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Protein

Elongation of very long chain fatty acids protein 6

Gene

ELOVL6

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 elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.UniRule annotation1 Publication

Catalytic activityi

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

Pathwayi: fatty acid biosynthesis

This protein is involved in the pathway 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 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:HS10142-MONOMER
BRENDAi2.3.1.119 2681
2.3.1.16 2681
ReactomeiR-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
UniPathwayiUPA00094

Chemistry databases

SwissLipidsiSLP:000000254

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 6UniRule annotationCurated (EC:2.3.1.199UniRule annotation1 Publication)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL6UniRule annotation
ELOVL fatty acid elongase 6UniRule annotation
Short name:
ELOVL FA elongase 6UniRule annotation
Fatty acid elongase 2
Short name:
hELO2
Fatty acyl-CoA elongase
Long-chain fatty-acyl elongase
Very long chain 3-ketoacyl-CoA synthase 6UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 6UniRule annotation
Gene namesi
Name:ELOVL6UniRule annotation
Synonyms:FACE, LCE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000170522.9
HGNCiHGNC:15829 ELOVL6
MIMi611546 gene
neXtProtiNX_Q9H5J4

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
Transmembranei34 – 51HelicalUniRule annotationAdd BLAST18
Transmembranei70 – 90HelicalUniRule annotationAdd BLAST21
Transmembranei111 – 131HelicalUniRule annotationAdd BLAST21
Transmembranei136 – 156HelicalUniRule annotationAdd BLAST21
Transmembranei159 – 179HelicalUniRule annotationAdd BLAST21
Transmembranei197 – 217HelicalUniRule annotationAdd BLAST21
Transmembranei232 – 252HelicalUniRule annotationAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi79071
OpenTargetsiENSG00000170522
PharmGKBiPA134939058

Chemistry databases

ChEMBLiCHEMBL5704

Polymorphism and mutation databases

BioMutaiELOVL6
DMDMi74733585

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002828451 – 265Elongation of very long chain fatty acids protein 6Add BLAST265

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi2N-linked (GlcNAc...) asparagineUniRule annotation1

Post-translational modificationi

N-Glycosylated.UniRule annotation1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9H5J4
PaxDbiQ9H5J4
PeptideAtlasiQ9H5J4
PRIDEiQ9H5J4

PTM databases

iPTMnetiQ9H5J4
PhosphoSitePlusiQ9H5J4

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000170522
CleanExiHS_ELOVL6
ExpressionAtlasiQ9H5J4 baseline and differential
GenevisibleiQ9H5J4 HS

Organism-specific databases

HPAiHPA042355

Interactioni

Protein-protein interaction databases

BioGridi122522, 2 interactors
IntActiQ9H5J4, 1 interactor
STRINGi9606.ENSP00000304736

Chemistry databases

BindingDBiQ9H5J4

Structurei

3D structure databases

ProteinModelPortaliQ9H5J4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ELO family. ELOVL6 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3072 Eukaryota
ENOG410Z3FZ LUCA
GeneTreeiENSGT00760000119122
HOGENOMiHOG000038943
HOVERGENiHBG099423
InParanoidiQ9H5J4
KOiK10203
OMAiEYEFERQ
OrthoDBiEOG091G0EKU
PhylomeDBiQ9H5J4
TreeFamiTF106467

Family and domain databases

HAMAPiMF_03206 VLCF_elongase_6, 1 hit
InterProiView protein in InterPro
IPR030457 ELO_CS
IPR002076 ELO_fam
IPR033675 ELOVL6
PANTHERiPTHR11157 PTHR11157, 1 hit
PTHR11157:SF42 PTHR11157:SF42, 1 hit
PfamiView protein in Pfam
PF01151 ELO, 1 hit
PROSITEiView protein in PROSITE
PS01188 ELO, 1 hit

Sequencei

Sequence statusi: Complete.

Q9H5J4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNMSVLTLQE YEFEKQFNEN EAIQWMQENW KKSFLFSALY AAFIFGGRHL
60 70 80 90 100
MNKRAKFELR KPLVLWSLTL AVFSIFGALR TGAYMVYILM TKGLKQSVCD
110 120 130 140 150
QGFYNGPVSK FWAYAFVLSK APELGDTIFI ILRKQKLIFL HWYHHITVLL
160 170 180 190 200
YSWYSYKDMV AGGGWFMTMN YGVHAVMYSY YALRAAGFRV SRKFAMFITL
210 220 230 240 250
SQITQMLMGC VVNYLVFCWM QHDQCHSHFQ NIFWSSLMYL SYLVLFCHFF
260
FEAYIGKMRK TTKAE
Length:265
Mass (Da):31,376
Last modified:March 1, 2001 - v1
Checksum:i01234E0EEF6CE341
GO

Sequence cautioni

The sequence BAC11225 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti10 – 11EY → KN in BAC11225 (PubMed:14702039).Curated2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074813 mRNA Translation: BAC11225.1 Different initiation.
AK027031 mRNA Translation: BAB15632.1
AC004050 Genomic DNA No translation available.
AC093770 Genomic DNA Translation: AAY40928.1
BC001305 mRNA Translation: AAH01305.1
CCDSiCCDS3690.1
RefSeqiNP_001124193.1, NM_001130721.1
NP_076995.1, NM_024090.2
XP_011530535.1, XM_011532233.2
XP_011530536.1, XM_011532234.2
UniGeneiHs.412939
Hs.652828

Genome annotation databases

EnsembliENST00000302274; ENSP00000304736; ENSG00000170522
ENST00000394607; ENSP00000378105; ENSG00000170522
GeneIDi79071
KEGGihsa:79071
UCSCiuc003hzz.4 human

Similar proteinsi

Entry informationi

Entry nameiELOV6_HUMAN
AccessioniPrimary (citable) accession number: Q9H5J4
Secondary accession number(s): Q4W5L0, Q8NCD1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: March 1, 2001
Last modified: March 28, 2018
This is version 122 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
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Main funding by: National Institutes of Health