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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 beriberi and rhizomelic chondrodysplasia punctata. Among its related pathways are Metabolism and 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

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 Lys540
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HACL1 Gene

Domains for HACL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJ83

UniProtKB/Swiss-Prot:

HACL1_HUMAN :
  • Q9UJ83
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

GenomeRNAi human phenotypes for HACL1:
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 Targeting 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
plasma membrane 3
mitochondrion 1

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 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:0019385 methanogenesis, from acetate --
GO:0044255 cellular lipid metabolic process TAS --
genes like me logo Genes that share ontologies with HACL1: view

Compounds for HACL1 Gene

(5) HMDB Compounds for HACL1 Gene

Compound Synonyms Cas Number PubMed IDs
2-Hydroxyphytanoyl-CoA
  • 2-Hydroxyphytanoyl-CoA
172787-73-4
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
Magnesium
  • Magnesium
7439-95-4
Pristanal
  • 2(S)-pristanal
105373-75-9
Thiamine pyrophosphate
  • TPP
154-87-0

(6) Novoseek inferred chemical compound relationships for HACL1 Gene

Compound -log(P) Hits PubMed IDs
2-hydroxyphytanoyl-coa 99.5 12
formyl-coa 97.2 1
phytanic acid 95.1 4
thiamine pyrophosphate 83.9 2
thiamine 65.4 1
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

Primer Products

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 for HACL1 Gene

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

Integrated Proteomics: protein expression 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 expressions with HACL1: view

Expression partners for HACL1 Gene

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

Selected 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

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

MalaCards: The human disease database.

Search for HACL1 Gene in MalaCards »

(2) Diseases for HACL1 Gene including...

(3) University of Copenhagen DISEASES for HACL1 Gene

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

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships , Genatlas and External Links 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 3 4 23
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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 3

Products for HACL1 Gene

Sources for HACL1 Gene

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