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Aliases for ABHD17A Gene

Aliases for ABHD17A Gene

  • 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.-.-.- 4

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) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD17C.

Additional gene information for ABHD17A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD17A Gene

Genomics for ABHD17A Gene

GeneHancer (GH) Regulatory Elements for ABHD17A Gene

Promoters and enhancers for ABHD17A 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
GH19I001881 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.6 1616 4.4 HDGF PKNOX1 ATF1 ARID4B SIN3A BRCA1 ETS1 GLIS2 ELK1 ZNF207 ABHD17A R3HDM4 REXO1 LOC100288123 MOB3A GC19M001875
GH19I002038 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 -165.5 -165478 24.2 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 NFYC MKNK2 SF3A2 DAZAP1 ZNF77 TCF3 CIRBP LOC100288123 MUM1 DOT1L LMNB2
GH19I001872 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 5.3 +10.8 10832 5 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ENSG00000261526 ENSG00000267232 GC19M001875 SF3A2 TMEM259 LOC100288123 DAZAP1 TCF3 ENSG00000267317 MED16
GH19I002288 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 5.3 -404.0 -404048 2.1 HDGF ATF1 FOXA2 MLX ARID4B ATF7 RUNX3 JUNB REST PPARG GC19M002288 ZNF77 AP3D1 MUM1 SPPL2B LSM7 ZNF555 ENSG00000261526 TIMM13 ABHD17A
GH19I001406 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.4 +472.7 472717 13.5 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D DAZAP1 TCF3 SF3A2 TMEM259 PTBP1 LOC100288123 GRIN3B RPS15 ENSG00000267317 CIRBP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD17A on UCSC Golden Path with GeneCards custom track

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)

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:
    Protein ABHD17A
    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

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):
  • Predicted intracellular proteins

Protein Domains for ABHD17A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD17A Gene

GenScript: Design optimal peptide antigens:

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

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 IEA,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

Clone Products

No data available for Molecular function , 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

Secreted.

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 4
nucleus 2
mitochondrion 1
cytosol 1

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:0005576 extracellular region IEA --
GO:0005886 plasma membrane IDA,IEA 26701913
GO:0010008 endosome membrane IDA 26701913
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with ABHD17A: view

Pathways & Interactions for ABHD17A Gene

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 --
GO:0008150 biological_process ND --
GO:0018345 protein palmitoylation IMP 26701913
GO:0072657 protein localization to membrane IMP 26701913
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

Unigene Clusters for ABHD17A Gene

Abhydrolase domain containing 17A:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ABHD17A Gene

GeneLoc Exon Structure for
ABHD17A
ECgene alternative splicing isoforms for
ABHD17A

Expression for ABHD17A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ABHD17A Gene:

ABHD17A

SOURCE GeneReport for Unigene cluster for ABHD17A Gene:

Hs.465542

Evidence on tissue expression from TISSUES for ABHD17A Gene

  • Nervous system(4.4)
  • Muscle(4.3)
  • Spleen(4.3)
  • Intestine(4.2)
  • Skin(4.1)
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 33
  • 99.46 (n)
ABHD17A 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD17A 33 34
  • 91.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD17A 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD17A 33 34
  • 90.11 (n)
mouse
(Mus musculus)
Mammalia Abhd17a 33 16 34
  • 87.85 (n)
rat
(Rattus norvegicus)
Mammalia Abhd17a 33
  • 87.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABHD17A 34
  • 85 (a)
OneToOne
FAM108A1 33
  • 82.73 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD17A 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd17a 33
  • 69.19 (n)
zebrafish
(Danio rerio)
Actinopterygii abhd17ab 33 34
  • 76.45 (n)
abhd17aa 34
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG33096 34
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aho-3 34
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G14390 33
  • 51 (n)
rice
(Oryza sativa)
Liliopsida Os12g0286600 33
  • 54.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8399 34
  • 70 (a)
OneToMany
Species where no ortholog for ABHD17A 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)
  • 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 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)

Paralogs for ABHD17A Gene

Paralogs for ABHD17A Gene

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

genes like me logo Genes that share paralogs with ABHD17A: view

Variants for ABHD17A Gene

Sequence variations from dbSNP and Humsavar for ABHD17A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000163913 -- 1,883,543(-) G/A 5_prime_UTR_variant, intron_variant
rs1000166358 -- 1,878,922(-) A/C/G 5_prime_UTR_variant, intron_variant
rs1000189507 -- 1,886,753(-) C/T upstream_transcript_variant
rs1000607602 -- 1,883,855(-) T/C 5_prime_UTR_variant, intron_variant
rs1000728779 -- 1,879,060(-) T/C 5_prime_UTR_variant, intron_variant

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

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

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 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  2. 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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. ABHD17 proteins are novel protein depalmitoylases that regulate N-Ras palmitate turnover and subcellular localization. (PMID: 26701913) Lin DT … Conibear E (eLife 2015) 3 58

Products for ABHD17A Gene

Sources for ABHD17A Gene

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