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

Gene ID: 171586, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:18718
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
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Genomic context

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See ABHD3 in Genome Data Viewer
Location:
18q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21650901..21704774, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21835996..21889881, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (19230862..19284735, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene establishment of sister chromatid cohesion N-acetyltransferase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:19171613-19172342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:19173073-19173800 Neighboring gene Sharpr-MPRA regulatory region 3945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13136 Neighboring gene MPRA-validated peak3065 silencer Neighboring gene small nuclear ribonucleoprotein D1 polypeptide Neighboring gene MPRA-validated peak3066 silencer Neighboring gene microRNA 320c-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13138 Neighboring gene MPRA-validated peak3067 silencer Neighboring gene small nucleolar RNA SNORA81 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9345 Neighboring gene MIB E3 ubiquitin protein ligase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:19330549-19331049 Neighboring gene VISTA enhancer hs1650 Neighboring gene RNA, 7SL, cytoplasmic 233, pseudogene

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. Metabolomics annotates ABHD3 as a physiologic regulator of medium-chain phospholipids. Long JZ, et al. Nat Chem Biol, 2011 Sep 18. PMID 21926997, Free PMC Article
  2. Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. Edgar AJ, et al. Biochem Biophys Res Commun, 2002 Apr 5. PMID 11922611
  3. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. Demirkan A, et al. PLoS Genet, 2012. PMID 22359512, Free PMC Article
  4. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
  5. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC11259

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-acyl-2-lysophosphatidylserine acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables acetylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylserine 1-acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables phospholipase A1 activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phospholipase A1 activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phospholipase A1 activity TAS
Traceable Author Statement
more info
  
enables phospholipase A2 activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phospholipase A2 activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in medium-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in medium-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in phosphatidylcholine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylcholine metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
phospholipase ABHD3
Names
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_016881063.1
XP_047293268.1
XP_047293269.1
XP_047293270.1
XP_054174206.1
XP_054174207.1
XP_054174208.1
XP_054174209.1
XP_054174210.1

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_001308256.2 → NP_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/TrEMBL
    J3KTE1
    Related
    ENSP00000462935.1, ENST00000580981.5
    Conserved Domains (2) summary
    PLN02511
    Location:39 → 350
    PLN02511; hydrolase
    cl21494
    Location:92 → 345
    Abhydrolase; alpha/beta hydrolases

  2. NM_001308257.2 → NP_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/TrEMBL
    J3KSP1
    Related
    ENSP00000462578.1, ENST00000578270.5
    Conserved Domains (1) summary
    cl21494
    Location:8 → 203
    Abhydrolase; alpha/beta hydrolases

  3. NM_138340.5 → NP_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
    B0YIV0, B7Z5C2, O43411, Q8WU67
    Related
    ENSP00000289119.2, ENST00000289119.7
    Conserved Domains (1) summary
    PLN02511
    Location:39 → 403
    PLN02511; hydrolase

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    21650901..21704774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025574.2 → XP_016881063.1  phospholipase ABHD3 isoform X4

    UniProtKB/TrEMBL
    J3KSP1
    Conserved Domains (1) summary
    cl21494
    Location:8 → 203
    Abhydrolase; alpha/beta hydrolases

  2. XM_047437312.1 → XP_047293268.1  phospholipase ABHD3 isoform X2

  3. XM_011525847.4 → XP_011524149.1  phospholipase ABHD3 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:92 → 352
    Abhydrolase; alpha/beta hydrolases

  4. XM_047437313.1 → XP_047293269.1  phospholipase ABHD3 isoform X3

  5. XM_047437314.1 → XP_047293270.1  phospholipase ABHD3 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    21835996..21889881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318234.1 → XP_054174209.1  phospholipase ABHD3 isoform X4

    UniProtKB/TrEMBL
    J3KSP1

  2. XM_054318232.1 → XP_054174207.1  phospholipase ABHD3 isoform X2

  3. XM_054318231.1 → XP_054174206.1  phospholipase ABHD3 isoform X1

  4. XM_054318233.1 → XP_054174208.1  phospholipase ABHD3 isoform X3

  5. XM_054318235.1 → XP_054174210.1  phospholipase ABHD3 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WU67.2 GenPept UniProtKB/Swiss-Prot:Q8WU67

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