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 rela... See more...

Aliases for ABHD14A-ACY1 Gene

Aliases for ABHD14A-ACY1 Gene

  • ABHD14A-ACY1 Readthrough 2 3 5 13
  • ABHD14A-ACY1 Readthrough (NMD Candidate) 2 3
  • ABHD14A-ACY1 Readthrough (Non-Protein Coding) 3
  • ABHD14A-ACY1 5

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 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD14A-ACY1 Gene

Genomics for ABHD14A-ACY1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD14A-ACY1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD14A-ACY1

Genomic Locations for ABHD14A-ACY1 Gene

Genomic Locations for ABHD14A-ACY1 Gene
chr3:51,974,706-51,989,197
(GRCh38/hg38)
Size:
14,492 bases
Orientation:
Plus strand
chr3:52,009,042-52,023,218
(GRCh37/hg19)
Size:
14,177 bases
Orientation:
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:
    A0A1B0GVC5-A0A1B0GVC5_HUMAN
    Recommended name:
    ABHD14A-ACY1 readthrough
    Protein Accession:
    A0A1B0GVC5

    Protein attributes for ABHD14A-ACY1 Gene

    Size:
    106 amino acids
    Molecular mass:
    11478 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
genes like me logo Genes that share domains with ABHD14A-ACY1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ABHD14A-ACY1 Gene

Function for ABHD14A-ACY1 Gene

Phenotypes From GWAS Catalog for ABHD14A-ACY1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0004046 aminoacylase activity IBA --
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

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

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

Localization for ABHD14A-ACY1 Gene

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 and Subcellular locations from COMPARTMENTS 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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000420487 for ABHD14A-ACY1 Gene via STRING

GPS-Prot Interaction Network for ABHD14A-ACY1

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 --
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 :
2 NCBI additional mRNA sequence :
29 Ensembl transcripts including schematic representations, and UCSC links to gene/alias 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
ABHD14A-ACY1

Expression for ABHD14A-ACY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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
Chimpanzee
(Pan troglodytes)
Mammalia ABHD14A-ACY1 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Acy1 31
  • 80 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 70 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ACY1 31
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 65 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii CU896698.1 31
  • 56 (a)
ManyToMany
acy1 31
  • 56 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG6465 31
  • 46 (a)
ManyToMany
CG17110 31
  • 45 (a)
ManyToMany
CG6726 31
  • 45 (a)
ManyToMany
CG6738 31
  • 42 (a)
ManyToMany
CG6733 31
  • 42 (a)
ManyToMany
CG17109 31
  • 41 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea C10C5.5 31
  • 45 (a)
ManyToMany
C06A6.4 31
  • 44 (a)
ManyToMany
C10C5.3 31
  • 44 (a)
ManyToMany
C10C5.4 31
  • 44 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8209 31
  • 48 (a)
OneToMany
Species where no ortholog for ABHD14A-ACY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for ABHD14A-ACY1 (if available)
TreeFam:
Gene Tree for ABHD14A-ACY1 (if available)
Aminode:
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:

  • C9JMV9_HUMAN
  • F2Z3Q0_HUMAN
genes like me logo Genes that share paralogs with ABHD14A-ACY1: view

Variants for ABHD14A-ACY1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD14A-ACY1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
709571 Likely Benign: not provided 51,988,948(+) G/A MISSENSE_VARIANT
712435 Conflicting Interpretations: Neurological conditions associated with aminoacylase 1 deficiency; not provided 51,989,004(+) C/T MISSENSE_VARIANT
720568 Likely Benign: not provided 51,988,778(+) G/A SYNONYMOUS_VARIANT
721267 Benign: not provided 51,984,145(+) C/G SYNONYMOUS_VARIANT
723173 Likely Benign: not provided 51,988,905(+) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ABHD14A-ACY1 Gene

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
ABHD14A-ACY1

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
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. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. (PMID: 31452512) Pech MF … Settleman J (eLife 2019) 3
  2. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 13

Products for ABHD14A-ACY1 Gene

Sources for ABHD14A-ACY1 Gene