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Protein

Elongation of very long chain fatty acids protein 5

Gene

ELOVL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the first and rate-limiting reaction of the four that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.UniRule annotation2 Publications

Catalytic activityi

A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO2.UniRule annotation1 Publication

Pathwayi: polyunsaturated fatty acid biosynthesis

This protein is involved in the pathway polyunsaturated fatty acid biosynthesis, which is part of Lipid metabolism.UniRule annotation1 Publication
View all proteins of this organism that are known to be involved in the pathway polyunsaturated fatty acid biosynthesis and in Lipid metabolism.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000012660-MONOMER
BRENDAi2.3.1.119 2681
ReactomeiR-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
UniPathwayiUPA00658

Chemistry databases

SwissLipidsiSLP:000000253

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 5UniRule annotationCurated (EC:2.3.1.199UniRule annotation1 Publication)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL5UniRule annotation
ELOVL fatty acid elongase 5UniRule annotation
Short name:
ELOVL FA elongase 5UniRule annotation
Fatty acid elongase 1
Short name:
hELO1
Very long chain 3-ketoacyl-CoA synthase 5UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 5UniRule annotation
Gene namesi
Name:ELOVL5UniRule annotation
Synonyms:ELOVL2
ORF Names:PRO0530
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000012660.13
HGNCiHGNC:21308 ELOVL5
MIMi611805 gene
neXtProtiNX_Q9NYP7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei26 – 46HelicalUniRule annotationAdd BLAST21
Transmembranei64 – 84HelicalUniRule annotationAdd BLAST21
Transmembranei112 – 132HelicalUniRule annotationAdd BLAST21
Transmembranei139 – 158HelicalUniRule annotationAdd BLAST20
Transmembranei168 – 187HelicalUniRule annotationAdd BLAST20
Transmembranei205 – 225HelicalUniRule annotationAdd BLAST21
Transmembranei226 – 246HelicalUniRule annotationAdd BLAST21

Keywords - Cellular componenti

Cell projection, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 38 (SCA38)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
See also OMIM:615957
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236172L → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777671EnsemblClinVar.1
Natural variantiVAR_072362230G → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777670EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi60481
MalaCardsiELOVL5
MIMi615957 phenotype
OpenTargetsiENSG00000012660
PharmGKBiPA128394703

Chemistry databases

ChEMBLiCHEMBL5937

Polymorphism and mutation databases

BioMutaiELOVL5
DMDMi74753072

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002828381 – 299Elongation of very long chain fatty acids protein 5Add BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei285PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9NYP7
MaxQBiQ9NYP7
PeptideAtlasiQ9NYP7
PRIDEiQ9NYP7
ProteomicsDBi83259

PTM databases

iPTMnetiQ9NYP7
PhosphoSitePlusiQ9NYP7
SwissPalmiQ9NYP7

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum.3 Publications

Gene expression databases

BgeeiENSG00000012660
CleanExiHS_ELOVL2
HS_ELOVL5
ExpressionAtlasiQ9NYP7 baseline and differential
GenevisibleiQ9NYP7 HS

Organism-specific databases

HPAiCAB017042
HPA047752
HPA054197

Interactioni

Protein-protein interaction databases

BioGridi121914, 13 interactors
IntActiQ9NYP7, 14 interactors

Chemistry databases

BindingDBiQ9NYP7

Structurei

3D structure databases

ProteinModelPortaliQ9NYP7
SMRiQ9NYP7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ELO family. ELOVL5 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00760000119122
HOGENOMiHOG000139716
HOVERGENiHBG051468
InParanoidiQ9NYP7
KOiK10244
OMAiNVKPRKQ
OrthoDBiEOG091G0N2V
PhylomeDBiQ9NYP7
TreeFamiTF323454

Family and domain databases

HAMAPiMF_03205 VLCF_elongase_5, 1 hit
InterProiView protein in InterPro
IPR002076 ELO_fam
IPR033677 ELOVL5
PANTHERiPTHR11157 PTHR11157, 1 hit
PTHR11157:SF18 PTHR11157:SF18, 1 hit
PfamiView protein in Pfam
PF01151 ELO, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NYP7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEHFDASLST YFKALLGPRD TRVKGWFLLD NYIPTFICSV IYLLIVWLGP
60 70 80 90 100
KYMRNKQPFS CRGILVVYNL GLTLLSLYMF CELVTGVWEG KYNFFCQGTR
110 120 130 140 150
TAGESDMKII RVLWWYYFSK LIEFMDTFFF ILRKNNHQIT VLHVYHHASM
160 170 180 190 200
LNIWWFVMNW VPCGHSYFGA TLNSFIHVLM YSYYGLSSVP SMRPYLWWKK
210 220 230 240 250
YITQGQLLQF VLTIIQTSCG VIWPCTFPLG WLYFQIGYMI SLIALFTNFY
260 270 280 290
IQTYNKKGAS RRKDHLKDHQ NGSMAAVNGH TNSFSPLENN VKPRKLRKD
Length:299
Mass (Da):35,293
Last modified:October 1, 2000 - v1
Checksum:iAE5150AA3432E984
GO
Isoform 2 (identifier: Q9NYP7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: E → ESKREQPRRSACASRTDPSTQQQLPENR

Note: No experimental confirmation available.
Show »
Length:326
Mass (Da):38,403
Checksum:iDAFA9400ACB27FB1
GO
Isoform 3 (identifier: Q9NYP7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-88: DTRVKGWFLL...MFCELVTGVW → GISSSVLRMG...LATIASHAPA
     89-299: Missing.

Note: No experimental confirmation available.
Show »
Length:88
Mass (Da):9,580
Checksum:i449F6D2F7A7E4BF1
GO

Sequence cautioni

The sequence AAF16688 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC11178 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti59F → L in BAG64104 (PubMed:14702039).Curated1
Sequence conflicti167 – 262YFGAT…GASRR → SVCADNHPDQLRGHLAVHIP SWLVVFPDWIHDFPDCSLHK LLHSDLQQERGLPKERPPEG PPEWVHGCCEWTHQQLFTPG KQCEAKEAAEGLKSKN in BAD93035 (PubMed:14702039).CuratedAdd BLAST96
Sequence conflicti204 – 206QGQ → EFH in BAC11178 (PubMed:16303743).Curated3
Sequence conflicti227F → S in BAC11178 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236172L → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777671EnsemblClinVar.1
Natural variantiVAR_072362230G → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777670EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04591720 – 88DTRVK…VTGVW → GISSSVLRMGPPLHTVVGWL QQLQAAHSEEEEKMFHLCGF KHKEVVSQSSLPAVIPQNSL ATIASHAPA in isoform 3. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_04591882E → ESKREQPRRSACASRTDPST QQQLPENR in isoform 2. 1 Publication1
Alternative sequenceiVSP_04591989 – 299Missing in isoform 3. 1 PublicationAdd BLAST211

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231981 mRNA Translation: AAF70631.1
AF338241 mRNA Translation: AAM00193.1
AL136939 mRNA Translation: CAB66873.1
AK074889 mRNA Translation: BAC11270.1
AK302948 mRNA Translation: BAG64104.1
AB209798 mRNA Translation: BAD93035.1
AL034374 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04419.1
BC017270 mRNA Translation: AAH17270.2
BC067123 mRNA Translation: AAH67123.2
BC074503 mRNA No translation available.
AK074748 mRNA Translation: BAC11178.1 Different initiation.
AF111849 mRNA Translation: AAF16688.1 Different initiation.
CCDSiCCDS4951.1 [Q9NYP7-1]
CCDS56433.1 [Q9NYP7-2]
CCDS56434.1 [Q9NYP7-3]
RefSeqiNP_001229757.1, NM_001242828.1 [Q9NYP7-2]
NP_001229759.1, NM_001242830.1
NP_001229760.1, NM_001242831.1 [Q9NYP7-3]
NP_001288785.1, NM_001301856.1 [Q9NYP7-1]
NP_068586.1, NM_021814.4 [Q9NYP7-1]
UniGeneiHs.520189

Genome annotation databases

EnsembliENST00000304434; ENSP00000306640; ENSG00000012660 [Q9NYP7-1]
ENST00000370913; ENSP00000359951; ENSG00000012660 [Q9NYP7-3]
ENST00000370918; ENSP00000359956; ENSG00000012660 [Q9NYP7-2]
GeneIDi60481
KEGGihsa:60481
UCSCiuc003pbr.3 human [Q9NYP7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiELOV5_HUMAN
AccessioniPrimary (citable) accession number: Q9NYP7
Secondary accession number(s): B4DZJ2
, F6SH78, Q59EL3, Q5TGH5, Q6NXE7, Q7L2S5, Q8NCG4, Q9UI22
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 1, 2000
Last modified: July 18, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

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