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Abhd5 abhydrolase domain containing 5 [ Mus musculus (house mouse) ]

Gene ID: 67469, updated on 2-Nov-2024

Summary

Official Symbol
Abhd5provided by MGI
Official Full Name
abhydrolase domain containing 5provided by MGI
Primary source
MGI:MGI:1914719
See related
Ensembl:ENSMUSG00000032540 AllianceGenome:MGI:1914719
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
IECN5; NCIE2; CGI-58; 1300003D03Rik; 2010002J10Rik
Summary
Enables lipase activator activity. Involved in negative regulation of sequestering of triglyceride and positive regulation of triglyceride catabolic process. Located in cytosol and lipid droplet. Is expressed in central nervous system; dorsal root ganglion; heart; retina; and skin. Used to study Chanarin-Dorfman syndrome. Human ortholog(s) of this gene implicated in Chanarin-Dorfman syndrome; autosomal recessive congenital ichthyosis 1; and colon adenocarcinoma. Orthologous to human ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis adult (RPKM 60.2), liver E18 (RPKM 34.9) and 23 other tissues See more
Orthologs
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Genomic context

See Abhd5 in Genome Data Viewer
Location:
9 F4; 9 73.03 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (122180681..122210589)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (122351616..122381524)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35289 Neighboring gene STARR-seq mESC enhancer starr_25547 Neighboring gene predicted gene, 35398 Neighboring gene STARR-seq mESC enhancer starr_25548 Neighboring gene RIKEN cDNA A730085K08 gene Neighboring gene STARR-seq mESC enhancer starr_25549 Neighboring gene STARR-seq mESC enhancer starr_25550 Neighboring gene predicted gene, 35454

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables 1-acylglycerol-3-phosphate O-acyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables carboxylic ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables lipase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables lysophosphatidic acid acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables lysophosphatidic acid acyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables triacylglycerol lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
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
 
acts_upstream_of_or_within lipid metabolic process ISO
Inferred from Sequence Orthology
more info
PubMed 
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 negative regulation of sequestering of triglyceride ISO
Inferred from Sequence Orthology
more info
 
involved_in phosphatidic acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phosphatidic acid biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in phosphatidic acid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of lipid catabolic process IMP
Inferred from Mutant Phenotype
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 
involved_in positive regulation of triglyceride catabolic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
located_in lipid droplet TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
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_001346136.1
NP_080455.1
XP_030100386.1

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_001359207.1NP_001346136.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC108846
    Consensus CDS
    CCDS90688.1
    Related
    ENSMUSP00000107123.4, ENSMUST00000111497.5
    Conserved Domains (1) summary
    PLN02894
    Location:19194
    PLN02894; hydrolase, alpha/beta fold family protein
  2. NM_026179.2NP_080455.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform 1

    See identical proteins and their annotated locations for NP_080455.1

    Status: VALIDATED

    Source sequence(s)
    AK004873, AK050377, CN840045
    Consensus CDS
    CCDS23646.1
    UniProtKB/Swiss-Prot
    Q9CTY3, Q9DBL9
    Related
    ENSMUSP00000122274.2, ENSMUST00000156520.8
    Conserved Domains (1) summary
    PLN02894
    Location:3347
    PLN02894; hydrolase, alpha/beta fold family protein

RNA

  1. NR_152865.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC108846

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    122180681..122210589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244526.2XP_030100386.1  1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform X1

    Conserved Domains (1) summary
    PLN02894
    Location:53304
    PLN02894; hydrolase, alpha/beta fold family protein