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

Gene ID: 81926, updated on 1-Aug-2020

Summary

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
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
Expression
Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See ABHD17A in Genome Data Viewer
Location:
19p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1876810..1885519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1876975..1885518, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8340 Neighboring gene Kruppel like factor 16 Neighboring gene Sharpr-MPRA regulatory region 11648 Neighboring gene Sharpr-MPRA regulatory region 13932 Neighboring gene secretory carrier membrane protein 4 Neighboring gene adenosine deaminase tRNA specific 3

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC5244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
palmitoyl-(protein) hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
palmitoyl-(protein) hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of protein localization to microtubule IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein localization to endosome IEA
Inferred from Electronic Annotation
more info
 
protein depalmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein palmitoylation IGI
Inferred from Genetic Interaction
more info
PubMed 
protein palmitoylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of postsynapse organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
anchored component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
anchored component of postsynaptic recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
alpha/beta hydrolase domain-containing protein 17A
Names
abhydrolase domain containing 17A
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

NCBI Reference Sequences (RefSeq)

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_001130111.2NP_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
    Q96GS6
    Related
    ENSP00000292577.6, ENST00000292577.11
    Conserved Domains (1) summary
    COG1073
    Location:113305
    FrsA; Fermentation-respiration switch protein FrsA, has esterase activity, DUF1100 family [Signal transduction mechanisms]
  2. NM_031213.4NP_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/Swiss-Prot
    Q96GS6
    Related
    ENSP00000250974.9, ENST00000250974.9
    Conserved Domains (2) summary
    pfam12146
    Location:161335
    Hydrolase_4; Serine aminopeptidase, S33
    pfam12695
    Location:164336
    Abhydrolase_5; Alpha/beta hydrolase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1876810..1885519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528338.2XP_011526640.1  alpha/beta hydrolase domain-containing protein 17A isoform X1

    See identical proteins and their annotated locations for XP_011526640.1

    UniProtKB/Swiss-Prot
    Q96GS6
    Conserved Domains (2) summary
    pfam12146
    Location:161335
    Hydrolase_4; Serine aminopeptidase, S33
    pfam12695
    Location:164336
    Abhydrolase_5; Alpha/beta hydrolase family

RNA

  1. XR_001753771.1 RNA Sequence

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