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    ABHD17A abhydrolase domain containing 17A, depalmitoylase [ Homo sapiens (human) ]

    Gene ID: 81926, updated on 13-Apr-2024

    Summary

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    Official Symbol
    ABHD17Aprovided by HGNC
    Official Full Name
    abhydrolase domain containing 17A, depalmitoylaseprovided by HGNC
    Primary source
    HGNC:HGNC:28756
    See related
    Ensembl:ENSG00000129968 MIM:617942; AllianceGenome:HGNC:28756
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C19orf27; FAM108A1
    Summary
    Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1876810..1885496, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1848130..1856816, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1876809..1885495, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100288123 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1827207-1827342 Neighboring gene RNA exonuclease 1 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1828468-1828968 Neighboring gene MPRA-validated peak3226 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1834459-1835425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1835426-1836391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1837058-1838052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1853940-1854496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1854497-1855054 Neighboring gene Sharpr-MPRA regulatory region 8340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1861121-1862006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9749 Neighboring gene KLF16 promoter region Neighboring gene KLF transcription factor 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1865114-1865668 Neighboring gene KLF16-I enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1873541-1874256 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:1875445-1876145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1876146-1876845 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1876846-1877546 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1884760-1884907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1887074-1887578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1887579-1888084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1897455-1898150 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1898955-1899127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1907977-1908788 Neighboring gene secretory carrier membrane protein 4 Neighboring gene adenosine deaminase tRNA specific 3 Neighboring gene Sharpr-MPRA regulatory region 4132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13636 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1938387-1938587 Neighboring gene uncharacterized LOC105372238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9756

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Site-specific deacylation by ABHD17a controls BK channel splice variant activity. McClafferty H, et al. J Biol Chem, 2020 Dec 4. PMID 32913120, Free PMC Article
    2. ABHD17 proteins are novel protein depalmitoylases that regulate N-Ras palmitate turnover and subcellular localization. Lin DT, et al. Elife, 2015 Dec 23. PMID 26701913, Free PMC Article
    3. Dynamic Palmitoylation Targets MAP6 to the Axon to Promote Microtubule Stabilization during Neuronal Polarization. Tortosa E, et al. Neuron, 2017 May 17. PMID 28521134
    4. Identification of PSD-95 Depalmitoylating Enzymes. Yokoi N, et al. J Neurosci, 2016 Jun 15. PMID 27307232, Free PMC Article
    5. Protein interactions of the transcription factor Hoxa1. Lambert B, et al. BMC Dev Biol, 2012 Oct 22. PMID 23088713, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Site-specific deacylation by ABHD17a controls BK channel splice variant activity.
      Title: Site-specific deacylation by ABHD17a controls BK channel splice variant activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC5244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables palmitoyl-(protein) hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables palmitoyl-(protein) hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables palmitoyl-(protein) hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of NLRP3 inflammasome complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein localization to endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein depalmitoylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein depalmitoylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein depalmitoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of postsynapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    alpha/beta hydrolase domain-containing protein 17A
    Names
    abhydrolase domain-containing protein 17A
    abhydrolase domain-containing protein FAM108A1
    family with sequence similarity 108, member A1
    protein ABHD17A
    NP_001123583.1
    NP_112490.3
    XP_011526640.1
    XP_047295443.1
    XP_047295444.1
    XP_047295445.1
    XP_054178245.1
    XP_054178246.1
    XP_054178247.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130111.2 → NP_001123583.1  alpha/beta hydrolase domain-containing protein 17A isoform 2

      See identical proteins and their annotated locations for NP_001123583.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is lacking an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC012615, BC020512, BC035961, DB025570
      Consensus CDS
      CCDS45902.1
      UniProtKB/Swiss-Prot
      A8K0G8, D6W5Z9, Q6PJU2, Q8WUH9, Q96GS6, Q9BWL0, Q9H7Q9
      UniProtKB/TrEMBL
      A0A7I2YQW9
      Related
      ENSP00000292577.6, ENST00000292577.12
      Conserved Domains (1) summary
      COG1073
      Location:113 → 305
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    2. NM_031213.4 → NP_112490.3  alpha/beta hydrolase domain-containing protein 17A isoform 1

      See identical proteins and their annotated locations for NP_112490.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC012615, BC020512, DB025570
      Consensus CDS
      CCDS32867.1
      UniProtKB/TrEMBL
      A0A7I2YQW9
      Related
      ENSP00000250974.9, ENST00000250974.9
      Conserved Domains (2) summary
      pfam12146
      Location:161 → 335
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:164 → 336
      Abhydrolase_5; Alpha/beta hydrolase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1876810..1885496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439487.1 → XP_047295443.1  alpha/beta hydrolase domain-containing protein 17A isoform X1

      UniProtKB/Swiss-Prot
      A8K0G8, D6W5Z9, Q6PJU2, Q8WUH9, Q96GS6, Q9BWL0, Q9H7Q9

    2. XM_011528338.3 → XP_011526640.1  alpha/beta hydrolase domain-containing protein 17A isoform X4

      See identical proteins and their annotated locations for XP_011526640.1

      UniProtKB/TrEMBL
      A0A7I2YQW9
      Conserved Domains (2) summary
      pfam12146
      Location:161 → 335
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:164 → 336
      Abhydrolase_5; Alpha/beta hydrolase family

    3. XM_047439489.1 → XP_047295445.1  alpha/beta hydrolase domain-containing protein 17A isoform X3

    4. XM_047439488.1 → XP_047295444.1  alpha/beta hydrolase domain-containing protein 17A isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1848130..1856816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322272.1 → XP_054178247.1  alpha/beta hydrolase domain-containing protein 17A isoform X4

    2. XM_054322270.1 → XP_054178245.1  alpha/beta hydrolase domain-containing protein 17A isoform X1

      UniProtKB/Swiss-Prot
      A8K0G8, D6W5Z9, Q6PJU2, Q8WUH9, Q96GS6, Q9BWL0, Q9H7Q9

    3. XM_054322271.1 → XP_054178246.1  alpha/beta hydrolase domain-containing protein 17A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GS6.1 GenPept UniProtKB/Swiss-Prot:Q96GS6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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