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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
  • LABH1 3 4
  • Testicular Tissue Protein Li 5 3
  • Protein ABHD1 3
  • EC 3.1.1.- 4
  • EC 3.1.1 61

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. GO annotations related to this gene include carboxylic ester hydrolase activity. An important paralog of this gene is ABHD3.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD1 Gene

Genomics for ABHD1 Gene

Regulatory Elements for ABHD1 Gene

Enhancers for ABHD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027090 1.6 Ensembl ENCODE dbSUPER 11.1 -29.9 -29865 6.6 HNRNPUL1 FOXA2 MLX CREB3L1 ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF766 KHK ZNF513 ABHD1 CGREF1 ATRAID SLC5A6 CAD PRR30 TCF23 PREB
GH02G027085 1.4 ENCODE dbSUPER 11 -36.3 -36294 4.8 HDGF MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 KHK SLC5A6 ATRAID ABHD1 CGREF1 PREB TRIM54 UCN MPV17 LOC100129724
GH02G027169 1.3 Ensembl ENCODE 11.2 +47.5 47489 2.9 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 ZNF263 SP5 ATRAID GTF3C2 TCF23 PRR30 PREB SLC5A6 ABHD1 CAD DNAJC5G SLC30A3
GH02G027164 0.7 ENCODE 11.3 +41.6 41577 1.1 PKNOX1 MTA2 GATAD2B DPF2 TBX21 RAD51 FOXK2 IKZF1 RELB PRDM10 GTF3C2 PRR30 PREB SLC5A6 ATRAID ABHD1 CGREF1 CAD KHK EMILIN1
GH02G027122 1 ENCODE 0.7 -0.1 -115 1.7 PKNOX1 ATF1 MLX AGO1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 TCF23 SLC5A6 ATRAID KHK EMILIN1 CAD CENPA SLC35F6 CGREF1 ABHD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD1 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114382 20 801 PKNOX1 ATF1 MLX AGO1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121

Genomic Location for ABHD1 Gene

Chromosome:
2
Start:
27,123,780 bp from pter
End:
27,130,991 bp from pter
Size:
7,212 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

Protein Domains for ABHD1 Gene

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

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 --
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IEA --
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

Clone Products

Flow Cytometry Products

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
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

Pathways & Interactions for ABHD1 Gene

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 --
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

Transcripts for ABHD1 Gene

Unigene Clusters for ABHD1 Gene

Abhydrolase domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
ABHD1

Expression for ABHD1 Gene

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

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

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

NURSA nuclear receptor signaling pathways regulating expression of ABHD1 Gene:

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

Primer Products

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 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ABHD1 34 35
  • 84.77 (n)
cow
(Bos Taurus)
Mammalia ABHD1 34 35
  • 82.59 (n)
rat
(Rattus norvegicus)
Mammalia Abhd1 34
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD1 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 43 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ABHD1 35
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia abhd1-prov 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-230a20.2 35
  • 22 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hydr1 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C44C1.5 35
  • 32 (a)
ManyToMany
Y60A3A.7 35
  • 32 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06039g 34
  • 43.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR210W 34
  • 42.37 (n)
-- 35
  • 21 (a)
ManyToMany
EEB1 35
  • 21 (a)
ManyToMany
EHT1 35
  • 21 (a)
ManyToMany
MGL2 37
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR149C 34
  • 42.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G34340 34
  • 42.14 (n)
rice
(Oryza sativa)
Liliopsida Os05g0432600 34
  • 44.06 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01302 34
  • 43.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2629 35
  • 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)

Paralogs for ABHD1 Gene

Paralogs for ABHD1 Gene

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

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

Variants for ABHD1 Gene

Sequence variations from dbSNP and Humsavar for ABHD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000318637 -- 27,124,425(+) TGGGT(C/G)ATGGC intron-variant
rs1000427670 -- 27,130,334(+) GCAGC(A/T)AGCCC intron-variant, downstream-variant-500B, reference, synonymous-codon, missense, utr-variant-3-prime
rs1000491521 -- 27,123,563(+) ACTCG(A/G)GGCGT upstream-variant-2KB
rs1001594786 -- 27,123,328(+) AGGGA(C/T)TGTAT upstream-variant-2KB
rs1001959894 -- 27,123,218(+) ACCTC(C/T)TATAT upstream-variant-2KB

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)

Relevant External Links for ABHD1 Gene

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

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

Disorders for ABHD1 Gene

Relevant External Links for ABHD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD1

No disorders were found for ABHD1 Gene.

No data available for MalaCards , 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 L.W. … Wilson R.K. (Nature 2005) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. (PMID: 12735795) Edgar A.J. (BMC Genomics 2003) 3 4 64
  5. Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. (PMID: 11922611) Edgar A.J. … Polak J.M. (Biochem. Biophys. Res. Commun. 2002) 2 3 64

Products for ABHD1 Gene

Sources for ABHD1 Gene

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