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Protein

Elongation of very long chain fatty acids protein 2

Gene

ELOVL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate to the production 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 annotation2 Publications

Pathwayi: polyunsaturated fatty acid biosynthesis

This protein is involved in the pathway polyunsaturated fatty acid biosynthesis, which is part of Lipid metabolism.UniRule annotation2 Publications
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

Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Biological processi

Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000096256-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

SwissLipidsiSLP:000000245.

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 2UniRule annotationCurated (EC:2.3.1.199UniRule annotation2 Publications)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL2UniRule annotation
ELOVL fatty acid elongase 2UniRule annotation
Short name:
ELOVL FA elongase 2UniRule annotation
Very long chain 3-ketoacyl-CoA synthase 2UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 2UniRule annotation
Gene namesi
Name:ELOVL2UniRule annotation
Synonyms:SSC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:14416. ELOVL2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalUniRule annotationAdd
BLAST
Transmembranei67 – 8721HelicalUniRule annotationAdd
BLAST
Transmembranei115 – 13521HelicalUniRule annotationAdd
BLAST
Transmembranei153 – 17321HelicalUniRule annotationAdd
BLAST
Transmembranei175 – 19521HelicalUniRule annotationAdd
BLAST
Transmembranei208 – 22518HelicalUniRule annotationAdd
BLAST
Transmembranei230 – 25021HelicalUniRule annotationAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27761.

Chemistry

ChEMBLiCHEMBL5911.

Polymorphism and mutation databases

BioMutaiELOVL2.
DMDMi187472388.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 296296Elongation of very long chain fatty acids protein 2PRO_0000207538Add
BLAST

Proteomic databases

MaxQBiQ9NXB9.
PaxDbiQ9NXB9.
PeptideAtlasiQ9NXB9.
PRIDEiQ9NXB9.

PTM databases

iPTMnetiQ9NXB9.
PhosphoSiteiQ9NXB9.

Expressioni

Tissue specificityi

Liver and testis.1 Publication

Gene expression databases

BgeeiENSG00000197977.
CleanExiHS_ELOVL2.
ExpressionAtlasiQ9NXB9. baseline and differential.
GenevisibleiQ9NXB9. HS.

Organism-specific databases

HPAiHPA031877.
HPA031878.

Interactioni

Protein-protein interaction databases

BioGridi120244. 9 interactions.
STRINGi9606.ENSP00000346693.

Chemistry

BindingDBiQ9NXB9.

Structurei

3D structure databases

ProteinModelPortaliQ9NXB9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi293 – 2964Di-lysine motifUniRule annotation

Domaini

The C-terminal di-lysine motif may confer endoplasmic reticulum localization.UniRule annotation

Sequence similaritiesi

Belongs to the ELO family. ELOVL2 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3071. Eukaryota.
ENOG410XRWT. LUCA.
GeneTreeiENSGT00760000119122.
HOGENOMiHOG000038120.
HOVERGENiHBG051468.
InParanoidiQ9NXB9.
KOiK10205.
OMAiFQSSYMM.
OrthoDBiEOG091G0N2V.
PhylomeDBiQ9NXB9.
TreeFamiTF323454.

Family and domain databases

HAMAPiMF_03202. VLCF_elongase_2. 1 hit.
InterProiIPR030457. ELO_CS.
IPR002076. ELO_fam.
IPR033680. ELOVL2.
[Graphical view]
PANTHERiPTHR11157. PTHR11157. 1 hit.
PTHR11157:SF16. PTHR11157:SF16. 1 hit.
PfamiPF01151. ELO. 1 hit.
[Graphical view]
PROSITEiPS01188. ELO. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NXB9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEHLKAFDDE INAFLDNMFG PRDSRVRGWF MLDSYLPTFF LTVMYLLSIW
60 70 80 90 100
LGNKYMKNRP ALSLRGILTL YNLGITLLSA YMLAELILST WEGGYNLQCQ
110 120 130 140 150
DLTSAGEADI RVAKVLWWYY FSKSVEFLDT IFFVLRKKTS QITFLHVYHH
160 170 180 190 200
ASMFNIWWCV LNWIPCGQSF FGPTLNSFIH ILMYSYYGLS VFPSMHKYLW
210 220 230 240 250
WKKYLTQAQL VQFVLTITHT MSAVVKPCGF PFGCLIFQSS YMLTLVILFL
260 270 280 290
NFYVQTYRKK PMKKDMQEPP AGKEVKNGFS KAYFTAANGV MNKKAQ
Length:296
Mass (Da):34,585
Last modified:February 26, 2008 - v2
Checksum:iCFB09952FBE90957
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311M → T in BAA91096 (PubMed:14702039).Curated
Sequence conflicti179 – 1791I → V in BAA91096 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161T → A.1 Publication
Corresponds to variant rs17855038 [ dbSNP | Ensembl ].
VAR_039039
Natural varianti225 – 2251V → M.
Corresponds to variant rs6919726 [ dbSNP | Ensembl ].
VAR_039040

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000341 mRNA. Translation: BAA91096.1.
AL121955 Genomic DNA. Translation: CAI22076.1.
CH471087 Genomic DNA. Translation: EAW55291.1.
BC050278 mRNA. Translation: AAH50278.2.
BC060809 mRNA. Translation: AAH60809.1.
CCDSiCCDS4518.1.
RefSeqiNP_060240.3. NM_017770.3.
UniGeneiHs.656436.

Genome annotation databases

EnsembliENST00000354666; ENSP00000346693; ENSG00000197977.
GeneIDi54898.
KEGGihsa:54898.
UCSCiuc003mzp.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000341 mRNA. Translation: BAA91096.1.
AL121955 Genomic DNA. Translation: CAI22076.1.
CH471087 Genomic DNA. Translation: EAW55291.1.
BC050278 mRNA. Translation: AAH50278.2.
BC060809 mRNA. Translation: AAH60809.1.
CCDSiCCDS4518.1.
RefSeqiNP_060240.3. NM_017770.3.
UniGeneiHs.656436.

3D structure databases

ProteinModelPortaliQ9NXB9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120244. 9 interactions.
STRINGi9606.ENSP00000346693.

Chemistry

BindingDBiQ9NXB9.
ChEMBLiCHEMBL5911.
SwissLipidsiSLP:000000245.

PTM databases

iPTMnetiQ9NXB9.
PhosphoSiteiQ9NXB9.

Polymorphism and mutation databases

BioMutaiELOVL2.
DMDMi187472388.

Proteomic databases

MaxQBiQ9NXB9.
PaxDbiQ9NXB9.
PeptideAtlasiQ9NXB9.
PRIDEiQ9NXB9.

Protocols and materials databases

DNASUi54898.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354666; ENSP00000346693; ENSG00000197977.
GeneIDi54898.
KEGGihsa:54898.
UCSCiuc003mzp.5. human.

Organism-specific databases

CTDi54898.
GeneCardsiELOVL2.
H-InvDBHIX0005578.
HGNCiHGNC:14416. ELOVL2.
HPAiHPA031877.
HPA031878.
MIMi611814. gene.
neXtProtiNX_Q9NXB9.
PharmGKBiPA27761.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3071. Eukaryota.
ENOG410XRWT. LUCA.
GeneTreeiENSGT00760000119122.
HOGENOMiHOG000038120.
HOVERGENiHBG051468.
InParanoidiQ9NXB9.
KOiK10205.
OMAiFQSSYMM.
OrthoDBiEOG091G0N2V.
PhylomeDBiQ9NXB9.
TreeFamiTF323454.

Enzyme and pathway databases

UniPathwayiUPA00658.
BioCyciMetaCyc:ENSG00000096256-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.

Miscellaneous databases

GenomeRNAii54898.
PROiQ9NXB9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197977.
CleanExiHS_ELOVL2.
ExpressionAtlasiQ9NXB9. baseline and differential.
GenevisibleiQ9NXB9. HS.

Family and domain databases

HAMAPiMF_03202. VLCF_elongase_2. 1 hit.
InterProiIPR030457. ELO_CS.
IPR002076. ELO_fam.
IPR033680. ELOVL2.
[Graphical view]
PANTHERiPTHR11157. PTHR11157. 1 hit.
PTHR11157:SF16. PTHR11157:SF16. 1 hit.
PfamiPF01151. ELO. 1 hit.
[Graphical view]
PROSITEiPS01188. ELO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiELOV2_HUMAN
AccessioniPrimary (citable) accession number: Q9NXB9
Secondary accession number(s): Q6P9E1, Q86W94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: February 26, 2008
Last modified: September 7, 2016
This is version 119 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.