This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008] See more...

Aliases for ABHD1 Gene

Aliases for ABHD1 Gene

  • Abhydrolase Domain Containing 1 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 1 3 4
  • Abhydrolase Domain-Containing Protein 1 3 4
  • Lung Alpha/Beta Hydrolase 1 3 4
  • Protein ABHD1 3 4
  • LABH1 3 4
  • Testicular Tissue Protein Li 5 3
  • EC 3.1.1.- 4
  • EC 3.1.1 52

External Ids for ABHD1 Gene

Previous GeneCards Identifiers for ABHD1 Gene

  • GC02P027268
  • GC02P027439
  • GC02P027321
  • GC02P027258
  • GC02P027349
  • GC02P027088

Summaries for ABHD1 Gene

Entrez Gene Summary for ABHD1 Gene

  • This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABHD1 Gene

ABHD1 (Abhydrolase Domain Containing 1) is a Protein Coding gene. Diseases associated with ABHD1 include Hypotonia-Cystinuria Syndrome. Gene Ontology (GO) annotations related to this gene include carboxylic ester hydrolase activity. An important paralog of this gene is ABHD3.

Additional gene information for ABHD1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD1 Gene

Genomics for ABHD1 Gene

GeneHancer (GH) Regulatory Elements for ABHD1 Gene

Promoters and enhancers for ABHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J027122 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.1 -71 1.8 NRF1 POLR2G PHF8 CTCF ZIC2 ZBTB10 ZBTB26 REST TGIF2 CTBP1 ABHD1 TCF23 ATRAID SLC5A6 KHK EMILIN1 CAD CENPA SLC35F6 CGREF1
GH02J027123 Promoter 0.4 Ensembl 500.7 -1.1 -1079 0.2 ZBTB17 ABHD1 KHK TCF23 ATRAID SLC5A6 EMILIN1 CAD CGREF1
GH02J027069 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -44.3 -44318 20.9 RXRA HNRNPK FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 SIN3A NRF1 KHK EMILIN1 OST4 ATRAID NRBP1 SNX17 CGREF1 GTF3C2 ENSG00000234072 GPN1
GH02J027090 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -30.0 -30013 6.3 EP300 FOXK2 ZNF217 POLR2G NCOR1 SIX5 KDM6A POLR2A ZBTB11 TCF7 KHK CAD ATRAID ENSG00000234072 PREB GTF3C2 SNX17 TMEM214 EIF2B4 GTF3C2-AS1
GH02J027263 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 10.5 +139.8 139821 3.6 HNRNPK TCF12 MYC USF1 PHF8 ZFX ZNF639 CTCF ZNF10 ZIC2 SLC30A3 GTF3C2 CAD SNX17 ATRAID GTF3C2-AS1 ENSG00000234072 PREB EMILIN1 TMEM214
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD1

Top Transcription factor binding sites by QIAGEN in the ABHD1 gene promoter:
  • CUTL1
  • Elk-1
  • HNF-4alpha1
  • NF-1
  • NF-1/L
  • Nkx2-2
  • NRSF form 1
  • NRSF form 2
  • p300
  • STAT3

Genomic Locations for ABHD1 Gene

Genomic Locations for ABHD1 Gene
chr2:27,123,780-27,130,991
(GRCh38/hg38)
Size:
7,212 bases
Orientation:
Plus strand
chr2:27,346,657-27,353,680
(GRCh37/hg19)
Size:
7,024 bases
Orientation:
Plus strand

Genomic View for ABHD1 Gene

Genes around ABHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD1 Gene

Proteins for ABHD1 Gene

  • Protein details for ABHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SE0-ABHD1_HUMAN
    Recommended name:
    Protein ABHD1
    Protein Accession:
    Q96SE0
    Secondary Accessions:
    • B3KSF6
    • E9PDR9
    • Q05BY3
    • Q53SZ1
    • Q8IXQ7

    Protein attributes for ABHD1 Gene

    Size:
    405 amino acids
    Molecular mass:
    45207 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD1 Gene

Selected DME Specific Peptides for ABHD1 Gene

Q96SE0:
  • ALYLGYYW
  • NTEDLETV
  • GGHIGFLEG
  • ETFYPTLWCFEGRLQ
  • VVFNNRG
  • AADDPFSPV

Post-translational modifications for ABHD1 Gene

  • Glycosylation at Asn10
  • Modification sites at PhosphoSitePlus

Domains & Families for ABHD1 Gene

Gene Families for ABHD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ABHD1 Gene

Blocks:
  • Protein of unknown function UPF0017
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD1 Gene

GenScript: Design optimal peptide antigens:
  • Lung alpha/beta hydrolase 1 (ABHD1_HUMAN)
  • cDNA FLJ36128 fis, clone TESTI2024473, highly similar to Homo sapiens abhydrolase domain containing 1 (ABHD1), transcript variant 1, mRNA (B3KSF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96SE0

UniProtKB/Swiss-Prot:

ABHD1_HUMAN :
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
Family:
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
genes like me logo Genes that share domains with ABHD1: view

Function for ABHD1 Gene

Enzyme Numbers (IUBMB) for ABHD1 Gene

Phenotypes From GWAS Catalog for ABHD1 Gene

Gene Ontology (GO) - Molecular Function for ABHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
GO:0016298 lipase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0047372 acylglycerol lipase activity IBA 21873635
genes like me logo Genes that share ontologies with ABHD1: view
genes like me logo Genes that share phenotypes with ABHD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD1

No data available for Molecular function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD1 Gene

Localization for ABHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD1 gene
Compartment Confidence
plasma membrane 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ABHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 12735795
genes like me logo Genes that share ontologies with ABHD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABHD1 Gene

Pathways & Interactions for ABHD1 Gene

PathCards logo

SuperPathways for ABHD1 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for ABHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0044255 cellular lipid metabolic process IBA 21873635
genes like me logo Genes that share ontologies with ABHD1: view

No data available for Pathways by source and SIGNOR curated interactions for ABHD1 Gene

Drugs & Compounds for ABHD1 Gene

No Compound Related Data Available

Transcripts for ABHD1 Gene

mRNA/cDNA for ABHD1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD1

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8
SP1: -
SP2: - - - -
SP3: - -
SP4:
SP5:

Relevant External Links for ABHD1 Gene

GeneLoc Exon Structure for
ABHD1

Expression for ABHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD1 Gene

mRNA differential expression in normal tissues according to GTEx for ABHD1 Gene

This gene is overexpressed in Testis (x30.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD1

SOURCE GeneReport for Unigene cluster for ABHD1 Gene:

Hs.375791

mRNA Expression by UniProt/SwissProt for ABHD1 Gene:

Q96SE0-ABHD1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for ABHD1 Gene

  • Nervous system(4.1)
  • Lung(4)
genes like me logo Genes that share expression patterns with ABHD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD1 Gene

Orthologs for ABHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD1 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD1 31 30
  • 84.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD1 31 30
  • 82.59 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd1 30
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD1 31
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 43 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ABHD1 31
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia abhd1-prov 30
zebrafish
(Danio rerio)
Actinopterygii si:dkey-230a20.2 31
  • 22 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hydr1 31
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y60A3A.7 31
  • 32 (a)
ManyToMany
C44C1.5 31
  • 32 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06039g 30
  • 43.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR210W 30
  • 42.37 (n)
EHT1 31
  • 21 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
EEB1 31
  • 21 (a)
ManyToMany
MGL2 33
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR149C 30
  • 42.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G34340 30
  • 42.14 (n)
rice
(Oryza sativa)
Liliopsida Os05g0432600 30
  • 44.06 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01302 30
  • 43.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2629 31
  • 32 (a)
OneToMany
Species where no ortholog for ABHD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABHD1 Gene

ENSEMBL:
Gene Tree for ABHD1 (if available)
TreeFam:
Gene Tree for ABHD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD1: view image

Paralogs for ABHD1 Gene

Paralogs for ABHD1 Gene

(1) SIMAP similar genes for ABHD1 Gene using alignment to 5 proteins:

  • ABHD1_HUMAN
  • B3KSF6_HUMAN
  • C9J8C2_HUMAN
  • E9PDR9_HUMAN
  • F8WBB3_HUMAN
genes like me logo Genes that share paralogs with ABHD1: view

Variants for ABHD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs2304678 - p.Trp371Cys
rs34127901 - p.Pro54Gln
rs6715286 - p.Asp137Glu

Additional dbSNP identifiers (rs#s) for ABHD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ABHD1 Gene

Variant ID Type Subtype PubMed ID
dgv6744n54 CNV loss 21841781
nsv455974 CNV loss 19166990
nsv817673 CNV gain 17921354
nsv833603 CNV loss 17160897

Variation tolerance for ABHD1 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD1 Gene

Disorders for ABHD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards
Search ABHD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABHD1

genes like me logo Genes that share disorders with ABHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD1 Gene

Publications for ABHD1 Gene

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. (PMID: 12735795) Edgar AJ (BMC genomics 2003) 3 4 54
  5. Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. (PMID: 11922611) Edgar AJ … Polak JM (Biochemical and biophysical research communications 2002) 2 3 54

Products for ABHD1 Gene

Sources for ABHD1 Gene