Aliases for ABHD14A Gene

Aliases for ABHD14A Gene

  • Abhydrolase Domain Containing 14A 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 14A 3 4
  • Abhydrolase Domain-Containing Protein 14A 3 4
  • Protein ABHD14A 3 4
  • EC 3.-.-.- 4
  • DORZ1 3

External Ids for ABHD14A Gene

Previous GeneCards Identifiers for ABHD14A Gene

  • GC03P051985
  • GC03P052005

Summaries for ABHD14A Gene

GeneCards Summary for ABHD14A Gene

ABHD14A (Abhydrolase Domain Containing 14A) is a Protein Coding gene. Diseases associated with ABHD14A include Chanarin-Dorfman Syndrome and Autosomal Recessive Non-Syndromic Intellectual Disability. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD14B.

UniProtKB/Swiss-Prot Summary for ABHD14A Gene

Additional gene information for ABHD14A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD14A Gene

Genomics for ABHD14A Gene

GeneHancer (GH) Regulatory Elements for ABHD14A Gene

Promoters and enhancers for ABHD14A 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
GH03J051973 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +3.3 3275 5 CTCF SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 ZFX ZBTB5 ZIC2 ABHD14A ABHD14A-ACY1 ENSG00000272762 PCBP4 ABHD14B PARP3 NT5DC2 RPL29
GH03J051978 Promoter 0.5 EPDnew 500.4 +6.4 6424 0.1 NFIC ZBTB33 ABHD14A PARP3 ABHD14A-ACY1 ABHD14B ACY1
GH03J051940 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.2 -29.3 -29261 3.5 RXRA FOXK2 ZBTB40 EP300 CTCF SIN3A NRF1 POLR2G USF1 SP1 PARP3 RRP9 ABHD14A RPL29
GH03J052108 Enhancer 1 FANTOM5 ENCODE dbSUPER 11.1 +138.1 138061 2.9 EP300 CTCF REST MXI1 NCOR1 NR2F2 ATF4 RAD21 CHD2 GATA2 DUSP7 ABHD14B ABHD14A PCBP4 ABHD14A-ACY1 GPR62 GLYCTK WDR82 MIR135A1 GLYCTK-AS1
GH03J052019 Enhancer 0.6 dbSUPER 9.8 +48.2 48230 1.5 NR2F2 MEF2B ZFHX2 E2F6 EBF1 IKZF1 NR2F1 TBX21 ZBTB33 ZNF217 RF00017-4012 ABHD14A DUSP7 NT5DC2 HSALNG0026106
- 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 on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the ABHD14A gene promoter:
  • GR
  • HNF-4alpha1
  • HNF-4alpha2
  • MAZR
  • MZF-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for ABHD14A Gene

Genomic Locations for ABHD14A Gene
chr3:51,971,426-51,981,200
(GRCh38/hg38)
Size:
9,775 bases
Orientation:
Plus strand
chr3:52,005,442-52,015,216
(GRCh37/hg19)
Size:
9,775 bases
Orientation:
Plus strand

Genomic View for ABHD14A Gene

Genes around ABHD14A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD14A 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 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD14A Gene

Proteins for ABHD14A Gene

  • Protein details for ABHD14A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUJ0-ABHEA_HUMAN
    Recommended name:
    Protein ABHD14A
    Protein Accession:
    Q9BUJ0
    Secondary Accessions:
    • Q6UXU8
    • Q9Y3T7

    Protein attributes for ABHD14A Gene

    Size:
    271 amino acids
    Molecular mass:
    29765 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88568.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ABHD14A Gene

Post-translational modifications for ABHD14A Gene

  • Glycosylation at Asn67 and Asn201
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD14A Gene

No data available for DME Specific Peptides for ABHD14A Gene

Domains & Families for ABHD14A Gene

Gene Families for ABHD14A Gene

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

Protein Domains for ABHD14A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD14A Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein 14A (ABHEA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BUJ0

UniProtKB/Swiss-Prot:

ABHEA_HUMAN :
  • Belongs to the AB hydrolase superfamily. ABHD14 family.
Family:
  • Belongs to the AB hydrolase superfamily. ABHD14 family.
genes like me logo Genes that share domains with ABHD14A: view

Function for ABHD14A Gene

Molecular function for ABHD14A Gene

UniProtKB/Swiss-Prot Function:
Possible role in granule neuron development.

Enzyme Numbers (IUBMB) for ABHD14A Gene

Phenotypes From GWAS Catalog for ABHD14A Gene

Gene Ontology (GO) - Molecular Function for ABHD14A Gene

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

Animal Models for ABHD14A Gene

MGI Knock Outs for ABHD14A:
  • Abhd14a Abhd14a<tm2a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD14A Gene

Localization for ABHD14A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD14A Gene

Cytoplasm. 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 ABHD14A gene
Compartment Confidence
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ABHD14A: view

Pathways & Interactions for ABHD14A Gene

PathCards logo

SuperPathways for ABHD14A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABHD14A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ABHD14A Gene

Drugs & Compounds for ABHD14A Gene

No Compound Related Data Available

Transcripts for ABHD14A Gene

mRNA/cDNA for ABHD14A Gene

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

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for ABHD14A Gene

GeneLoc Exon Structure for
ABHD14A

Expression for ABHD14A Gene

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

Protein differential expression in normal tissues from HIPED for ABHD14A Gene

This gene is overexpressed in Urine (69.0).

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



Protein tissue co-expression partners for ABHD14A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD14A

SOURCE GeneReport for Unigene cluster for ABHD14A Gene:

Hs.534400

Evidence on tissue expression from TISSUES for ABHD14A Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with ABHD14A: view

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

Orthologs for ABHD14A Gene

This gene was present in the common ancestor of animals.

Orthologs for ABHD14A Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ABHD14A 31 30
  • 91.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD14A 30
  • 88.93 (n)
rat
(Rattus norvegicus)
Mammalia Abhd14a 30
  • 84.16 (n)
mouse
(Mus musculus)
Mammalia Abhd14a 17 31 30
  • 83.4 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD14A 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD14A 31
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD14A 31
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd14a 30
  • 57.32 (n)
zebrafish
(Danio rerio)
Actinopterygii abhd14a 31 30
  • 61.35 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.10 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
ManyToMany
CSA.1288 31
  • 31 (a)
ManyToMany
Species where no ortholog for ABHD14A 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ABHD14A Gene

ENSEMBL:
Gene Tree for ABHD14A (if available)
TreeFam:
Gene Tree for ABHD14A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD14A: view image

Paralogs for ABHD14A Gene

Paralogs for ABHD14A Gene

(2) SIMAP similar genes for ABHD14A Gene using alignment to 4 proteins:

  • ABHEA_HUMAN
  • C9IYJ8_HUMAN
  • C9J7W8_HUMAN
  • C9JMW6_HUMAN
genes like me logo Genes that share paralogs with ABHD14A: view

Variants for ABHD14A Gene

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

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs17849626 - p.Arg32Gln
rs404527 - p.Cys61Trp

Additional dbSNP identifiers (rs#s) for ABHD14A Gene

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

Residual Variation Intolerance Score: 86.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.84; 67.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD14A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD14A

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

Disorders for ABHD14A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ABHD14A Gene - From: DISEASES

Disorder Aliases PubMed IDs
chanarin-dorfman syndrome
  • cds
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ABHD14A

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

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

Publications for ABHD14A Gene

  1. 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
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for ABHD14A Gene

Sources for ABHD14A Gene