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

Gene ID: 51099, updated on 5-Mar-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
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Genomic context

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Location:
3p21.33
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43690870..43734371)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43706458..43749966)
105.20220307 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
  • 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. Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene. Jiang X, et al. Int J Dermatol, 2021 Jul. PMID 33569812
  2. CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis. Yu L, et al. Adv Exp Med Biol, 2020. PMID 32705602, Free PMC Article
  3. Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations. Adant I, et al. J Hepatol, 2020 May. PMID 32107051
  4. Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus. Peng HY, et al. Reprod Sci, 2020 Jan. PMID 32046372
  5. Macrophage ABHD5 Suppresses NFκB-Dependent Matrix Metalloproteinase Expression and Cancer Metastasis. Shang S, et al. Cancer Res, 2019 Nov 1. PMID 31439546

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
    Title: CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
  9. 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.
  10. Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
    Title: Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.
Submit: New GeneRIF Correction See all GeneRIFs (52)

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
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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 triglyceride 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_2023_10

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

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