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

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, Oct 2024]
Expression: Broad expression in testis adult (RPKM 60.2), liver E18 (RPKM 34.9) and 23 other tissues See more
Orthologs: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unmasking crucial residues in adipose triglyceride lipase for coactivation with comparative gene identification-58.
Title: Unmasking crucial residues in adipose triglyceride lipase for coactivation with comparative gene identification-58.
Aging reduces ABHD5 protein content in the adipose tissue of mice: The reversal effect of exercise.
Title: Aging reduces ABHD5 protein content in the adipose tissue of mice: The reversal effect of exercise.
suppresses spermidine synthase-dependent spermidine production in tumour-associated macrophages and potentiates the growth of colorectal cancer
Title: Macrophage ABHD5 promotes colorectal cancer growth by suppressing spermidine production by SRM.
Mice lacking brown adipose tissue CGI-58 gene, a lipolytic activator essential for the stimulated lipid droplet lipolysis, have normal thermogenic capacity and are not cold sensitive.
Title: Lipolysis in Brown Adipocytes Is Not Essential for Cold-Induced Thermogenesis in Mice.
Prebinding CGI-58 with PI(3)P or PI(5)P did not alter its coactivation of ATGL in vitro. In summary, purified recombinant CGI-58 that is functional as an ATGL coactivator lacks LPAAT activity.
Title: Comparative gene identification 58/α/β hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity.
CGI-58 regulates hepatic neutral lipid storage and inflammation in the genetic absence of ATGL.
Title: Regulation of Hepatic Triacylglycerol Metabolism by CGI-58 Does Not Require ATGL Co-activation.
ABHD5 possesses a PNPLA2-independent function in regulating autophagy and tumorigenesis.
Title: ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2.
omega-O-AcylCer and CLE formation critically depend on CGI-58 expression in differentiated keratinocytes.
Title: Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation.
These results demonstrate that macrophage CGI-58 enhances PPAR-gamma signaling and thus suppresses inflammatory responsiveness and mitochondrial dysfunction in macrophages.
Title: Macrophage CGI-58 Attenuates Inflammatory Responsiveness via Promotion of PPARγ Signaling.
Here, we identify synthetic ligands that release ABHD5 from PLIN1 or PLIN5 without PKA activation and rapidly activate adipocyte and muscle lipolysis.
Title: Endogenous and Synthetic ABHD5 Ligands Regulate ABHD5-Perilipin Interactions and Lipolysis in Fat and Muscle.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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_001346136.1

EC 2.3.1.51

NP_080455.1

EC 2.3.1.51

XP_030100386.1

EC 2.3.1.51

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)

NM_001359207.1 → NP_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:19 → 194

PLN02894; hydrolase, alpha/beta fold family protein
NM_026179.2 → NP_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:3 → 347

PLN02894; hydrolase, alpha/beta fold family protein

RNA

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

122180681..122210589

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

PLN02894
Location:53 → 304

PLN02894; hydrolase, alpha/beta fold family protein