Aliases for ABHD17A Gene

Aliases for ABHD17A Gene

  • Abhydrolase Domain Containing 17A, Depalmitoylase 2 3
  • Abhydrolase Domain Containing 17A 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 17A 3 4
  • Family With Sequence Similarity 108, Member A1 2 3
  • Abhydrolase Domain-Containing Protein 17A 3 4
  • C19orf27 3 4
  • FAM108A1 3 4
  • Abhydrolase Domain-Containing Protein FAM108A1 3
  • Chromosome 19 Open Reading Frame 27 2
  • Protein ABHD17A 3
  • EC 3.1.2.22 4
  • ABHD17A 5
  • MGC5244 2

External Ids for ABHD17A Gene

Previous HGNC Symbols for ABHD17A Gene

  • C19orf27
  • FAM108A1

Summaries for ABHD17A Gene

GeneCards Summary for ABHD17A Gene

ABHD17A (Abhydrolase Domain Containing 17A, Depalmitoylase) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD17C.

UniProtKB/Swiss-Prot Summary for ABHD17A Gene

  • Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity).

Additional gene information for ABHD17A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD17A Gene

Genomics for ABHD17A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD17A 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 ABHD17A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD17A

Genomic Locations for ABHD17A Gene

Genomic Locations for ABHD17A Gene
chr19:1,876,810-1,885,547
(GRCh38/hg38)
Size:
8,738 bases
Orientation:
Minus strand
chr19:1,876,809-1,885,546
(GRCh37/hg19)
Size:
8,738 bases
Orientation:
Minus strand

Genomic View for ABHD17A Gene

Genes around ABHD17A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD17A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD17A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD17A Gene

Proteins for ABHD17A Gene

  • Protein details for ABHD17A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GS6-AB17A_HUMAN
    Recommended name:
    Alpha/beta hydrolase domain-containing protein 17A
    Protein Accession:
    Q96GS6
    Secondary Accessions:
    • A8K0G8
    • D6W5Z9
    • Q6PJU2
    • Q8WUH9
    • Q9BWL0
    • Q9H7Q9

    Protein attributes for ABHD17A Gene

    Size:
    310 amino acids
    Molecular mass:
    33990 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15709.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB84869.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC03419.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ABHD17A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD17A Gene

Post-translational modifications for ABHD17A Gene

  • Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization (PubMed:26701913). Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95 (By similarity).
  • Ubiquitination at Lys92
  • Modification sites at PhosphoSitePlus

Other Protein References for ABHD17A Gene

No data available for DME Specific Peptides for ABHD17A Gene

Domains & Families for ABHD17A Gene

Gene Families for ABHD17A Gene

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

Protein Domains for ABHD17A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD17A Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein FAM108A1 (F18A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GS6

UniProtKB/Swiss-Prot:

AB17A_HUMAN :
  • Belongs to the AB hydrolase superfamily. ABHD17 family.
Family:
  • Belongs to the AB hydrolase superfamily. ABHD17 family.
genes like me logo Genes that share domains with ABHD17A: view

Function for ABHD17A Gene

Molecular function for ABHD17A Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes fatty acids from S-acylated cysteine residues in proteins (PubMed:26701913). Has depalmitoylating activity towards NRAS (PubMed:26701913). Has depalmitoylating activity towards DLG4/PSD95 (PubMed:26701913). May have depalmitoylating activity towards MAP6 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + S-hexadecanoyl-L-cysteinyl-[protein] = H(+) + hexadecanoate + L-cysteinyl-[protein]; Xref=Rhea:RHEA:19233, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11032, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:74151; EC=3.1.2.22; Evidence={ECO:0000269|PubMed:26701913};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by palmostatin-B.

Enzyme Numbers (IUBMB) for ABHD17A Gene

Phenotypes From GWAS Catalog for ABHD17A Gene

Gene Ontology (GO) - Molecular Function for ABHD17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23088713
GO:0008474 palmitoyl-(protein) hydrolase activity IMP 26701913
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD17A: view
genes like me logo Genes that share phenotypes with ABHD17A: view

Animal Models for ABHD17A Gene

MGI Knock Outs for ABHD17A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD17A

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ABHD17A Gene

Localization for ABHD17A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD17A Gene

Cell membrane. Lipid-anchor. Cytoplasmic side. Endosome membrane. Lipid-anchor. Cytoplasmic side. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic density membrane.

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 ABHD17A gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ABHD17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005886 plasma membrane IEA,IDA 26701913
GO:0010008 endosome membrane IEA,IDA 26701913
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ABHD17A: view

Pathways & Interactions for ABHD17A Gene

PathCards logo

SuperPathways for ABHD17A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABHD17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation IEA,IBA 21873635
GO:0018345 protein palmitoylation IMP 26701913
GO:0072657 protein localization to membrane IMP 26701913
GO:0099175 regulation of postsynapse organization IEA,IBA 21873635
GO:1902817 negative regulation of protein localization to microtubule IEA --
genes like me logo Genes that share ontologies with ABHD17A: view

No data available for Pathways by source and SIGNOR curated interactions for ABHD17A Gene

Drugs & Compounds for ABHD17A Gene

No Compound Related Data Available

Transcripts for ABHD17A Gene

mRNA/cDNA for ABHD17A Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 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 ABHD17A

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD17A Gene

No ASD Table

Relevant External Links for ABHD17A Gene

GeneLoc Exon Structure for
ABHD17A

Expression for ABHD17A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD17A Gene

Protein differential expression in normal tissues from HIPED for ABHD17A Gene

This gene is overexpressed in Pancreas (14.4), Bone (12.9), Peripheral blood mononuclear cells (11.7), NK cells (8.7), Bone marrow mesenchymal stem cell (7.2), and CD8 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABHD17A Gene



Protein tissue co-expression partners for ABHD17A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD17A

SOURCE GeneReport for Unigene cluster for ABHD17A Gene:

Hs.465542

Evidence on tissue expression from TISSUES for ABHD17A Gene

  • Nervous system(4.4)
  • Spleen(4.3)
  • Muscle(4.3)
  • Skin(4.2)
  • Intestine(4.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with ABHD17A: 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 ABHD17A Gene

Orthologs for ABHD17A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD17A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM108A1 30
  • 99.46 (n)
ABHD17A 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ABHD17A 30 31
  • 91.18 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABHD17A 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ABHD17A 30 31
  • 90.11 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abhd17a 30 17 31
  • 87.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd17a 30
  • 87.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ABHD17A 31
  • 85 (a)
OneToOne
FAM108A1 30
  • 82.73 (n)
Lizard
(Anolis carolinensis)
Reptilia ABHD17A 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abhd17a 30
  • 69.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii abhd17ab 30 31
  • 76.45 (n)
OneToMany
abhd17aa 31
  • 76 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG33096 31
  • 68 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea aho-3 31
  • 51 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 23 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G14390 30
  • 51 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0286600 30
  • 54.09 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8399 31
  • 70 (a)
OneToMany
Species where no ortholog for ABHD17A 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)
  • 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ABHD17A Gene

ENSEMBL:
Gene Tree for ABHD17A (if available)
TreeFam:
Gene Tree for ABHD17A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD17A: view image

Paralogs for ABHD17A Gene

Paralogs for ABHD17A Gene

(2) SIMAP similar genes for ABHD17A Gene using alignment to 3 proteins:

  • AB17A_HUMAN
  • K7ENJ6_HUMAN
  • K7EQ25_HUMAN
genes like me logo Genes that share paralogs with ABHD17A: view

Variants for ABHD17A Gene

Additional dbSNP identifiers (rs#s) for ABHD17A Gene

Structural Variations from Database of Genomic Variants (DGV) for ABHD17A Gene

Variant ID Type Subtype PubMed ID
esv32942 CNV gain+loss 17666407
esv3893156 CNV loss 25118596
nsv1160560 CNV deletion 26073780
nsv1160561 CNV deletion 26073780
nsv470107 CNV loss 18288195
nsv482208 CNV gain 20164927
nsv578337 CNV gain 21841781
nsv953942 CNV deletion 24416366

Variation tolerance for ABHD17A Gene

Residual Variation Intolerance Score: 85.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD17A Gene

Human Gene Mutation Database (HGMD)
ABHD17A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD17A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD17A Gene

Disorders for ABHD17A Gene

Additional Disease Information for ABHD17A

No disorders were found for ABHD17A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD17A Gene

Publications for ABHD17A Gene

  1. ABHD17 proteins are novel protein depalmitoylases that regulate N-Ras palmitate turnover and subcellular localization. (PMID: 26701913) Lin DT … Conibear E (eLife 2015) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  3. Dynamic Palmitoylation Targets MAP6 to the Axon to Promote Microtubule Stabilization during Neuronal Polarization. (PMID: 28521134) Tortosa E … Hoogenraad CC (Neuron 2017) 2 3
  4. Identification of PSD-95 Depalmitoylating Enzymes. (PMID: 27307232) Yokoi N … Fukata M (The Journal of neuroscience : the official journal of the Society for Neuroscience 2016) 2 3
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4

Products for ABHD17A Gene

Sources for ABHD17A Gene