Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HACL1 (2-hydroxyacyl-CoA lyase 1)

Identity

Alias_namesHPCL
2-hydroxyphytanoyl-CoA lyase
Alias_symbol (synonym)2-HPCL
PHYH2
Other aliasHPCL2
HGNC (Hugo) HACL1
LocusID (NCBI) 26061
Atlas_Id 55532
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 15560704 and ends at 15601852 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGAP29 (1p22.1) / HACL1 (3p25.1)HACL1 (3p25.1) / COLQ (3p25.1)HACL1 (3p25.1) / LRPPRC (2p21)
HACL1 (3p25.1) / RAF1 (3p25.2)HACL1 (3p25.1) / RBM5 (3p21.31)HACL1 (3p25.1) / ZZEF1 (17p13.2)
HACL1 3p25.1 / RAF1 3p25.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HACL1   17856
Cards
Entrez_Gene (NCBI)HACL1  26061  2-hydroxyacyl-CoA lyase 1
Aliases2-HPCL; HPCL; HPCL2; PHYH2
GeneCards (Weizmann)HACL1
Ensembl hg19 (Hinxton)ENSG00000131373 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131373 [Gene_View]  chr3:15560704-15601852 [Contig_View]  HACL1 [Vega]
ICGC DataPortalENSG00000131373
TCGA cBioPortalHACL1
AceView (NCBI)HACL1
Genatlas (Paris)HACL1
WikiGenes26061
SOURCE (Princeton)HACL1
Genetics Home Reference (NIH)HACL1
Genomic and cartography
GoldenPath hg38 (UCSC)HACL1  -     chr3:15560704-15601852 -  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HACL1  -     3p25.1   [Description]    (hg19-Feb_2009)
EnsemblHACL1 - 3p25.1 [CytoView hg19]  HACL1 - 3p25.1 [CytoView hg38]
Mapping of homologs : NCBIHACL1 [Mapview hg19]  HACL1 [Mapview hg38]
OMIM604300   
Gene and transcription
Genbank (Entrez)AA643224 AF161397 AJ131753 AK056977 AK301546
RefSeq transcript (Entrez)NM_001284413 NM_001284415 NM_001284416 NM_012260
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HACL1
Cluster EST : UnigeneHs.63290 [ NCBI ]
CGAP (NCI)Hs.63290
Alternative Splicing GalleryENSG00000131373
Gene ExpressionHACL1 [ NCBI-GEO ]   HACL1 [ EBI - ARRAY_EXPRESS ]   HACL1 [ SEEK ]   HACL1 [ MEM ]
Gene Expression Viewer (FireBrowse)HACL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26061
GTEX Portal (Tissue expression)HACL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UJ83   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UJ83  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UJ83
Splice isoforms : SwissVarQ9UJ83
Catalytic activity : Enzyme4.1.-.- [ Enzyme-Expasy ]   4.1.-.-4.1.-.- [ IntEnz-EBI ]   4.1.-.- [ BRENDA ]   4.1.-.- [ KEGG ]   
PhosPhoSitePlusQ9UJ83
Domains : Interpro (EBI)DHS-like_NAD/FAD-binding_dom    THDP-binding    Thiamin_PyroP_enz_cen_dom    Thiamin_PyroP_enz_TPP-bd_dom    TPP_enzyme-bd_C   
Domain families : Pfam (Sanger)TPP_enzyme_C (PF02775)    TPP_enzyme_M (PF00205)    TPP_enzyme_N (PF02776)   
Domain families : Pfam (NCBI)pfam02775    pfam00205    pfam02776   
Conserved Domain (NCBI)HACL1
DMDM Disease mutations26061
Blocks (Seattle)HACL1
SuperfamilyQ9UJ83
Human Protein AtlasENSG00000131373
Peptide AtlasQ9UJ83
HPRD09183
IPIIPI00296535   IPI00925802   IPI00793954   IPI00925830   IPI00909416   IPI00385479   IPI00909144   IPI00924905   IPI00924738   
Protein Interaction databases
DIP (DOE-UCLA)Q9UJ83
IntAct (EBI)Q9UJ83
FunCoupENSG00000131373
BioGRIDHACL1
STRING (EMBL)HACL1
ZODIACHACL1
Ontologies - Pathways
QuickGOQ9UJ83
Ontology : AmiGOmagnesium ion binding  fatty acid alpha-oxidation  fatty acid alpha-oxidation  receptor binding  protein binding  peroxisome  peroxisomal matrix  carbon-carbon lyase activity  carbon-carbon lyase activity  thiamine pyrophosphate binding  identical protein binding  intracellular membrane-bounded organelle  cofactor binding  protein oligomerization  
Ontology : EGO-EBImagnesium ion binding  fatty acid alpha-oxidation  fatty acid alpha-oxidation  receptor binding  protein binding  peroxisome  peroxisomal matrix  carbon-carbon lyase activity  carbon-carbon lyase activity  thiamine pyrophosphate binding  identical protein binding  intracellular membrane-bounded organelle  cofactor binding  protein oligomerization  
Pathways : KEGGPeroxisome   
NDEx NetworkHACL1
Atlas of Cancer Signalling NetworkHACL1
Wikipedia pathwaysHACL1
Orthology - Evolution
OrthoDB26061
GeneTree (enSembl)ENSG00000131373
Phylogenetic Trees/Animal Genes : TreeFamHACL1
HOVERGENQ9UJ83
HOGENOMQ9UJ83
Homologs : HomoloGeneHACL1
Homology/Alignments : Family Browser (UCSC)HACL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHACL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HACL1
dbVarHACL1
ClinVarHACL1
1000_GenomesHACL1 
Exome Variant ServerHACL1
ExAC (Exome Aggregation Consortium)HACL1 (select the gene name)
Genetic variants : HAPMAP26061
Genomic Variants (DGV)HACL1 [DGVbeta]
DECIPHERHACL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHACL1 
Mutations
ICGC Data PortalHACL1 
TCGA Data PortalHACL1 
Broad Tumor PortalHACL1
OASIS PortalHACL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHACL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHACL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HACL1
DgiDB (Drug Gene Interaction Database)HACL1
DoCM (Curated mutations)HACL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HACL1 (select a term)
intoGenHACL1
Cancer3DHACL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604300   
Orphanet
MedgenHACL1
Genetic Testing Registry HACL1
NextProtQ9UJ83 [Medical]
TSGene26061
GENETestsHACL1
Target ValidationHACL1
Huge Navigator HACL1 [HugePedia]
snp3D : Map Gene to Disease26061
BioCentury BCIQHACL1
ClinGenHACL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26061
Chemical/Pharm GKB GenePA142671172
Clinical trialHACL1
Miscellaneous
canSAR (ICR)HACL1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHACL1
EVEXHACL1
GoPubMedHACL1
iHOPHACL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:54:59 CEST 2017

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