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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HACL1 Gene

protein-coding   GIFtS: 60
GCID: GC03M015602

2-Hydroxyacyl-CoA Lyase 1

(Previous name: 2-hydroxyphytanoyl-CoA lyase)
(Previous symbol: HPCL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
2-Hydroxyacyl-CoA Lyase 11 2     PHYH22 3
2-Hydroxyphytanoyl-CoA Lyase1 2 3     1600020H07Rik2
HPCL1 2 3     2-Hydroxyphytanol-CoA Lyase2
Phytanoyl-CoA 2-Hydroxylase 22 3     Phytanoyl-CoA Hydroxylase 22
2-HPCL2 3     EC 4.1.-.-3
HPCL22 3     

External Ids:    HGNC: 178561   Entrez Gene: 260612   Ensembl: ENSG000001313737   OMIM: 6043005   UniProtKB: Q9UJ833   

Export aliases for HACL1 gene to outside databases

Previous GC identifers: GC03M015579 GC03M015538


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HACL1 Gene: 
HACL1 (2-hydroxyacyl-CoA lyase 1) is a protein-coding gene. Diseases associated with HACL1 include beriberi, and peroxisomal disease, and among its related super-pathways are fatty acid alpha-oxidation II and Metabolic pathways. GO annotations related to this gene include magnesium ion binding and identical protein binding. An important paralog of this gene is ILVBL.

UniProtKB/Swiss-Prot: HACL1_HUMAN, Q9UJ83
Function: Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a
2-methyl-branched fatty aldehyde




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HACL1 gene promoter:
         Nkx3-1   GR   Nkx3-1 v4   AML1a   Sp1   GR-beta   Nkx3-1 v1   Nkx3-1 v2   Nkx3-1 v3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHACL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HACL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HACL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25.1   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p24.3

HACL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HACL1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M015602:  view genomic region     (about GC identifiers)

Start:
15,602,211 bp from pter      End:
15,643,338 bp from pter
Size:
41,128 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HACL1_HUMAN, Q9UJ83 (See protein sequence)
Recommended Name: 2-hydroxyacyl-CoA lyase 1  
Size: 578 amino acids; 63729 Da
Cofactor: Binds 1 magnesium ion per subunit
Cofactor: Binds 1 thiamine pyrophosphate per subunit
Subunit: Homotetramer
Subcellular location: Peroxisome
Sequence caution: Sequence=AAF28957.1; Type=Erroneous initiation;
Secondary accessions: Q9BV42 Q9P0A2

Explore the universe of human proteins at neXtProt for HACL1: NX_Q9UJ83

Explore proteomics data for HACL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UJ83

  • HACL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HACL1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001271342.1  NP_001271344.1  NP_001271345.1  NP_036392.2  

    ENSEMBL proteins: 
     ENSP00000323811   ENSP00000395278   ENSP00000373289   ENSP00000403656   ENSP00000390699  
     ENSP00000404883   ENSP00000392796   ENSP00000391393   ENSP00000395352  
    Reactome Protein details: Q9UJ83
    Human Recombinant Protein Products for HACL1: 
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    Cloud-Clone Corp. Proteins for HACL1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA10468558
    GO:0005782peroxisomal matrix TAS--

    HACL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR012001 Thiamin_PyroP_enz_TPP-bd_dom
     IPR012000 Thiamin_PyroP_enz_cen_dom
     IPR011766 TPP_enzyme-bd_C

    Graphical View of Domain Structure for InterPro Entry Q9UJ83

    ProtoNet protein and cluster: Q9UJ83

    2 Blocks protein domains:
    IPB000399 Pyruvate decarboxylase
    IPB011766 Thiamine pyrophosphate enzyme


    UniProtKB/Swiss-Prot: HACL1_HUMAN, Q9UJ83
    Similarity: Belongs to the TPP enzyme family


    HACL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HACL1_HUMAN, Q9UJ83
    Function: Catalyzes a carbon-carbon cleavage reaction; cleaves a 2-hydroxy-3-methylacyl-CoA into formyl-CoA and a
    2-methyl-branched fatty aldehyde
    Catalytic activity: 2-hydroxyphytanoyl-CoA = pristanal + formyl-CoA

         Enzyme Number (IUBMB): EC 4.1.-.-1

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0003824catalytic activity ----
    GO:0005102receptor binding IPI--
    GO:0016829lyase activity ----
    GO:0016830carbon-carbon lyase activity TAS--
         
    HACL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HACL1:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HACL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Alpha-oxidation of phytanate
    fatty acid alpha-oxidation II0.50
    Alpha-oxidation of phytanate0.50
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3fatty acid alpha-oxidation III
    fatty acid alpha-oxidation III0.50
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism0.38
    5Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HACL1
        fatty acid alpha-oxidation II
    fatty acid alpha-oxidation III


    4        Reactome Pathways for HACL1
        Alpha-oxidation of phytanate
    Metabolism
    Peroxisomal lipid metabolism
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for HACL1):
        Peroxisome

    UniProtKB/Swiss-Prot: HACL1_HUMAN, Q9UJ83
    Pathway: Lipid metabolism; fatty acid metabolism


    HACL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HACL1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/20 Interacting proteins for HACL1 (Q9UJ831, 2, 3 ENSP000003238114) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZMYND19Q96E352, 3, ENSP000002985854MINT-66872 I2D: score=4 STRING: ENSP00000298585
    MAPK6Q166592, 3MINT-8261219 I2D: score=2 
    HACL1Q9UJ831, 2EBI-746580,EBI-746580 MINT-67228
    GNB2L1P632443I2D: score=1 
    IKBKAPO951633I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561fatty acid alpha-oxidation TAS--
    GO:0006629lipid metabolic process ----
    GO:0019385methanogenesis, from acetate ----
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    HACL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HACL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HACL1

    5 HMDB Compounds for HACL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Hydroxyphytanoyl-CoA2-Hydroxyphytanoyl-CoA (see all 10)172787-73-4--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Pristanal2(S)-pristanal (see all 7)105373-75-9--
    Thiamine pyrophosphateTPP (see all 11)154-87-0--

    6 Novoseek inferred chemical compound relationships for HACL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-hydroxyphytanoyl-coa 99.5 15 10521701 (3), 10468558 (2), 10754307 (1), 16796018 (1) (see all 9)
    formyl-coa 97.2 2 16796018 (1)
    phytanic acid 95.1 5 16786225 (1), 10521701 (1), 10896309 (1), 11948235 (1)
    thiamine pyrophosphate 83.9 7 16796018 (1), 16786225 (1)
    thiamine 65.4 3 16786225 (1)
    formate 60.6 2 16796018 (1)

    Search CenterWatch for drugs/clinical trials and news about HACL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HACL1 gene (4 alternative transcripts): 
    NM_001284413.1  NM_001284415.1  NM_001284416.1  NM_012260.3  

    Unigene Cluster for HACL1:

    2-hydroxyacyl-CoA lyase 1
    Hs.63290  [show with all ESTs]
    Unigene Representative Sequence: NM_012260
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321169(uc011avr.1 uc011avs.2 uc011avt.2 uc003cag.3 uc011avu.2 uc010hep.3 uc003caf.3)
    ENST00000435217 ENST00000383779 ENST00000451445 ENST00000456194 ENST00000457447
    ENST00000422591 ENST00000421993 ENST00000414979 ENST00000469454 ENST00000460907
    ENST00000472857
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    Additional mRNA sequence: 

    AF161397.1 AJ131753.1 AK056977.1 AK301546.1 AK301990.1 AK302086.1 BC001627.1 BC007440.2 

    21 DOTS entries:

    DT.416311  DT.100804747  DT.92442759  DT.101974633  DT.120886761  DT.315966  DT.120886740  DT.416313 
    DT.100804752  DT.120886833  DT.40193790  DT.120886839  DT.100737498  DT.101962225  DT.100762559  DT.120886731 
    DT.120886743  DT.75192882  DT.95130837  DT.91684326  DT.97846094 

    24/264 AceView cDNA sequences (see all 264):

    CF141663 BM675556 BM127064 BM017121 BI257893 AI767344 BU629861 BE408527 
    BM699390 Z41242 BM759883 BF434073 CB145879 BM694820 AA039835 H10428 
    CR609501 CA441883 BU527364 BF475319 AV647242 BM126185 BQ925313 AI636915 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for HACL1 (see all 20)    About this scheme

    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:                          -     -           -           -                 -                                                                                 

    ExUns: 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c
    SP1:                          -                     
    SP2:                          -                     
    SP3:                          -                     
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for HACL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HACL1 expression in normal human tissues (normalized intensities)      HACL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGAGCCAC
    HACL1 Expression
    About this image


    HACL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Fourth Ventricle
             brain/forebrain/telencephalon   
     
     Endothelium (Cardiovascular System)
             blood vessel   

    See HACL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HACL1

    SOURCE GeneReport for Unigene cluster: Hs.63290

    UniProtKB/Swiss-Prot: HACL1_HUMAN, Q9UJ83
    Tissue specificity: Expressed in high levels in liver, also expressed in kidney, heart and skeletal muscle

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HACL1 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hacl11 , 5 2-hydroxyacyl-CoA lyase 11, 5 85.7(n)1
    87.89(a)1
      14 (19.23 cM)5
    567941  NM_019975.31  NP_064359.21 
     315529055 
    chicken
    (Gallus gallus)
    Aves HACL11 2-hydroxyacyl-CoA lyase 1 73.66(n)
    73.72(a)
      420638  NM_001199628.1  NP_001186557.1 
    lizard
    (Anolis carolinensis)
    Reptilia HACL16
    Uncharacterized protein
    73(a)
    1 ↔ 1
    6(35343279-35374110)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.193752 Xenopus laevis transcribed sequence with moderate similarity more 76.59(n)    CF519391.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd42e112 Transcribed sequence with weak similarity to protein more 77.44(n)    57057432 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG112081 CG11208 55.18(n)
    53.36(a)
      37285  NM_137616.2  NP_611460.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_B0334.31 Protein B0334.3 54.46(n)
    49.29(a)
      174758  NM_064053.2  NP_496454.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YEL020C)4
    YEL020C1
    Hypothetical protein with low sequence identity to more4
    hypothetical protein1
    50.25(n)1
    41.6(a)1
      5(120299-118617)4
    8566941, 4  NP_010895.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G173801 2-hydroxyacyl-CoA lyase 50.43(n)
    43.43(a)
      831604  NM_121744.3  NP_197240.1 
    rice
    (Oryza sativa)
    Liliopsida Os.150772 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 79.13(n)    AK065111.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HACL1 gene
    ILVBL2  
    1 SIMAP similar gene for HACL1 using alignment to 9 protein entries:     HACL1_HUMAN (see all proteins):
    ILVBL

    HACL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/956 SNPs in HACL1 are shown (see all 956)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1468321191,2
    --15601748(+) AGGCAC/TGTATC 1 -- int10--------
    rs1827882391,2
    --15601771(+) TAATTA/CTGTAT 1 -- int10--------
    rs1878438751,2
    C--15601821(+) GTCTCA/C/GAACTC 1 -- int10--------
    rs1114114511,2
    --15601860(+) CCTCCG/CAAAAT 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs1924695491,2
    --15602169(+) CATCTG/TTAAGT 1 -- int10--------
    rs1497664771,2
    C--15602265(+) AAATG-/TTTAT 
            
    TTTAT
    1 -- ut310--------
    rs1414792151,2
    C,F--15602364(+) CTGGCG/ATCTTT 1 -- ut311Minor allele frequency- A:0.00EU 1319
    rs1503897641,2
    --15602504(+) ACACAA/GTGGTG 1 -- int10--------
    rs1381427111,2
    --15602664(+) GTCTAA/GAAGAA 1 -- int10--------
    rs1845062111,2
    C--15602801(+) ACATAC/TGGCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for HACL1 (15602211 - 15643338 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HACL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724967CNV Deletion23290073
    esv2228566CNV Deletion18987734
    esv2724966CNV Deletion23290073
    nsv876582CNV Gain21882294
    nsv834622CNV Gain17160897

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    DNA2.0 Custom Variant and Variant Library Synthesis for HACL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604300    OMIM disorders: --

    11 diseases for HACL1:    About MalaCards
    beriberi    peroxisomal disease    megaloblastic anemia    peroxisome disorders
    refsum disease    rhizomelic chondrodysplasia punctata    zellweger syndrome    chondrodysplasia
    anemia    tuberculosis    alcoholism

    3 diseases from the University of Copenhagen DISEASES database for HACL1:
    Beriberi     Rhizomelic chondrodysplasia punctata     Refsum disease

    HACL1 for disorders           About GeneDecksing


    Export disorders for HACL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HACL1 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with HACL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification, molecular cloning, and expression of 2-hydroxphytanoyl- CoA lyase, a peroxisomal thiamine hydrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3- methyl-branched fatty acids. (PubMed id 10468558)1, 2, 3, 9 Foulon V.... Casteels M. (1999)
    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. (PubMed id 15644336)1, 3 Foulon V....Casteels M. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Role of thiamine pyrophosphate in oligomerisation, fu nctioning and import of peroxisomal 2-hydroxyacyl-CoA lyase. (PubMed id 21708296)1 Fraccascia P....Van Veldhoven P.P. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid beta-oxidation in peroxisomal matrix. (PubMed id 22002062)1 Okumoto K.... Fujiki Y. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26061 HGNC: 17856 AceView: HPCL2 Ensembl:ENSG00000131373 euGenes: HUgn26061
    ECgene: HACL1 Kegg: 26061 H-InvDB: HACL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HACL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HACL1 gene:
    Search GeneIP for patents involving HACL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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