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

    Gene ID: 171586, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (21650901..21704774, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (21835996..21889881, complement)
    RS_2024_09 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 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 (15) 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 acetylesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monoacylglycerol 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 IEA
    Inferred from Electronic Annotation
    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_2024_08

    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

    Gene LinkOut

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