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ABHD5 abhydrolase domain containing 5 [ Homo sapiens (human) ]

Gene ID: 51099, updated on 12-Oct-2019

Summary

Official Symbol
ABHD5provided by HGNC
Official Full Name
abhydrolase domain containing 5provided by HGNC
Primary source
HGNC:HGNC:21396
See related
Ensembl:ENSG00000011198 MIM:604780
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

Genomic context

See ABHD5 in Genome Data Viewer
Location:
3p21.33
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (43690870..43734371)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43732375..43764217)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene anoctamin 10 Neighboring gene ribosomal protein L18a pseudogene Neighboring gene tubulin alpha pseudogene 3 Neighboring gene uncharacterized LOC105377054 Neighboring gene uncharacterized LOC107986081

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 BioSystems

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
1-acylglycerol-3-phosphate O-acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
carboxylic ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysophosphatidic acid acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysophosphatidic acid acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT triglyceride lipase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of sequestering of triglyceride IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidic acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidic acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lipoprotein lipase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of triglyceride catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
lipid droplet ISS
Inferred from Sequence or Structural Similarity
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
truncated abhydrolase domain-containing protein 5
NP_001342115.1
NP_001352578.1
NP_001352579.1
NP_057090.2

NCBI Reference Sequences (RefSeq)

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)

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
    Related
    ENSP00000497701.1, ENST00000649763.1
    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
    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
    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
    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 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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