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 5
  • 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 Alpha-Methylacyl-Coa Racemase Deficiency and Beriberi. 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.

Additional gene information for HACL1 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for HACL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H015600 1.4 ENCODE dbSUPER 20.9 +0.2 225 2.5 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302 CCDC174 NR2C2 HACL1 ENSG00000270409 CAPN7 EAF1-AS1 SH3BP5-AS1 MRPS25 COLQ BTD
GH03H015555 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +44.9 44914 2.1 TBL1XR1 BMI1 RAD21 RFX5 ZNF143 ATF7 ETV6 RUNX3 CREM IKZF2 COLQ EAF1 HACL1 ANKRD28 SH3BP5 METTL6 CAPN7 PIR61561 BTD
GH03H014946 1.4 Ensembl ENCODE 12.4 +653.3 653276 4.7 PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF766 ZNF143 ZNF207 NR2C2 CCDC174 CAPN7 EAF1-AS1 HACL1 FGD5-AS1 SH3BP5-AS1 METTL6 MRPS25 RBSN
GH03H015309 1.5 Ensembl ENCODE dbSUPER 10.7 +290.8 290784 3.6 PKNOX1 ATF1 ARNT SIN3A FEZF1 ZNF2 TCF12 ZNF766 CBX5 GATA2 CCDC174 NR2C2 SH3BP5 SH3BP5-AS1 HACL1 CAPN7 EAF1-AS1 GC03P015339 PIR49400
GH03H015629 2 FANTOM5 Ensembl ENCODE dbSUPER 7 -32.6 -32635 9.5 PKNOX1 ARNT SIN3A FEZF1 YY1 ZNF766 ZNF143 FOS DEK JUNB EAF1 CAPN7 COL6A4P1 COLQ HACL1 BTD SH3BP5 ANKRD28 PIR61991
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HACL1 on UCSC Golden Path with GeneCards custom track

Promoters for HACL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000149087 152 1801 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF302

Genomic Locations for HACL1 Gene

Genomic Locations for HACL1 Gene
chr3:15,560,704-15,601,852
(GRCh38/hg38)
Size:
41,149 bases
Orientation:
Minus strand
chr3:15,602,211-15,643,338
(GRCh37/hg19)

Genomic View for HACL1 Gene

Genes around HACL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HACL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Cofactor:
    Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
    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

Post-translational modifications for HACL1 Gene

  • Ubiquitination at isoforms=2, 3, 4540
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HACL1 Gene

Domains & Families for HACL1 Gene

Gene Families for HACL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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 IEA --
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 16189514
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with HACL1: view
genes like me logo Genes that share phenotypes with HACL1: view

Animal Models for HACL1 Gene

MGI Knock Outs for HACL1:

Animal Model Products

miRNA for HACL1 Gene

miRTarBase miRNAs that target HACL1

Clone Products

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HACL1 gene
Compartment Confidence
peroxisome 5
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HACL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA,IEA 10468558
GO:0005782 peroxisomal matrix TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
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 IDA,TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0051259 protein oligomerization IDA 21708296
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

(2) Drugs for HACL1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0

(6) 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
Thiamine pyrophosphate
  • Thaimine pyrophosphate
  • Thiamin diphosphate
  • Thiamin pyrophosphate
  • Thiamin-PPi
  • Thiamine diphosphate
154-87-0
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
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HACL1 Gene



Protein tissue co-expression partners for HACL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HACL1 Gene:

HACL1

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.

Evidence on tissue expression from TISSUES for HACL1 Gene

  • Liver(4.4)
  • Blood(4.3)
  • Lung(4.2)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with HACL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia HACL1 34 33
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HACL1 33 34
  • 89.68 (n)
cow
(Bos Taurus)
Mammalia HACL1 33 34
  • 89.27 (n)
mouse
(Mus musculus)
Mammalia Hacl1 16 34 33
  • 85.7 (n)
rat
(Rattus norvegicus)
Mammalia Hacl1 33
  • 85.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HACL1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves HACL1 33 34
  • 73.66 (n)
lizard
(Anolis carolinensis)
Reptilia HACL1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hacl1 33
  • 69.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19375 33
zebrafish
(Danio rerio)
Actinopterygii hacl1 33 34
  • 65.49 (n)
wufd42e11 33
fruit fly
(Drosophila melanogaster)
Insecta CG11208 33 34
  • 55.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010368 33
  • 54.65 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_B0334.3 33
  • 54.55 (n)
B0334.3 34
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YEL020C 33
  • 50.37 (n)
-- 34
  • 39 (a)
OneToMany
PXP1 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL055C 33
  • 48.61 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G17380 33
  • 50.27 (n)
rice
(Oryza sativa)
Liliopsida Os.15077 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC725.04 33
  • 51.75 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11401 33
Species where no ortholog for HACL1 was found in the sources mined by GeneCards:
  • 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
rs1057516440 Likely pathogenic 15,601,895(+) AGCAG(A/C/G/T)TACGG intron-variant, upstream-variant-2KB, splice-donor-variant
rs1057517114 Likely pathogenic 15,601,895(+) AGCAG(-/G)TACGG intron-variant, upstream-variant-2KB, splice-donor-variant
rs143058480 Likely pathogenic 15,601,893(+) AGAGC(A/G/T)GGTAC intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs184480128 Uncertain significance 15,601,806(+) ATTGT(C/T)TCCGA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs199516128 Uncertain significance 15,601,846(+) TAAAG(G/T)GAGAA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv834622 CNV gain 17160897
esv2724967 CNV deletion 23290073
esv2724966 CNV deletion 23290073
esv2228566 CNV deletion 18987734

Variation tolerance for HACL1 Gene

Residual Variation Intolerance Score: 41.4% 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

Human Gene Mutation Database (HGMD)
HACL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HACL1

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

Disorders for HACL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HACL1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alpha-methylacyl-coa racemase deficiency
  • amacr deficiency
beriberi
  • thiamine deficiency
refsum disease
  • heredopathia atactica polyneuritiformis
hemangiopericytoma, malignant
  • hemangiopericytoma
- elite association - COSMIC cancer census association via MalaCards
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 pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids. (PMID: 10468558) Foulon V … Casteels M (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 60
  2. 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 (The Journal of biological chemistry 2005) 2 3 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. 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 QH … Chen Z (Genome research 2000) 3 4 60

Products for HACL1 Gene

Sources for HACL1 Gene

Content
Loading form....