73.72 (a)
HACL1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HACL1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hacl1 35
  • 69.95 (n)
  • 71.35 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19375 35
zebrafish
(Danio rerio)
Actinopterygii hacl1 35
  • 65.49 (n)
  • 65.43 (a)
wufd42e11 35
hacl1 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010368 35
  • 54.65 (n)
  • 54.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11208 35
  • 55.18 (n)
  • 53.36 (a)
CG11208 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_B0334.3 35
  • 54.55 (n)
  • 49.2 (a)
B0334.3 36
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL055C 35
  • 48.61 (n)
  • 38.26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YEL020C 35
  • 50.37 (n)
  • 41.98 (a)
-- 36
  • 39 (a)
OneToMany
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G17380 35
  • 50.27 (n)
  • 43.38 (a)
rice
(Oryza sativa)
Liliopsida Os.15077 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11401 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC725.04 35
  • 51.75 (n)
  • 46.01 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for HACL1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HACL1 Gene

ENSEMBL:
Gene Tree for HACL1 (if available)
TreeFam:
Gene Tree for HACL1 (if available)

Paralogs for HACL1 Gene

Paralogs for HACL1 Gene

(2) SIMAP similar genes for HACL1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with HACL1: view

Variants for HACL1 Gene

Sequence variations from dbSNP and Humsavar for HACL1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs905650 -- 15,568,563(-) TCCCT(A/G)CCTAT synonymous-codon, reference, nc-transcript-variant
rs1979896 -- 15,585,754(+) AGCTA(A/C)AATGT intron-variant
rs2055563 -- 15,587,789(+) TTAAC(C/T)TATAC intron-variant
rs2068906 -- 15,586,942(-) ATGCT(C/G)ATTTA intron-variant
rs2134784 -- 15,596,753(-) ATAAA(C/T)CCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HACL1 Gene

Variant ID Type Subtype PubMed ID
nsv834622 CNV Gain 17160897
nsv876582 CNV Gain 21882294
esv2724966 CNV Deletion 23290073
esv2724967 CNV Deletion 23290073
esv2228566 CNV Deletion 18987734

Variation tolerance for HACL1 Gene

Residual Variation Intolerance Score: 41.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HACL1 Gene

HapMap Linkage Disequilibrium report
HACL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HACL1 Gene

Disorders for HACL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HACL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
refsum disease
  • hsmn iv
- elite association
Search HACL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HACL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HACL1
genes like me logo Genes that share disorders with HACL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HACL1 Gene

Publications for HACL1 Gene

  1. Purification, molecular cloning, and expression of 2- hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine hydrophosphate- dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids. (PMID: 10468558) Foulon V. … Casteels M. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 23 67
  2. The role of 2-hydroxyacyl-CoA lyase, a thiamin pyrophosphate-dependent enzyme, in the peroxisomal metabolism of 3-methyl-branched fatty acids and 2-hydroxy straight-chain fatty acids. (PMID: 17956236) Casteels M. … Van Veldhoven P.P. (Biochem. Soc. Trans. 2007) 23 67
  3. [alpha-Oxidation of 3-methyl-branched fatty acids: unraveling of a pathway]. (PMID: 16796018) Casteels M. (Verh. K. Acad. Geneeskd. Belg. 2006) 23 67
  4. Thiamine pyrophosphate: an essential cofactor for the alpha-oxidation in mammals--implications for thiamine deficiencies? (PMID: 16786225) Sniekers M. … Van Veldhoven P.P. (Cell. Mol. Life Sci. 2006) 23 67
  5. Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanoyl-CoA lyase: a revised pathway for the alpha-oxidation of straight chain fatty acids. (PMID: 15644336) Foulon V. … Casteels M. (J. Biol. Chem. 2005) 2 67

Products for HACL1 Gene

Sources for HACL1 Gene

Back to Top

Content