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    ABHD17B abhydrolase domain containing 17B, depalmitoylase [ Homo sapiens (human) ]

    Gene ID: 51104, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ABHD17Bprovided by HGNC
    Official Full Name
    abhydrolase domain containing 17B, depalmitoylaseprovided by HGNC
    Primary source
    HGNC:HGNC:24278
    See related
    Ensembl:ENSG00000107362 MIM:617943; AllianceGenome:HGNC:24278
    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
    CGI-67; C9orf77; FAM108B1
    Summary
    Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 5.5), duodenum (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD17B in Genome Data Viewer
    Location:
    9q21.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (71862452..71911193, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (84012803..84061543, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (74477368..74526109, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:74304891-74306090 Neighboring gene cell migration inducing hyaluronidase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74358750-74359614 Neighboring gene NANOG hESC enhancer GRCh37_chr9:74368830-74369517 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74371765-74372408 Neighboring gene HNF1 motif-containing MPRA enhancer 224 Neighboring gene hESC enhancers GRCh37_chr9:74383087-74383768 and GRCh37_chr9:74383769-74384450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74408684-74409233 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:74409234-74409782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28454 Neighboring gene glucosamine-6-phosphate deaminase 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28457 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74534388-74534894 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74535401-74535906 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:74535907-74536412 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:74536413-74536918 Neighboring gene chromosome 9 open reading frame 85 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74568411-74569057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74578682-74579426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74579427-74580171 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:74604827-74606026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74622307-74622838 Neighboring gene heat shock protein family B (small) member 1 pseudogene 1

    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. ABHD17 regulation of plasma membrane palmitoylation and N-Ras-dependent cancer growth. Remsberg JR, et al. Nat Chem Biol, 2021 Aug. PMID 33927411, 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. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ABHD17 regulation of plasma membrane palmitoylation and N-Ras-dependent cancer growth.
      Title: ABHD17 regulation of plasma membrane palmitoylation and N-Ras-dependent cancer growth.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein depalmitoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of dendritic spine maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein localization to synapse IEA
    Inferred from Electronic Annotation
    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 membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density 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 17B
    Names
    abhydrolase domain-containing protein 17B
    abhydrolase domain-containing protein FAM108B1
    epididymis secretory sperm binding protein
    family with sequence similarity 108, member B1
    protein ABHD17B
    NP_001020951.1
    NP_057098.2
    XP_006717197.2
    XP_016870276.1
    XP_016870277.1
    XP_016870278.1
    XP_047279402.1
    XP_047279403.1
    XP_054219026.1
    XP_054219027.1
    XP_054219028.1
    XP_054219029.1
    XP_054219030.1
    XP_054219031.1

    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_001025780.3 → NP_001020951.1  alpha/beta hydrolase domain-containing protein 17B isoform 2

      See identical proteins and their annotated locations for NP_001020951.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL138751, AL671309
      Consensus CDS
      CCDS35043.1
      UniProtKB/Swiss-Prot
      A8KAJ5, Q5VST6, Q5VST7, Q86YB6, Q8IY03, Q9Y377
      UniProtKB/TrEMBL
      A0A384MEH9
      Related
      ENSP00000330222.6, ENST00000333421.7
      Conserved Domains (1) summary
      COG1073
      Location:93 → 285
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    2. NM_016014.4 → NP_057098.2  alpha/beta hydrolase domain-containing protein 17B isoform 1

      See identical proteins and their annotated locations for NP_057098.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF151825, AI564777, BC038390, BG720713, CR746318
      Consensus CDS
      CCDS35042.1
      UniProtKB/Swiss-Prot
      Q5VST6
      Related
      ENSP00000366240.2, ENST00000377041.6
      Conserved Domains (1) summary
      COG1073
      Location:93 → 285
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      71862452..71911193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423447.1 → XP_047279403.1  alpha/beta hydrolase domain-containing protein 17B isoform X3

    2. XM_006717134.4 → XP_006717197.2  alpha/beta hydrolase domain-containing protein 17B isoform X1

      UniProtKB/Swiss-Prot
      Q5VST6
      Conserved Domains (1) summary
      COG1073
      Location:93 → 285
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    3. XM_017014787.3 → XP_016870276.1  alpha/beta hydrolase domain-containing protein 17B isoform X1

      UniProtKB/Swiss-Prot
      Q5VST6
      Conserved Domains (1) summary
      COG1073
      Location:93 → 285
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    4. XM_047423446.1 → XP_047279402.1  alpha/beta hydrolase domain-containing protein 17B isoform X1

    5. XM_017014788.3 → XP_016870277.1  alpha/beta hydrolase domain-containing protein 17B isoform X2

      UniProtKB/Swiss-Prot
      A8KAJ5, Q5VST6, Q5VST7, Q86YB6, Q8IY03, Q9Y377
      UniProtKB/TrEMBL
      A0A384MEH9
      Conserved Domains (1) summary
      COG1073
      Location:93 → 285
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    6. XM_017014789.3 → XP_016870278.1  alpha/beta hydrolase domain-containing protein 17B isoform X2

      UniProtKB/Swiss-Prot
      A8KAJ5, Q5VST6, Q5VST7, Q86YB6, Q8IY03, Q9Y377
      UniProtKB/TrEMBL
      A0A384MEH9
      Conserved Domains (1) summary
      COG1073
      Location:93 → 285
      FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      84012803..84061543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363056.1 → XP_054219031.1  alpha/beta hydrolase domain-containing protein 17B isoform X3

    2. XM_054363052.1 → XP_054219027.1  alpha/beta hydrolase domain-containing protein 17B isoform X1

    3. XM_054363051.1 → XP_054219026.1  alpha/beta hydrolase domain-containing protein 17B isoform X1

    4. XM_054363053.1 → XP_054219028.1  alpha/beta hydrolase domain-containing protein 17B isoform X1

    5. XM_054363054.1 → XP_054219029.1  alpha/beta hydrolase domain-containing protein 17B isoform X2

      UniProtKB/Swiss-Prot
      A8KAJ5, Q5VST6, Q5VST7, Q86YB6, Q8IY03, Q9Y377
      UniProtKB/TrEMBL
      A0A384MEH9

    6. XM_054363055.1 → XP_054219030.1  alpha/beta hydrolase domain-containing protein 17B isoform X2

      UniProtKB/Swiss-Prot
      A8KAJ5, Q5VST6, Q5VST7, Q86YB6, Q8IY03, Q9Y377
      UniProtKB/TrEMBL
      A0A384MEH9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VST6.1 GenPept UniProtKB/Swiss-Prot:Q5VST6

    Gene LinkOut

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

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