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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. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD17C.

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

Regulatory Elements for ABHD17A Gene

Enhancers for ABHD17A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G002038 2.2 FANTOM5 Ensembl ENCODE dbSUPER 4.5 -165.5 -165479 24.2 CREB3L1 MLX AGO1 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SF3A2 LOC100288123 MKNK2 ZNF77 BTBD2 ENSG00000268798 CIRBP PLK5 RPS15 C19orf35
GH19G001872 1.4 ENCODE dbSUPER 5.3 +10.9 10897 4.8 HDGF PKNOX1 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 FEZF1 C19orf24 SCAMP4 ENSG00000261526 REXO1 ABHD17A LOC100288123 ENSG00000267232 KLF16
GH19G002288 1.2 ENCODE dbSUPER 5.3 -404.0 -404048 2.1 HDGF ATF1 FOXA2 MLX ARID4B KLF13 NCOA1 MXD4 JUNB PPARG ZNF77 SF3A2 LOC100288123 ENSG00000267139 ZNF555 ENSG00000261526 ENSG00000267317 TIMM13 ABHD17A GC19M002288
GH19G001406 2 FANTOM5 Ensembl ENCODE dbSUPER 1.4 +472.7 472718 13.5 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SF3A2 TMEM259 LOC100288123 ENSG00000267317 RPS15 CIRBP GRIN3B TCF3 POLRMT MED16
GH19G001881 1.3 ENCODE dbSUPER 0.7 +1.6 1616 4.4 HDGF PKNOX1 ATF1 ARID4B SIN3A BRCA1 YY1 ETS1 GLIS2 ELK1 R3HDM4 REXO1 LOC100288123 MOB3A ABHD17A GC19M001875
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD17A on UCSC Golden Path with GeneCards custom track

Promoters for ABHD17A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105765 347 1201 HDGF PKNOX1 ATF1 ARID4B SIN3A BRCA1 YY1 GLIS2 ELK1 ZNF207

Genomic Location for ABHD17A Gene

Chromosome:
19
Start:
1,876,810 bp from pter
End:
1,885,547 bp from pter
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:
    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

  • 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

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

Gene Ontology (GO) - Molecular Function for ABHD17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23088713
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

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
extracellular 4
plasma membrane 2
nucleus 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ABHD17A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane 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:0008150 biological_process ND --
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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34
  • 99.46 (n)
ABHD17A 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD17A 34 35
  • 91.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD17A 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD17A 34 35
  • 90.11 (n)
mouse
(Mus musculus)
Mammalia Abhd17a 34 16 35
  • 87.85 (n)
rat
(Rattus norvegicus)
Mammalia Abhd17a 34
  • 87.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABHD17A 35
  • 85 (a)
OneToOne
FAM108A1 34
  • 82.73 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD17A 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd17a 34
  • 69.19 (n)
zebrafish
(Danio rerio)
Actinopterygii abhd17ab 34 35
  • 76.45 (n)
abhd17aa 35
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG33096 35
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aho-3 35
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G14390 34
  • 51 (n)
rice
(Oryza sativa)
Liliopsida Os12g0286600 34
  • 54.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8399 35
  • 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 Sequence Context AA Info Type
rs1000163913 -- 1,883,543(+) ACCCC(A/G)GAGAC intron-variant, utr-variant-5-prime
rs1000166358 -- 1,878,922(+) GTGGC(A/C)GCAGG intron-variant, utr-variant-5-prime
rs1000189507 -- 1,886,753(+) CAAGA(C/T)CATCC upstream-variant-2KB
rs1000607602 -- 1,883,855(+) ATTAT(C/T)CCCTG intron-variant, utr-variant-5-prime
rs1000728779 -- 1,879,060(+) ACTGC(C/T)GGGAG intron-variant, utr-variant-5-prime

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)

Relevant External Links for ABHD17A Gene

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

Relevant External Links for ABHD17A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 2 3 4 64
  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 Res. 2005) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Protein interactions of the transcription factor Hoxa1. (PMID: 23088713) Lambert B. … Rezsohazy R. (BMC Dev. Biol. 2012) 3 64

Products for ABHD17A Gene

Sources for ABHD17A Gene

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