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ABHD1 (abhydrolase domain containing 1)

Identity

Alias_symbol (synonym)LABH1
FLJ36128
Other alias
HGNC (Hugo) ABHD1
LocusID (NCBI) 84696
Atlas_Id 60046
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27346657 and ends at 27353680 bp from pter ( according to hg19-Feb_2009)

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)ABHD1   17553
Cards
Entrez_Gene (NCBI)ABHD1  84696  abhydrolase domain containing 1
AliasesLABH1
GeneCards (Weizmann)ABHD1
Ensembl hg19 (Hinxton)ENSG00000143994 [Gene_View]  chr2:27346657-27353680 [Contig_View]  ABHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143994 [Gene_View]  chr2:27346657-27353680 [Contig_View]  ABHD1 [Vega]
ICGC DataPortalENSG00000143994
TCGA cBioPortalABHD1
AceView (NCBI)ABHD1
Genatlas (Paris)ABHD1
WikiGenes84696
SOURCE (Princeton)ABHD1
Genetics Home Reference (NIH)ABHD1
Genomic and cartography
GoldenPath hg19 (UCSC)ABHD1  -     chr2:27346657-27353680 +  2p23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABHD1  -     2p23.3   [Description]    (hg38-Dec_2013)
EnsemblABHD1 - 2p23.3 [CytoView hg19]  ABHD1 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIABHD1 [Mapview hg19]  ABHD1 [Mapview hg38]
OMIM612195   
Gene and transcription
Genbank (Entrez)AK074615 AK093447 AY033290 BC028378 BC031868
RefSeq transcript (Entrez)NM_032604 NM_152870
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)ABHD1
Cluster EST : UnigeneHs.375791 [ NCBI ]
CGAP (NCI)Hs.375791
Alternative Splicing GalleryENSG00000143994
Gene ExpressionABHD1 [ NCBI-GEO ]   ABHD1 [ EBI - ARRAY_EXPRESS ]   ABHD1 [ SEEK ]   ABHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84696
GTEX Portal (Tissue expression)ABHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96SE0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96SE0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96SE0
Splice isoforms : SwissVarQ96SE0
Catalytic activity : Enzyme3.1.1.- [ Enzyme-Expasy ]   3.1.1.-3.1.1.- [ IntEnz-EBI ]   3.1.1.- [ BRENDA ]   3.1.1.- [ KEGG ]   
PhosPhoSitePlusQ96SE0
Domaine pattern : Prosite (Expaxy)UPF0017 (PS01133)   
Domains : Interpro (EBI)AB-Hydro_YheT    AB_hydrolase    AB_hydrolase_1    UPF0017_hydro-like_CS   
Domain families : Pfam (Sanger)Abhydrolase_6 (PF12697)   
Domain families : Pfam (NCBI)pfam12697   
Conserved Domain (NCBI)ABHD1
DMDM Disease mutations84696
Blocks (Seattle)ABHD1
SuperfamilyQ96SE0
Human Protein AtlasENSG00000143994
Peptide AtlasQ96SE0
HPRD07468
IPIIPI00604795   IPI00892822   IPI00894245   IPI00892556   
Protein Interaction databases
DIP (DOE-UCLA)Q96SE0
IntAct (EBI)Q96SE0
FunCoupENSG00000143994
BioGRIDABHD1
STRING (EMBL)ABHD1
ZODIACABHD1
Ontologies - Pathways
QuickGOQ96SE0
Ontology : AmiGOmolecular_function  protein binding  biological_process  metabolic process  integral component of membrane  carboxylic ester hydrolase activity  
Ontology : EGO-EBImolecular_function  protein binding  biological_process  metabolic process  integral component of membrane  carboxylic ester hydrolase activity  
NDEx NetworkABHD1
Atlas of Cancer Signalling NetworkABHD1
Wikipedia pathwaysABHD1
Orthology - Evolution
OrthoDB84696
GeneTree (enSembl)ENSG00000143994
Phylogenetic Trees/Animal Genes : TreeFamABHD1
HOVERGENQ96SE0
HOGENOMQ96SE0
Homologs : HomoloGeneABHD1
Homology/Alignments : Family Browser (UCSC)ABHD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABHD1
dbVarABHD1
ClinVarABHD1
1000_GenomesABHD1 
Exome Variant ServerABHD1
ExAC (Exome Aggregation Consortium)ABHD1 (select the gene name)
Genetic variants : HAPMAP84696
Genomic Variants (DGV)ABHD1 [DGVbeta]
DECIPHER (Syndromes)2:27346657-27353680  ENSG00000143994
CONAN: Copy Number AnalysisABHD1 
Mutations
ICGC Data PortalABHD1 
TCGA Data PortalABHD1 
Broad Tumor PortalABHD1
OASIS PortalABHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABHD1
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 ABHD1
DgiDB (Drug Gene Interaction Database)ABHD1
DoCM (Curated mutations)ABHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABHD1 (select a term)
intoGenABHD1
Cancer3DABHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612195   
Orphanet
MedgenABHD1
Genetic Testing Registry ABHD1
NextProtQ96SE0 [Medical]
TSGene84696
GENETestsABHD1
Huge Navigator ABHD1 [HugePedia]
snp3D : Map Gene to Disease84696
BioCentury BCIQABHD1
ClinGenABHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84696
Chemical/Pharm GKB GenePA38459
Clinical trialABHD1
Miscellaneous
canSAR (ICR)ABHD1 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABHD1
EVEXABHD1
GoPubMedABHD1
iHOPABHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:53:21 CET 2017

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