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HACL1 Gene

protein-coding   GIFtS: 61
GCID: GC03M015602

2-Hydroxyacyl-CoA Lyase 1

(Previous name: 2-hydroxyphytanoyl-CoA lyase)
(Previous symbol: HPCL)
  See HACL1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   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 Chromatin IP Primers for HACL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys540
  • Modification sites at PhosphoSitePlus

  • See HACL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    HACL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HACL1

     
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    antibodies-online peptides for HACL1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with HACL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with HACL1           About GenesLikeMe


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

         1 MGI phenotypic allele for Hacl1 (no phenotypes)

    Find genes that share phenotypes with HACL1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HACL1

    miRNA
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    miRTarBase miRNAs that target HACL1:
    hsa-mir-204-5p (MIRT047020), hsa-mir-93-3p (MIRT038899)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HACL1_HUMAN, Q9UJ83: Peroxisome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome5
    plasma membrane3
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with HACL1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HACL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    2fatty acid alpha-oxidation III
    fatty acid alpha-oxidation III0.33
    fatty acid alpha-oxidation II0.33
    3Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Alpha-oxidation of phytanate0.00
    4Peroxisome
    Peroxisome


    Find genes that share SuperPaths with HACL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for HACL1
        Alpha-oxidation of phytanate


    1 Kegg Pathway  (Kegg details for HACL1):
        Peroxisome

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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HACL1
    Interactions:

        Search GeneGlobe Interaction Network for HACL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for HACL1 (Q9UJ831, 2, 3 ENSP000003238114) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

    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): Selected biological process terms (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--

    Find genes that share ontologies with HACL1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with HACL1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 

    Selected AceView cDNA sequences (see all 264):

    AV647242 BU527364 AA564217 BF475319 BM759883 BQ081903 BM127064 BF434073 
    CF141663 BU629861 AI767344 Z41242 CK818807 AI636915 CR609501 BE408527 
    CR608246 BM670044 BQ925313 BM017121 BU182873 AL043205 BI257893 BM694820 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HACL1 expression in normal human tissues (normalized intensities)
    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
     
     Brain (Nervous System)
             Fourth Ventricle
    HACL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HACL1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HACL1 gene from Selected 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
    2-hydroxyacyl-CoA lyase 1
    74(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 CELE_B0334.3 54.55(n)
    49.2(a)
      174758  NM_064053.3  NP_496454.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YEL020C)4
    YEL020C1
    Hypothetical protein with low sequence identity to more4
    YEL020C1
    50.37(n)1
    41.98(a)1
      5(120299-118617)4
    8566941, 4  NP_010895.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G173801 AT5G17380 50.27(n)
    43.38(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)
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    Paralogs for HACL1 gene
    ILVBL2  
    2 SIMAP similar genes for HACL1 using alignment to 8 protein entries:     HACL1_HUMAN (see all proteins):
    PHYH2    ILVBL

    Find genes that share paralogs with HACL1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for HACL1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HACL1
    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604300    OMIM disorders: --

    2 diseases for HACL1:    
    About MalaCards
    beriberi    rhizomelic chondrodysplasia punctata

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

    Find genes that share disorders with HACL1           About GenesLikeMe


    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)
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    PubMed articles for HACL1 gene, integrated from 10 sources (see all 31):
    (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- 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. (PubMed id 10468558)1, 2, 3, 9 Foulon V.... Casteels M. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 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. (Genome Res. 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. (Genome Res. 2000)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 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. (Nat. Cell Biol. 2012)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. Role of thiamine pyrophosphate in oligomerisation, functioning and import of peroxisomal 2-hydroxyacyl-CoA lyase. (PubMed id 21708296)1 Fraccascia P....Van Veldhoven P.P. (Biochim. Biophys. Acta 2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. 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. (J. Biol. Chem. 2011)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 26061 HGNC: 17856 AceView: HPCL2 Ensembl:ENSG00000131373 euGenes: HUgn26061
    ECgene: HACL1 Kegg: 26061 H-InvDB: HACL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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