Elovl5 ELOVL fatty acid elongase 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elovl5provided by MGI
Official Full Name: ELOVL fatty acid elongase 5provided by MGI
Primary source: MGI:MGI:1916051
See related: Ensembl:ENSMUSG00000032349 AllianceGenome:MGI:1916051
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: HELO1; 1110059L23Rik
Summary: Predicted to enable fatty acid elongase activity. Predicted to be involved in fatty acid biosynthetic process; positive regulation of fatty acid biosynthetic process; and sphingolipid biosynthetic process. Predicted to be located in dendritic tree; endoplasmic reticulum; and neuronal cell body. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 38. Orthologous to human ELOVL5 (ELOVL fatty acid elongase 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver adult (RPKM 103.9), adrenal adult (RPKM 79.4) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E1; 9 43.36 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (77824647..77891801)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (77917365..77984519)

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
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?

Deletion of Elovl5 leads to dyslipidemia and atherosclerosis in LDLR-deficient mice.
Title: Deletion of Elovl5 leads to dyslipidemia and atherosclerosis in LDLR-deficient mice.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Title: Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.
Title: Elovl5 is required for proper action potential conduction along peripheral myelinated fibers.
ELOVL5 expression was increased in cellular and mouse models of induced obesity-related diabetes.
Title: Genome-wide methylation analysis identifies ELOVL5 as an epigenetic biomarker for the risk of type 2 diabetes mellitus.
These studies establish that Elovl5 activity regulates hepatic levels of FAs controlling PPARbeta activity, ATGL expression, and TG catabolism, but not FA oxidation.
Title: Fatty acid elongase-5 (Elovl5) regulates hepatic triglyceride catabolism in obese C57BL/6J mice.
knockdown of Elovl5, Fads1, or Fads2 decreased the level of Mead acid.
Title: Identification of genes and pathways involved in the synthesis of Mead acid (20:3n-9), an indicator of essential fatty acid deficiency.
a novel link between Elovl5-mediated synthesis of 18:1,n-7 and GNG through the control of the mTORC2-Akt-FoxO1 pathway
Title: Elovl5 regulates the mTORC2-Akt-FOXO1 pathway by controlling hepatic cis-vaccenic acid synthesis in diet-induced obese mice.
Results establish a link between fatty acid elongation and hepatic glucose metabolism and suggest a role for regulators of Elovl5 activity in the treatment of diet-induced hyperglycemia.
Title: Elevated hepatic fatty acid elongase-5 activity corrects dietary fat-induced hyperglycemia in obese C57BL/6J mice.
reduced ELOVL5 activity leads to hepatic steatosis, and endogenously synthesized PUFAs are key regulators of SREBP-1c activation and fatty acid synthesis in liver
Title: Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice.
Elovl5-induced changes in hepatic fatty acid content affect multiple pathways regulating hepatic lipid and carbohydrate composition
Title: Elevated hepatic fatty acid elongase-5 activity affects multiple pathways controlling hepatic lipid and carbohydrate composition.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Elovl5 (e-PCR), detects polymorphism
- UniSTS:547437

AU043003 (e-PCR)
- UniSTS:159901

RH124932 (e-PCR)
- UniSTS:161754

AI747313 (e-PCR)
- UniSTS:179941

RH125929 (e-PCR)
- UniSTS:142823

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	ISO Inferred from Sequence Orthology more info
enables fatty acid elongase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, monounsaturated fatty acid	ISO Inferred from Sequence Orthology more info
involved_in fatty acid elongation, monounsaturated fatty acid	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
involved_in fatty acid elongation, polyunsaturated fatty acid	ISS Inferred from Sequence or Structural Similarity more info
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	IEA Inferred from Electronic Annotation more info
involved_in long-chain fatty-acyl-CoA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fatty acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in unsaturated fatty acid biosynthetic process	IEA Inferred from Electronic Annotation 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
involved_in very long-chain fatty acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendritic tree	ISO Inferred from Sequence Orthology more info
located_in dendritic tree	ISS Inferred from Sequence or Structural Similarity more info
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	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: very long chain fatty acid elongase 5

Names: 3-keto acyl-CoA synthase Elovl5; ELOVL FA elongase 5; ELOVL family member 5, elongation of long chain fatty acids; elongation of very long chain fatty acids protein 5; fatty acid elongase 1; homolog of yeast long chain polyunsaturated fatty acid elongation enzyme; very long chain 3-ketoacyl-CoA synthase 5; very long chain 3-oxoacyl-CoA synthase 5

NP_599016.2

EC 2.3.1.199

XP_006511463.1

EC 2.3.1.199

XP_011241109.2

EC 2.3.1.199

XP_030100414.1

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.

mRNA and Protein(s)

NM_134255.3 → NP_599016.2 very long chain fatty acid elongase 5

See identical proteins and their annotated locations for NP_599016.2

Status: VALIDATED

Source sequence(s)

AK045274, AK162451, CF748582

Consensus CDS

CCDS23355.1

UniProtKB/Swiss-Prot

Q8BHI7, Q8BLG6, Q8BUE3, Q8R5D3

UniProtKB/TrEMBL

X2EXE4

Related

ENSMUSP00000034904.8, ENSMUST00000034904.14

Conserved Domains (1) summary

pfam01151
Location:27 → 261

ELO; GNS1/SUR4 family

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

77824647..77891801

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030244554.2 → XP_030100414.1 very long chain fatty acid elongase 5 isoform X1

UniProtKB/TrEMBL

X2EXE4

Conserved Domains (1) summary

pfam01151
Location:68 → 302

ELO; GNS1/SUR4 family
XM_011242807.2 → XP_011241109.2 very long chain fatty acid elongase 5 isoform X3

Conserved Domains (1) summary

pfam01151
Location:68 → 265

ELO; GNS1/SUR4 family
XM_006511400.1 → XP_006511463.1 very long chain fatty acid elongase 5 isoform X2

See identical proteins and their annotated locations for XP_006511463.1

UniProtKB/Swiss-Prot

Q8BHI7, Q8BLG6, Q8BUE3, Q8R5D3

UniProtKB/TrEMBL

X2EXE4

Conserved Domains (1) summary

pfam01151
Location:27 → 261

ELO; GNS1/SUR4 family