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

Gene ID: 51099, updated on 26-Oct-2022

Summary

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

See ABHD5 in Genome Data Viewer
Location:
3p21.33
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43690870..43734371)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43706458..43749958)
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 ribosomal protein L18a pseudogene 9 Neighboring gene tubulin alpha pseudogene 3 Neighboring gene uncharacterized LOC107986081 Neighboring gene uncharacterized LOC124909489 Neighboring gene RNA, U6 small nuclear 367, pseudogene

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables lysophosphatidic acid acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
PubMed 
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
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

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_001355186.2NP_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
    Q9Y369
    UniProtKB/TrEMBL
    A0A0S2Z5D6
    Conserved Domains (1) summary
    cl26327
    Location:1345
    Abhydrolase_1; alpha/beta hydrolase fold
  2. NM_001365649.1NP_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:53304
    Abhydrolase_1; alpha/beta hydrolase fold
  3. NM_001365650.1NP_001352579.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC105903
    Consensus CDS
    CCDS93252.1
    UniProtKB/TrEMBL
    A0A2U3TZT9
    Related
    ENSP00000390849.3, ENST00000458276.7
    Conserved Domains (1) summary
    cl26327
    Location:1251
    Abhydrolase_1; alpha/beta hydrolase fold
  4. NM_016006.6NP_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
    Q8WTS1, Q9Y369
    UniProtKB/TrEMBL
    A0A0S2Z5D6
    Related
    ENSP00000495778.1, ENST00000644371.2
    Conserved Domains (1) summary
    cl26327
    Location:1345
    Abhydrolase_1; alpha/beta hydrolase fold

RNA

  1. NR_158560.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC105903

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047448243.1XP_047304199.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform X1

    UniProtKB/Swiss-Prot
    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..43749958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)