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

HACL1 Gene

protein-coding   GIFtS: 61
GCID: GC03M015602

2-hydroxyacyl-CoA lyase 1

(Previous name: 2-hydroxyphytanoyl-CoA lyase )
(Previous symbol: HPCL)
 Explore 13 diseases affiliated with
HACL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HACL1    

Aliases
for HACL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
2-Hydroxyacyl-CoA Lyase 11 2     HPCL22 3
2-HPCL1 2 3     1600020H07Rik2
2-Hydroxyphytanoyl-CoA Lyase1 2 3     2-Hydroxyphytanol-CoA Lyase2
HPCL1 2 3     Phytanoyl-CoA Hydroxylase 22
PHYH21 2 3     EC 4.1.-.-3
Phytanoyl-CoA 2-Hydroxylase 22 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


Summaries
for HACL1 gene

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




Genomic Views
for HACL1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
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 plasmid: HACL1 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

Proteins
for HACL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJ83

    • HACL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036392.2  
    ENSEMBL proteins: 
     ENSP00000323811   ENSP00000395278   ENSP00000373289   ENSP00000403656   ENSP00000390699  
     ENSP00000404883   ENSP00000392796   ENSP00000391393   ENSP00000395352  
    Reactome Protein details: Q9UJ83
    Human Recombinant Protein Products: 
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    Novus Biologicals HACL1 Protein
    Novus Biologicals HACL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA14561759
    GO:0005782peroxisomal matrix TAS--


    HACL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HACL1

    Protein Domains /
    Families
    for HACL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HACL1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB000399 Pyruvate decarboxylase
    IPB011766 Thiamine pyrophosphate enzyme


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


    Function
    for HACL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: 2-hydroxyphytanoyl-CoA = pristanal + formyl-CoA

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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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


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


    Pathways & Interactions
    for HACL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1fatty acid alpha-oxidation II
    		fatty acid alpha-oxidation II1.00
    		Alpha-oxidation of phytanate0.30
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3fatty acid alpha-oxidation III
    		fatty acid alpha-oxidation III1.00
    4Peroxisome
    		Peroxisome1.00
    5Peroxisomal lipid metabolism
    		Peroxisomal lipid metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561fatty acid alpha-oxidation TAS--
    GO:0006629lipid metabolic process ----
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0051259protein oligomerization IDA--


    HACL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HACL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for HACL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HACL1 gene: 
    NM_012260.2  

    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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: HACL1
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    Clone
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    Additional cDNA 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):

    AI767344 BM126759 AV647242 CA441447 CN479599 CF243126 AI636915 CR608246 
    BI257893 BM670044 BQ925313 BE408527 H10428 AA298294 BQ081903 BF434073 
    BU629861 BU182873 BM127064 BF475319 CF141663 AF161397 CK818807 BM126185 

    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

    Expression
    for HACL1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGAGCCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HACL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainFourth VentricleBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for HACL1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for HACL1 gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 73(a)
    		 1 ↔ 1
    		 6(35343656-35372586)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria oxc6
    gcl6
    		 glyoxylate carboligase
    		 38(a)
    17(a)
    		 1 ↔ 1
    possible ortholog
    		 Chromosome(2488278-2489972)
    Chromosome(533140-534921)


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

    Paralogs
    for HACL1 gene

    (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



    Genomic Variants
    for HACL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/766 NCBI SNPs in HACL1 are shown (see all 766)     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
    		--15601821(+) GTCTCA/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
    		--15602801(+) ACATAC/TGGCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for HACL1 (15602211 - 15643338 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HACL1
         1 Indel: 46311

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HACL1
    DNA2.0 Custom Variant and Variant Library Synthesis for HACL1

    Disorders / Diseases
    for HACL1 gene

    (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.)
    About This Section
    HACL1 for disorders           About GeneDecksing

    OMIM gene information: 604300    OMIM disorders: --

    13 diseases for HACL1:    About MalaCards
    rhizomelic chondrodysplasia punctata    chondrodysplasia punctata    beriberi    chondrodysplasia
    megaloblastic anemia    refsum disease    zellweger syndrome    peroxisomal disease
    anemia    pneumonia    tuberculosis    mycobacterium tuberculosis
    alcoholism

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

    Export disorders for HACL1 gene to outside databases

    Publications
    for HACL1 gene

    (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 26):
    (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. 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)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. 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)
    9. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    External Searches for HACL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HACL1 gene

    (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

    Other Databases showing HACL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HACL1 gene

    (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

    Intellectual Property
    for HACL1 gene

    (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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