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

Gene ID: 60481, updated on 5-Aug-2018

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; Vega:OTTHUMG00000016249
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

Genomic context

See ELOVL5 in Genome Data Viewer
Location:
6p12.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (53267398..53349179, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (53132196..53213977, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glial cells missing homolog 1 Neighboring gene RNA, U1 small nuclear 136, pseudogene Neighboring gene high mobility group box 1 pseudogene 20 Neighboring gene microRNA 5685 Neighboring gene uncharacterized LOC107986604 Neighboring gene ribosomal protein S16 pseudogene 5 Neighboring gene ribosomal protein L31 pseudogene 28 Neighboring gene ribosomal protein L31 pseudogene 33

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spinocerebellar ataxia 38
MedGen: C4014812 OMIM: 615957 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-oxo-arachidoyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-cerotoyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
3-oxo-lignoceronyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
fatty acid elongase activity EXP
Inferred from Experiment
more info
PubMed 
fatty acid elongase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid elongase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
very-long-chain 3-ketoacyl-CoA synthase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
dendritic tree IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
elongation of very long chain fatty acids protein 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)
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
NP_001229759.1
NP_001229760.1
NP_001288785.1
NP_068586.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_034263.1 RefSeqGene

    Range
    5001..86782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242828.1NP_001229757.1  elongation of very long chain fatty acids protein 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, DC345924
    Consensus CDS
    CCDS56433.1
    UniProtKB/Swiss-Prot
    Q9NYP7
    Related
    ENSP00000359956.5, ENST00000370918.8
    Conserved Domains (1) summary
    pfam01151
    Location:27288
    ELO; GNS1/SUR4 family
  2. NM_001242830.1NP_001229759.1  elongation of very long chain fatty acids protein 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/Swiss-Prot
    Q9NYP7
    UniProtKB/TrEMBL
    A0A0A0MTI6
    Related
    ENSP00000440728.2, ENST00000542638.5
    Conserved Domains (1) summary
    pfam01151
    Location:27170
    ELO; GNS1/SUR4 family
  3. NM_001242831.1NP_001229760.1  elongation of very long chain fatty acids protein 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, OTTHUMP00000017868, ENST00000370913.5, OTTHUMT00000043567
  4. NM_001301856.1NP_001288785.1  elongation of very long chain fatty acids protein 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, DB143083, DB225467
    Consensus CDS
    CCDS4951.1
    UniProtKB/Swiss-Prot
    Q9NYP7
    UniProtKB/TrEMBL
    A0A024RD35, B3KWH9
    Conserved Domains (1) summary
    pfam01151
    Location:27261
    ELO; GNS1/SUR4 family
  5. NM_021814.4NP_068586.1  elongation of very long chain fatty acids protein 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, DC345924
    Consensus CDS
    CCDS4951.1
    UniProtKB/Swiss-Prot
    Q9NYP7
    UniProtKB/TrEMBL
    A0A024RD35
    Related
    ENSP00000306640.6, OTTHUMP00000017867, ENST00000304434.10, OTTHUMT00000043566
    Conserved Domains (1) summary
    pfam01151
    Location:27261
    ELO; GNS1/SUR4 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    53267398..53349179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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