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ABHD3 abhydrolase domain containing 3, phospholipase [ Homo sapiens (human) ]

Gene ID: 171586, updated on 4-Jun-2020

Summary

Official Symbol
ABHD3provided by HGNC
Official Full Name
abhydrolase domain containing 3, phospholipaseprovided by HGNC
Primary source
HGNC:HGNC:18718
See related
Ensembl:ENSG00000158201 MIM:612197
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LABH3
Summary
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 25.3), small intestine (RPKM 19.0) and 23 other tissues See more
Orthologs

Genomic context

See ABHD3 in Genome Data Viewer
Location:
18q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (21650897..21704793, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19230858..19284766, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene establishment of sister chromatid cohesion N-acetyltransferase 1 Neighboring gene small nuclear ribonucleoprotein D1 polypeptide Neighboring gene microRNA 320c-1 Neighboring gene uncharacterized LOC105376866 Neighboring gene VISTA enhancer hs1650 Neighboring gene mindbomb E3 ubiquitin protein ligase 1

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC11259

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-acyl-2-lysophosphatidylserine acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
 
acetylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine 1-acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
 
phospholipase A1 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase A1 activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipase A1 activity TAS
Traceable Author Statement
more info
 
phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase A2 activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) IEA
Inferred from Electronic Annotation
more info
 
phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) IEA
Inferred from Electronic Annotation
more info
 
short-chain carboxylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylcholine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phospholipase ABHD3
Names
abhydrolase domain containing 3
abhydrolase domain-containing protein 3
alpha/beta hydrolase domain containing protein 3
lung alpha/beta hydrolase 3
NP_001295185.1
NP_001295186.1
NP_612213.2
XP_011524149.1
XP_016881061.1
XP_016881062.1
XP_016881063.1
XP_024306862.1

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_001308256.2NP_001295185.1  phospholipase ABHD3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF007152, BI918326, DB126083
    Consensus CDS
    CCDS77160.1
    UniProtKB/Swiss-Prot
    Q8WU67
    UniProtKB/TrEMBL
    J3KTE1
    Related
    ENSP00000462935.1, ENST00000580981.5
    Conserved Domains (2) summary
    PLN02511
    Location:39350
    PLN02511; hydrolase
    cl21494
    Location:92345
    Abhydrolase; alpha/beta hydrolases
  2. NM_001308257.1NP_001295186.1  phospholipase ABHD3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF007152, AV654056, BG547174
    Consensus CDS
    CCDS77159.1
    UniProtKB/Swiss-Prot
    Q8WU67
    UniProtKB/TrEMBL
    J3KSP1
    Conserved Domains (1) summary
    cl21494
    Location:8203
    Abhydrolase; alpha/beta hydrolases
  3. NM_138340.5NP_612213.2  phospholipase ABHD3 isoform 1

    See identical proteins and their annotated locations for NP_612213.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC021196, DB126083
    Consensus CDS
    CCDS32802.1
    UniProtKB/Swiss-Prot
    Q8WU67
    Related
    ENSP00000289119.2, ENST00000289119.7
    Conserved Domains (2) summary
    PLN02511
    Location:39403
    PLN02511; hydrolase
    cl21494
    Location:92398
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    21650897..21704793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451094.1XP_024306862.1  phospholipase ABHD3 isoform X2

    Related
    ENSP00000462578.1, ENST00000578270.5
    Conserved Domains (1) summary
    cl21494
    Location:8203
    Abhydrolase; alpha/beta hydrolases
  2. XM_017025572.1XP_016881061.1  phospholipase ABHD3 isoform X2

    UniProtKB/TrEMBL
    J3KSP1
    Conserved Domains (1) summary
    cl21494
    Location:8203
    Abhydrolase; alpha/beta hydrolases
  3. XM_017025573.1XP_016881062.1  phospholipase ABHD3 isoform X2

    UniProtKB/TrEMBL
    J3KSP1
    Conserved Domains (1) summary
    cl21494
    Location:8203
    Abhydrolase; alpha/beta hydrolases
  4. XM_017025574.1XP_016881063.1  phospholipase ABHD3 isoform X2

    UniProtKB/TrEMBL
    J3KSP1
    Conserved Domains (1) summary
    cl21494
    Location:8203
    Abhydrolase; alpha/beta hydrolases
  5. XM_011525847.3XP_011524149.1  phospholipase ABHD3 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:92352
    Abhydrolase; alpha/beta hydrolases

RNA

  1. XR_935209.3 RNA Sequence

  2. XR_002958165.1 RNA Sequence

  3. XR_935210.3 RNA Sequence

  4. XR_001753151.2 RNA Sequence

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