ELOVL5 ELOVL fatty acid elongase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELOVL5provided by HGNC
Official Full Name: ELOVL fatty acid elongase 5provided by HGNC
Primary source: HGNC:HGNC:21308
See related: Ensembl:ENSG00000012660 MIM:611805; AllianceGenome:HGNC:21308
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: HELO1; SCA38; dJ483K16.1
Summary: This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Expression: Broad expression in fat (RPKM 113.4), prostate (RPKM 59.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (53267404..53348950, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (53107162..53188820, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (53132202..53213748, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of Elovl5 promotes breast cancer metastasis through a lipid-droplet accumulation-mediated induction of TGF-beta receptors.
Title: Downregulation of Elovl5 promotes breast cancer metastasis through a lipid-droplet accumulation-mediated induction of TGF-β receptors.
ELOVL5-mediated fatty acid elongation promotes cellular proliferation and invasion in renal cell carcinoma.
Title: ELOVL5-mediated fatty acid elongation promotes cellular proliferation and invasion in renal cell carcinoma.
ELOVL5 Is a Critical and Targetable Fatty Acid Elongase in Prostate Cancer.
Title: ELOVL5 Is a Critical and Targetable Fatty Acid Elongase in Prostate Cancer.
The that maternal genetic variants in ELOVL2 and ELOVL5 were associated with PUFA levels in breast milk and that the combination of SNP haplotypes and higher DHA intake increased PUFA concentrations.
Title: DHA intake interacts with ELOVL2 and ELOVL5 genetic variants to influence polyunsaturated fatty acids in human milk.
The ELOVL5 gene was significantly differentially expressed in adipose tissues from unrelated type 2 diabetes (T2D) patients and in human pancreatic islets. The results demonstrate that blood-derived DNA methylation is associated with T2D risk as a proxy for cumulative epigenetic status in human adipose and pancreatic tissues.
Title: Genome-wide methylation analysis identifies ELOVL5 as an epigenetic biomarker for the risk of type 2 diabetes mellitus.
Low ELOVL5 expression is associated with colorectal cancer.
Title: Methylation associated transcriptional repression of ELOVL5 in novel colorectal cancer cell lines.
common variations associated with polyunsaturated fatty acid levels in breast milk
Title: Genetic Variants in the ELOVL5 but not ELOVL2 Gene Associated with Polyunsaturated Fatty Acids in Han Chinese Breast Milk.
SCA38 subtype is very rare in Mainland China; no disease-related gene mutations in ELOVL5.
Title: SCA38 is rare in Mainland China.
performed a detailed promoter/enhancer analysis of ELOVL5 gene, and identified two new SREBP binding sites, one in the 10 kb upstream region and one in the exon 1
Title: Identification of human ELOVL5 enhancer regions controlled by SREBP.
In transfection experiments, subcellular localization of altered ELOVL5 showed a perinuclear distribution with a signal increase in the Golgi compartment, whereas the wild-type showed a widespread signal in the endoplasmic reticulum.
Title: ELOVL5 mutations cause spinocerebellar ataxia 38.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia type 38 MedGen: C4518337 OMIM: 615957 GeneReviews: Spinocerebellar Ataxia Type 38	not available

EBI GWAS Catalog

Description
Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47678 (e-PCR)
- UniSTS:21814

D6S1213E (e-PCR)
- UniSTS:73573

SGC32472 (e-PCR)
- UniSTS:8824

A008D02 (e-PCR)
- UniSTS:70540

RH102363 (e-PCR)
- UniSTS:96697

D6S2076 (e-PCR)
- UniSTS:74442

RH93453 (e-PCR)
- UniSTS:90062

AL035167 (e-PCR)
- UniSTS:94681

Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid elongase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in alpha-linolenic acid metabolic process	TAS Traceable Author Statement more info
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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in linoleic acid metabolic process	TAS Traceable Author Statement more info
involved_in long-chain fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in positive regulation of fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendritic tree	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed

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 (FEN1/Elo2, SUR4/Elo3-like, yeast); elongation of very long chain fatty acids protein 5; fatty acid elongase 1; homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2; spinocerebellar ataxia 38; very long chain 3-ketoacyl-CoA synthase 5; very long chain 3-oxoacyl-CoA synthase 5

NP_001229757.1

EC 2.3.1.199

NP_001229759.1

EC 2.3.1.199

NP_001229760.1

EC 2.3.1.199

NP_001288785.1

EC 2.3.1.199

NP_068586.1

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.

Genomic

NG_034263.1 RefSeqGene

Range

5230..86776

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242828.2 → NP_001229757.1 very long chain fatty acid elongase 5 isoform 2

See identical proteins and their annotated locations for NP_001229757.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to variant 1. The resulting isoform (2) is longer with an internal protein segment of 27 aa that is not found in isoform 1.

Source sequence(s)

AF338241, AK302948, BC067123

Consensus CDS

CCDS56433.1

UniProtKB/TrEMBL

B3KWH9

Related

ENSP00000359956.5, ENST00000370918.8

Conserved Domains (1) summary

pfam01151
Location:27 → 288

ELO; GNS1/SUR4 family
NM_001242830.2 → NP_001229759.1 very long chain fatty acid elongase 5 isoform 3

See identical proteins and their annotated locations for NP_001229759.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal coding exon, which causes a frame-shift compared to variant 1. The resulting isoform (3) is shorter with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AB209798, AF338241, DC345924

Consensus CDS

CCDS75470.1

UniProtKB/TrEMBL

A0A0A0MTI6

Related

ENSP00000440728.2, ENST00000542638.5

Conserved Domains (1) summary

pfam01151
Location:27 → 170

ELO; GNS1/SUR4 family
NM_001242831.2 → NP_001229760.1 very long chain fatty acid elongase 5 isoform 4

See identical proteins and their annotated locations for NP_001229760.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several 3' exons and contains a novel 3' terminal exon compared to variant 1. The resulting isoform (4) is shorter with a distinct C-terminus compared to isoform 1.

Source sequence(s)

BC074503, DC345924

Consensus CDS

CCDS56434.1

UniProtKB/Swiss-Prot

Q9NYP7

Related

ENSP00000359951.5, ENST00000370913.5
NM_001301856.2 → NP_001288785.1 very long chain fatty acid elongase 5 isoform 1

See identical proteins and their annotated locations for NP_001288785.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 and 5 encode the same isoform (1).

Source sequence(s)

AF338241, AK125098, AL034374, DB143083, DB225467

Consensus CDS

CCDS4951.1

UniProtKB/Swiss-Prot

B4DZJ2, F6SH78, Q59EL3, Q5TGH5, Q6NXE7, Q7L2S5, Q8NCG4, Q9NYP7, Q9UI22

UniProtKB/TrEMBL

B3KWH9

Conserved Domains (1) summary

pfam01151
Location:27 → 261

ELO; GNS1/SUR4 family
NM_021814.5 → NP_068586.1 very long chain fatty acid elongase 5 isoform 1

See identical proteins and their annotated locations for NP_068586.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. Variants 1 and 5 encode the same isoform.

Source sequence(s)

AF338241

Consensus CDS

CCDS4951.1

UniProtKB/Swiss-Prot

B4DZJ2, F6SH78, Q59EL3, Q5TGH5, Q6NXE7, Q7L2S5, Q8NCG4, Q9NYP7, Q9UI22

UniProtKB/TrEMBL

B3KWH9

Related

ENSP00000306640.6, ENST00000304434.11

Conserved Domains (1) summary

pfam01151
Location:27 → 261

ELO; GNS1/SUR4 family