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

Gene ID: 51104, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 5.5), duodenum (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9q21.13
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (71862452..71911193, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (84012803..84061543, complement)
105.20220307 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)

Genotypes

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 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 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_2023_10

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

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