U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous