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Aliases for ABHD17B Gene

Aliases for ABHD17B Gene

  • Abhydrolase Domain Containing 17B 2 3 5
  • Alpha/Beta Hydrolase Domain-Containing Protein 17B 3 4
  • Family With Sequence Similarity 108, Member B1 2 3
  • Abhydrolase Domain-Containing Protein 17B 3 4
  • FAM108B1 3 4
  • C9orf77 3 4
  • Abhydrolase Domain-Containing Protein FAM108B1 3
  • Chromosome 9 Open Reading Frame 77 2
  • Protein ABHD17B 3
  • EC 3.-.-.- 4
  • CGI-67 3

External Ids for ABHD17B Gene

Previous HGNC Symbols for ABHD17B Gene

  • C9orf77
  • FAM108B1

Previous GeneCards Identifiers for ABHD17B Gene

  • GC09M074478

Summaries for ABHD17B Gene

GeneCards Summary for ABHD17B Gene

ABHD17B (Abhydrolase Domain Containing 17B) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity and serine-type peptidase activity. An important paralog of this gene is ABHD17A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD17B Gene

Genomics for ABHD17B Gene

Regulatory Elements for ABHD17B Gene

Enhancers for ABHD17B 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
GH09F071791 1.6 FANTOM5 Ensembl ENCODE 12.8 +116.4 116366 6.1 PKNOX1 TBL1XR1 TEAD4 TEAD3 ZNF316 ETV6 MAFK RFX1 TEAD1 MTA2 TMEM2 ABHD17B C9orf85 LOC100420790 GC09P071678
GH09F071944 0.8 Ensembl ENCODE 11.6 -34.1 -34148 2.3 STAT1 C9orf85 ABHD17B GC09M071961 PIR47528
GH09F071961 0.2 ENCODE 11.5 -51.2 -51203 1.6 CTCF ESRRA RFX1 C9orf85 ABHD17B TMEM2 GC09M071961 HSPB1P1
GH09F071829 0.9 ENCODE 11.4 +81.2 81159 0.8 CEBPB ABHD17B C9orf85 TMEM2 ENSG00000281760
GH09F071826 0.6 ENCODE 11.4 +84.8 84794 0.2 GATA3 STAT1 CEBPB CUX1 DPF2 FOS EP300 ABHD17B C9orf85 TMEM2 ENSG00000281760
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ABHD17B on UCSC Golden Path with GeneCards custom track

Promoters for ABHD17B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001305500 233 4401 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for ABHD17B Gene

Chromosome:
9
Start:
71,862,452 bp from pter
End:
71,911,233 bp from pter
Size:
48,782 bases
Orientation:
Minus strand

Genomic View for ABHD17B Gene

Genes around ABHD17B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD17B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD17B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD17B Gene

Proteins for ABHD17B Gene

  • Protein details for ABHD17B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VST6-AB17B_HUMAN
    Recommended name:
    Protein ABHD17B
    Protein Accession:
    Q5VST6
    Secondary Accessions:
    • A8KAJ5
    • Q5VST7
    • Q86YB6
    • Q8IY03
    • Q9Y377

    Protein attributes for ABHD17B Gene

    Size:
    288 amino acids
    Molecular mass:
    32215 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD17B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD17B Gene

Post-translational modifications for ABHD17B Gene

  • Ubiquitination at Lys 25, Lys 63, Lys 136, and Lys 278
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD17B Gene

Domains & Families for ABHD17B Gene

Gene Families for ABHD17B Gene

Protein Domains for ABHD17B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABHD17B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5VST6

UniProtKB/Swiss-Prot:

AB17B_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 ABHD17B: view

Function for ABHD17B Gene

Enzyme Numbers (IUBMB) for ABHD17B Gene

Gene Ontology (GO) - Molecular Function for ABHD17B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ABHD17B: view
genes like me logo Genes that share phenotypes with ABHD17B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD17B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD17B Gene

Localization for ABHD17B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD17B Gene

Secreted.

Gene Ontology (GO) - Cellular Components for ABHD17B 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 ABHD17B: view

No data available for Subcellular locations from COMPARTMENTS for ABHD17B Gene

Pathways & Interactions for ABHD17B Gene

SuperPathways for ABHD17B Gene

No Data Available

Interacting Proteins for ABHD17B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000366240%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q5VST6-AB17B_HUMAN ENSP00000366240 for ABHD17B Gene via IID STRING

Gene Ontology (GO) - Biological Process for ABHD17B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ABHD17B Gene

Transcripts for ABHD17B Gene

Unigene Clusters for ABHD17B Gene

Abhydrolase domain containing 17B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD17B Gene

No ASD Table

Relevant External Links for ABHD17B Gene

GeneLoc Exon Structure for
ABHD17B
ECgene alternative splicing isoforms for
ABHD17B

Expression for ABHD17B Gene

mRNA expression in normal human tissues for ABHD17B Gene

Protein differential expression in normal tissues from HIPED for ABHD17B Gene

This gene is overexpressed in Breast (22.0) and Bone (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD17B Gene



NURSA nuclear receptor signaling pathways regulating expression of ABHD17B Gene:

ABHD17B

SOURCE GeneReport for Unigene cluster for ABHD17B Gene:

Hs.380389
genes like me logo Genes that share expression patterns with ABHD17B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ABHD17B Gene

Orthologs for ABHD17B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD17B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD17B 35
  • 100 (a)
OneToOne
FAM108B1 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia ABHD17B 35
  • 99 (a)
OneToOne
FAM108B1 34
  • 95.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD17B 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABHD17B 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM108B1 34 35
  • 95.14 (n)
rat
(Rattus norvegicus)
Mammalia Abhd17b 34
  • 91.78 (n)
mouse
(Mus musculus)
Mammalia Abhd17b 34 16 35
  • 90.97 (n)
chicken
(Gallus gallus)
Aves ABHD17B 34 35
  • 87.15 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD17B 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd17b 34
  • 81.25 (n)
Str.7572 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.30366 34
zebrafish
(Danio rerio)
Actinopterygii abhd17b 35
  • 92 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33096 35
  • 69 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F01D5.7 35
  • 32 (a)
ManyToMany
Y71G12A.4 35
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 19 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G13610 34
  • 55.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8399 35
  • 70 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.103 34
Species where no ortholog for ABHD17B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABHD17B Gene

ENSEMBL:
Gene Tree for ABHD17B (if available)
TreeFam:
Gene Tree for ABHD17B (if available)

Paralogs for ABHD17B Gene

Paralogs for ABHD17B Gene

(2) SIMAP similar genes for ABHD17B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ABHD17B: view

Variants for ABHD17B Gene

Sequence variations from dbSNP and Humsavar for ABHD17B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10122259 -- 71,862,266(+) GTCTG(C/T)GGCTA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs10123159 -- 71,902,599(+) AAGCT(C/G)GGAAG intron-variant
rs10529849 -- 71,890,137(+) AAATA(-/AATA)TTAGC intron-variant
rs10573097 -- 71,862,702(+) CTCTT(-/AAGA)TTTTG intron-variant
rs10580392 -- 71,912,063(+) AATTG(-/CA)CAGAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ABHD17B Gene

Variant ID Type Subtype PubMed ID
esv2555630 CNV deletion 19546169
esv2761535 CNV gain 21179565
nsv1050324 CNV gain 25217958
nsv831618 CNV loss 17160897

Variation tolerance for ABHD17B Gene

Residual Variation Intolerance Score: 33.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABHD17B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD17B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD17B Gene

Disorders for ABHD17B Gene

Relevant External Links for ABHD17B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABHD17B

No disorders were found for ABHD17B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD17B Gene

Publications for ABHD17B Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64

Products for ABHD17B Gene

Sources for ABHD17B Gene

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