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Aliases for ABHD14A-ACY1 Gene

Aliases for ABHD14A-ACY1 Gene

  • ABHD14A-ACY1 Readthrough 2 3 5
  • ABHD14A-ACY1 Readthrough (NMD Candidate) 2 3
  • ABHD14A-ACY1 Readthrough (Non-Protein Coding) 3

External Ids for ABHD14A-ACY1 Gene

Previous GeneCards Identifiers for ABHD14A-ACY1 Gene

  • GC03U901707
  • GC03M051997
  • GC03P052012

Summaries for ABHD14A-ACY1 Gene

Entrez Gene Summary for ABHD14A-ACY1 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the use of an alternate start codon relative to the upstream gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for ABHD14A-ACY1 Gene

ABHD14A-ACY1 (ABHD14A-ACY1 Readthrough) is a Protein Coding gene. Diseases associated with ABHD14A-ACY1 include Aminoacylase 1 Deficiency. Among its related pathways are Arginine biosynthesis and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and aminoacylase activity. An important paralog of this gene is ACY1.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD14A-ACY1 Gene

Genomics for ABHD14A-ACY1 Gene

GeneHancer (GH) Regulatory Elements for ABHD14A-ACY1 Gene

Promoters and enhancers for ABHD14A-ACY1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J051973 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 650.7 +0.4 403 3.8 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 SP3 SP5 ABHD14A ABHD14A-ACY1 ENSG00000272762 PCBP4 ABHD14B PARP3 NT5DC2 ACY1
GH03J052153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 +179.8 179759 2.6 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B POC1A RRP9 RAD54L2 PBRM1 RFT1 DUSP7 ABHD14A-ACY1 ABHD14B PCBP4 ACY1
GH03J052108 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +134.8 134781 2.9 CTCF ATF4 RFX1 NCOR1 SCRT2 REST CHD2 NR2F2 DUSP7 ABHD14B ABHD14A PCBP4 ABHD14A-ACY1 GPR62 GLYCTK WDR82 MIR135A1 GLYCTK-AS1
GH03J051794 Enhancer 0.2 ENCODE 9.6 -180.3 -180336 0.2 GC03P051793 IQCF3 IQCF4 IQCF5 ABHD14A-ACY1 ABHD14B ABHD14A PCBP4 LOC105377087
GH03J051980 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 0.4 +9.5 9498 6.8 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ABHD14B ACY1 GPR62 PARP3 RPL29 ABHD14A-ACY1 ABHD14A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD14A-ACY1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABHD14A-ACY1 Gene

Genomic Locations for ABHD14A-ACY1 Gene
14,497 bases
Plus strand
14,177 bases
Plus strand

Genomic View for ABHD14A-ACY1 Gene

Genes around ABHD14A-ACY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD14A-ACY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD14A-ACY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD14A-ACY1 Gene

Proteins for ABHD14A-ACY1 Gene

  • Protein details for ABHD14A-ACY1 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Recommended name:
    ABHD14A-ACY1 readthrough
    Protein Accession:

    Protein attributes for ABHD14A-ACY1 Gene

    509 amino acids
    Molecular mass:
    56436 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD14A-ACY1 Gene

Post-translational modifications for ABHD14A-ACY1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ABHD14A-ACY1 Gene

Domains & Families for ABHD14A-ACY1 Gene

Gene Families for ABHD14A-ACY1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ABHD14A-ACY1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ABHD14A-ACY1 Gene

Function for ABHD14A-ACY1 Gene

Gene Ontology (GO) - Molecular Function for ABHD14A-ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD14A-ACY1: view

Phenotypes for ABHD14A-ACY1 Gene

genes like me logo Genes that share phenotypes with ABHD14A-ACY1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD14A-ACY1 Gene

Localization for ABHD14A-ACY1 Gene

Subcellular locations from

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 ABHD14A-ACY1 gene
Compartment Confidence
extracellular 3
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD14A-ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ABHD14A-ACY1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ABHD14A-ACY1 Gene

Pathways & Interactions for ABHD14A-ACY1 Gene

genes like me logo Genes that share pathways with ABHD14A-ACY1: view

Pathways by source for ABHD14A-ACY1 Gene

Interacting Proteins for ABHD14A-ACY1 Gene

Gene Ontology (GO) - Biological Process for ABHD14A-ACY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006520 cellular amino acid metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABHD14A-ACY1: view

No data available for SIGNOR curated interactions for ABHD14A-ACY1 Gene

Drugs & Compounds for ABHD14A-ACY1 Gene

No Compound Related Data Available

Transcripts for ABHD14A-ACY1 Gene

mRNA/cDNA for ABHD14A-ACY1 Gene

(1) REFSEQ mRNAs :
(29) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD14A-ACY1 Gene

No ASD Table

Relevant External Links for ABHD14A-ACY1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ABHD14A-ACY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD14A-ACY1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for ABHD14A-ACY1 Gene

genes like me logo Genes that share expression patterns with ABHD14A-ACY1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD14A-ACY1 Gene

Orthologs for ABHD14A-ACY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABHD14A-ACY1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ABHD14A-ACY1 34
  • 99 (a)
(Canis familiaris)
Mammalia -- 34
  • 83 (a)
(Mus musculus)
Mammalia Acy1 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
(Bos Taurus)
Mammalia ACY1 34
  • 68 (a)
(Gallus gallus)
Aves -- 34
  • 65 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 61 (a)
(Danio rerio)
Actinopterygii CU896698.1 34
  • 56 (a)
acy1 34
  • 56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6465 34
  • 46 (a)
CG17110 34
  • 45 (a)
CG6726 34
  • 45 (a)
CG6738 34
  • 42 (a)
CG6733 34
  • 42 (a)
CG17109 34
  • 41 (a)
(Caenorhabditis elegans)
Secernentea C10C5.5 34
  • 45 (a)
C06A6.4 34
  • 44 (a)
C10C5.3 34
  • 44 (a)
C10C5.4 34
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8209 34
  • 48 (a)
Species where no ortholog for ABHD14A-ACY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABHD14A-ACY1 Gene

Gene Tree for ABHD14A-ACY1 (if available)
Gene Tree for ABHD14A-ACY1 (if available)
Evolutionary constrained regions (ECRs) for ABHD14A-ACY1: view image

Paralogs for ABHD14A-ACY1 Gene

Paralogs for ABHD14A-ACY1 Gene

(2) SIMAP similar genes for ABHD14A-ACY1 Gene using alignment to 2 proteins:

  • F2Z3Q0_HUMAN
genes like me logo Genes that share paralogs with ABHD14A-ACY1: view

Variants for ABHD14A-ACY1 Gene

Sequence variations from dbSNP and Humsavar for ABHD14A-ACY1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs121912698 pathogenic, uncertain-significance, Aminoacylase 1 deficiency, not specified, not provided 51,988,821(+) C/T coding_sequence_variant, missense_variant
rs121912699 pathogenic, Aminoacylase 1 deficiency 51,987,188(+) A/C coding_sequence_variant, missense_variant
rs121912700 pathogenic, Aminoacylase 1 deficiency 51,986,993(+) C/T coding_sequence_variant, missense_variant
rs121912701 pathogenic, benign, uncertain-significance, Aminoacylase 1 deficiency, not specified, not provided 51,989,026(+) G/A coding_sequence_variant, missense_variant
rs387906579 pathogenic, Aminoacylase 1 deficiency 51,988,949(+) CACAC/CACACAC coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ABHD14A-ACY1 Gene

Variant ID Type Subtype PubMed ID
nsv1003453 CNV gain 25217958
nsv508922 CNV insertion 20534489
nsv519445 CNV gain+loss 19592680
nsv520211 CNV gain 19592680
nsv954857 CNV deletion 24416366

Variation tolerance for ABHD14A-ACY1 Gene

Gene Damage Index Score: 2.94; 49.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD14A-ACY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD14A-ACY1 Gene

Disorders for ABHD14A-ACY1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABHD14A-ACY1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
aminoacylase 1 deficiency
  • acy1d
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABHD14A-ACY1

genes like me logo Genes that share disorders with ABHD14A-ACY1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABHD14A-ACY1 Gene

Publications for ABHD14A-ACY1 Gene

  1. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58

Products for ABHD14A-ACY1 Gene

Sources for ABHD14A-ACY1 Gene

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