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    ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [ Homo sapiens (human) ]

    Gene ID: 51099, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ABHD5provided by HGNC
    Official Full Name
    abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:21396
    See related
    Ensembl:ENSG00000011198 MIM:604780; AllianceGenome:HGNC:21396
    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
    CGI58; IECN2; NCIE2
    Summary
    The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 12.2), bone marrow (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD5 in Genome Data Viewer
    Location:
    3p21.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43690870..43734371)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43706458..43749966)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43732362..43775863)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene anoctamin 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:43532352-43532852 Neighboring gene ribosomal protein L18a pseudogene 9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:43577638-43578572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43607028-43607750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43663772-43664424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43664425-43665077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14257 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:43744690-43744834 Neighboring gene tubulin alpha pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:43794737-43795936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43811957-43812456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43814823-43815349 Neighboring gene uncharacterized LOC107986081 Neighboring gene NANOG hESC enhancer GRCh37_chr3:43896214-43896715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43897541-43898042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43898043-43898542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14261 Neighboring gene uncharacterized LOC124909489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:44055399-44056148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19759 Neighboring gene RNA, U6 small nuclear 367, 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. Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. Youssefian L, et al. J Hepatol, 2019 Aug. PMID 30954460, Free PMC Article
    2. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. Takeichi T, et al. J Dermatol Sci, 2016 Feb. PMID 26547112
    3. Chanarin Dorfman syndrome: a case report with novel nonsense mutation. Gupta N, et al. Gene, 2016 Jan 10. PMID 26353074
    4. ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production. Vieyres G, et al. PLoS Pathog, 2016 Apr. PMID 27124600, Free PMC Article
    5. Structure of a CGI-58 motif provides the molecular basis of lipid droplet anchoring. Boeszoermenyi A, et al. J Biol Chem, 2015 Oct 30. PMID 26350461, Free PMC Article

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FOXC1 transcriptionally suppresses ABHD5 to inhibit the progression of renal cell carcinoma through AMPK/mTOR pathway.
      Title: FOXC1 transcriptionally suppresses ABHD5 to inhibit the progression of renal cell carcinoma through AMPK/mTOR pathway.
    2. ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus.
      Title: ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus.
    3. ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer cell stemness via suppressing YAP methylation.
      Title: ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer cell stemness via suppressing YAP methylation.
    4. Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
      Title: Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
    5. circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis.
      Title: circFAM120A participates in repeated implantation failure by regulating decidualization via the miR-29/ABHD5 axis.
    6. Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
      Title: Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
    7. The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4.
      Title: The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4.
    8. Dynamic interactions of ABHD5 with PNPLA3 regulate triacylglycerol metabolism in brown adipocytes.
      Title: Dynamic interactions of ABHD5 with PNPLA3 regulate triacylglycerol metabolism in brown adipocytes.
    9. CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
      Title: CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
    10. Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus.
      Title: Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    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

    Associated conditions

    Description Tests
    Triglyceride storage disease with ichthyosis
    MedGen: C0268238 OMIM: 275630 GeneReviews: Not available
    		Compare labs

    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

    • MGC8731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1-acylglycerol-3-phosphate O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carboxylic ester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lysophosphatidic acid acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lysophosphatidic acid acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables triacylglycerol lipase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of sequestering of triglyceride IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of sequestering of triglyceride IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidic acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of triglyceride catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lipid droplet ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    1-acylglycerol-3-phosphate O-acyltransferase ABHD5
    Names
    abhydrolase domain-containing protein 5
    lipid droplet-binding protein CGI-58
    NP_001342115.1
    NP_001352578.1
    NP_001352579.1
    NP_057090.2
    XP_047304199.1
    XP_054202694.1

    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.

    Genomic

    1. NG_007090.5 RefSeqGene

      Range
      5069..36856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1174

    mRNA and Protein(s)

    1. NM_001355186.2 → NP_001342115.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variant 1, encodes the longest isoform (a).
      Source sequence(s)
      AC105903, BG721387, BU622105
      Consensus CDS
      CCDS2711.1
      UniProtKB/Swiss-Prot
      B2R9K0, Q8WTS1, Q9Y369
      UniProtKB/TrEMBL
      A0A0S2Z5D6
      Conserved Domains (1) summary
      cl26327
      Location:1 → 345
      Abhydrolase_1; alpha/beta hydrolase fold

    2. NM_001365649.1 → NP_001352578.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC105903
      Consensus CDS
      CCDS93253.1
      UniProtKB/TrEMBL
      C9J1D1
      Related
      ENSP00000494478.1, ENST00000642351.1
      Conserved Domains (1) summary
      cl26327
      Location:53 → 304
      Abhydrolase_1; alpha/beta hydrolase fold

    3. NM_001365650.1 → NP_001352579.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC105903
      Consensus CDS
      CCDS93252.1
      UniProtKB/TrEMBL
      A0A2R8YEZ7, A0A2U3TZT9
      Related
      ENSP00000390849.3, ENST00000458276.7
      Conserved Domains (1) summary
      cl26327
      Location:1 → 251
      Abhydrolase_1; alpha/beta hydrolase fold

    4. NM_016006.6 → NP_057090.2  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a

      See identical proteins and their annotated locations for NP_057090.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC105903, AF007132, BC021958, BG721387
      Consensus CDS
      CCDS2711.1
      UniProtKB/Swiss-Prot
      B2R9K0, Q8WTS1, Q9Y369
      UniProtKB/TrEMBL
      A0A0S2Z5D6
      Related
      ENSP00000495778.1, ENST00000644371.2
      Conserved Domains (1) summary
      cl26327
      Location:1 → 345
      Abhydrolase_1; alpha/beta hydrolase fold

    RNA

    1. NR_158560.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC105903

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      43690870..43734371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448243.1 → XP_047304199.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform X1

      UniProtKB/Swiss-Prot
      B2R9K0, Q8WTS1, Q9Y369
      UniProtKB/TrEMBL
      A0A0S2Z5D6
      Related
      ENSP00000497701.1, ENST00000649763.1

    RNA

    1. XR_007095689.1 RNA Sequence

    2. XR_007095691.1 RNA Sequence

    3. XR_007095690.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      43706458..43749966
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346719.1 → XP_054202694.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform X1

      UniProtKB/Swiss-Prot
      B2R9K0, Q8WTS1, Q9Y369
      UniProtKB/TrEMBL
      A0A0S2Z5D6

    RNA

    1. XR_008486728.1 RNA Sequence

    2. XR_008486730.1 RNA Sequence

    3. XR_008486729.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTS1.1 GenPept UniProtKB/Swiss-Prot:Q8WTS1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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