Elovl4 ELOVL fatty acid elongase 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elovl4provided by MGI
Official Full Name: ELOVL fatty acid elongase 4provided by MGI
Primary source: MGI:MGI:1933331
See related: Ensembl:ENSMUSG00000032262 AllianceGenome:MGI:1933331
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
Summary: Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; eye; genitourinary system; skin; and spleen. Used to study Stargardt disease. Human ortholog(s) of this gene implicated in corneal dystrophy and spinocerebellar ataxia type 34. Orthologous to human ELOVL4 (ELOVL fatty acid elongase 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in stomach adult (RPKM 17.3), CNS E18 (RPKM 12.1) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E2; 9 45.6 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (83660745..83688358, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (83778692..83806305, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

Mapping membrane lipids in the developing and adult mouse retina under physiological and pathological conditions using mass spectrometry.
Title: Mapping membrane lipids in the developing and adult mouse retina under physiological and pathological conditions using mass spectrometry.
Retinal bioavailability and functional effects of a synthetic very-long-chain polyunsaturated fatty acid in mice.
Title: Retinal bioavailability and functional effects of a synthetic very-long-chain polyunsaturated fatty acid in mice.
expression of Elovl4 and Fa2h thus correlate with the abundance of n-Vs and h-Vs in the SLs of rat spermatocytes and spermatids, respectively
Title: Elovl4 and Fa2h expression during rat spermatogenesis: a link to the very-long-chain PUFAs typical of germ cell sphingolipids.
these studies establish a critical, novel role for ELOVL4 and its VLC-SFA products in regulating synaptic release kinetics and epileptogenesis.
Title: Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency.
The abnormal presence of ELOVL4 protein in POSs results in phagosomes that are defective in recruiting appropriate motor protein linkers, thus contributing to slower degradation because their altered motility results in slower basal migration and fewer productive encounters with endolysosomes.
Title: Defective phagosome motility and degradation in cell nonautonomous RPE pathogenesis of a dominant macular degeneration.
ELOVL4 is significantly reduced in the diabetic retina.
Title: ELOVL4-Mediated Production of Very Long-Chain Ceramides Stabilizes Tight Junctions and Prevents Diabetes-Induced Retinal Vascular Permeability.
mutations in the ELOVL4 gene lead to cone degeneration in humans, whereas mouse models expressing the mutant Elovl4 show predominant rod degeneration
Title: Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.
Studies indicate that Knock-IN and Knock-OUT strains of ELOVL4 (STGD3) model development has been to unveil the causal connection between the genotype and early-onset progressive cone degeneration in humans.
Title: Mouse Models of Stargardt 3 Dominant Macular Degeneration.
ELOVL4 enzymatic activity is governed by individual histidines in its active site and the endoplasmic reticulum microenvironment.
Title: Endoplasmic reticulum microenvironment and conserved histidines govern ELOVL4 fatty acid elongase activity.
To elucidate the role of VLC-PUFAs in photoreceptor terminals, we conditionally deleted Elovl4 in rod and cone photoreceptors of mice and measured inner retina function, synaptic connectivity, and ultrastructure of rod terminals with reduced VLC-PUFAs.
Title: Examination of VLC-PUFA-deficient photoreceptor terminals.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (8) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fatty acid elongase activity	EXP Inferred from Experiment more info	PubMed
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, saturated fatty acid	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: very long chain fatty acid elongase 4

Names: 3-keto acyl-CoA synthase Elovl4; ELOVL FA elongase 4; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; elongation of very long chain fatty acids protein 4; very long chain 3-ketoacyl-CoA synthase 4; very long chain 3-oxoacyl-CoA synthase 4

NP_683743.2

EC 2.3.1.199

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.