Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Elongation of very long chain fatty acids protein 1

Gene

ELOVL1

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 exhibits activity toward saturated C18 to C26 acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs.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: fatty acid biosynthesis

This protein is involved in the pathway 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 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

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
UniPathwayiUPA00094

Chemistry databases

SwissLipidsiSLP:000000249

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 1UniRule annotationCurated (EC:2.3.1.199UniRule annotation2 Publications)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL1UniRule annotation
ELOVL fatty acid elongase 1UniRule annotation
Short name:
ELOVL FA elongase 1UniRule annotation
Very long chain 3-ketoacyl-CoA synthase 1UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 1UniRule annotation
Gene namesi
Name:ELOVL1UniRule annotation
Synonyms:SSC1
ORF Names:CGI-88
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000066322.12
HGNCiHGNC:14418 ELOVL1
MIMi611813 gene
neXtProtiNX_Q9BW60

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
Transmembranei23 – 43HelicalUniRule annotationAdd BLAST21
Transmembranei61 – 81HelicalUniRule annotationAdd BLAST21
Transmembranei110 – 130HelicalUniRule annotationAdd BLAST21
Transmembranei137 – 154HelicalUniRule annotationAdd BLAST18
Transmembranei176 – 196HelicalUniRule annotationAdd BLAST21
Transmembranei201 – 221HelicalUniRule annotationAdd BLAST21
Transmembranei231 – 251HelicalUniRule annotationAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi64834
OpenTargetsiENSG00000066322
PharmGKBiPA27760

Chemistry databases

ChEMBLiCHEMBL6001

Polymorphism and mutation databases

BioMutaiELOVL1
DMDMi20137931

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002075361 – 279Elongation of very long chain fatty acids protein 1Add BLAST279

Amino acid modifications

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

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9BW60
MaxQBiQ9BW60
PaxDbiQ9BW60
PeptideAtlasiQ9BW60
PRIDEiQ9BW60
TopDownProteomicsiQ9BW60-1 [Q9BW60-1]

PTM databases

iPTMnetiQ9BW60
PhosphoSitePlusiQ9BW60
SwissPalmiQ9BW60

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000066322
CleanExiHS_ELOVL1
GenevisibleiQ9BW60 HS

Organism-specific databases

HPAiCAB033426
HPA056557

Interactioni

Subunit structurei

Interacts with LASS2, TECR and HSD17B12.UniRule annotation1 Publication

Protein-protein interaction databases

BioGridi122312, 12 interactors
IntActiQ9BW60, 3 interactors
STRINGi9606.ENSP00000361536

Chemistry databases

BindingDBiQ9BW60

Structurei

3D structure databases

ProteinModelPortaliQ9BW60
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi275 – 279Di-lysine motifUniRule annotation5

Domaini

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

Sequence similaritiesi

Belongs to the ELO family. ELOVL1 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3071 Eukaryota
ENOG410XRWT LUCA
GeneTreeiENSGT00760000119122
HOGENOMiHOG000038120
HOVERGENiHBG051468
InParanoidiQ9BW60
KOiK10247
OMAiMINSSVH
OrthoDBiEOG091G0N2V
PhylomeDBiQ9BW60
TreeFamiTF323454

Family and domain databases

HAMAPiMF_03201 VLCF_elongase_1, 1 hit
InterProiView protein in InterPro
IPR030457 ELO_CS
IPR002076 ELO_fam
IPR033681 ELOVL1
PANTHERiPTHR11157 PTHR11157, 1 hit
PfamiView protein in Pfam
PF01151 ELO, 1 hit
PROSITEiView protein in PROSITE
PS01188 ELO, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BW60-1) [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
MEAVVNLYQE VMKHADPRIQ GYPLMGSPLL MTSILLTYVY FVLSLGPRIM
60 70 80 90 100
ANRKPFQLRG FMIVYNFSLV ALSLYIVYEF LMSGWLSTYT WRCDPVDYSN
110 120 130 140 150
SPEALRMVRV AWLFLFSKFI ELMDTVIFIL RKKDGQVTFL HVFHHSVLPW
160 170 180 190 200
SWWWGVKIAP GGMGSFHAMI NSSVHVIMYL YYGLSAFGPV AQPYLWWKKH
210 220 230 240 250
MTAIQLIQFV LVSLHISQYY FMSSCNYQYP VIIHLIWMYG TIFFMLFSNF
260 270
WYHSYTKGKR LPRALQQNGA PGIAKVKAN
Length:279
Mass (Da):32,663
Last modified:June 1, 2001 - v1
Checksum:iB168EE4C7EAF92A6
GO
Isoform 2 (identifier: Q9BW60-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     80-106: Missing.

Show »
Length:252
Mass (Da):29,485
Checksum:i027A10BA1FC68054
GO

Sequence cautioni

The sequence AAD34083 differs from that shown. Reason: Frameshift at position 189.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti68S → P in BAA91813 (PubMed:14702039).Curated1
Sequence conflicti75Y → H in AAL71993 (Ref. 1) Curated1
Sequence conflicti201M → T in BAD96218 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04543680 – 106Missing in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF336793 mRNA Translation: AAL71993.1
AF151846 mRNA Translation: AAD34083.1 Frameshift.
AK001653 mRNA Translation: BAA91813.1
AK222498 mRNA Translation: BAD96218.1
AK298163 mRNA Translation: BAG60436.1
AL139289 Genomic DNA No translation available.
BC000618 mRNA Translation: AAH00618.1
CCDSiCCDS485.1 [Q9BW60-1]
CCDS57987.1 [Q9BW60-2]
RefSeqiNP_001243328.1, NM_001256399.1 [Q9BW60-1]
NP_001243330.1, NM_001256401.1 [Q9BW60-2]
NP_001243331.1, NM_001256402.1
NP_073732.1, NM_022821.3 [Q9BW60-1]
UniGeneiHs.25597

Genome annotation databases

EnsembliENST00000372458; ENSP00000361536; ENSG00000066322 [Q9BW60-1]
ENST00000413844; ENSP00000416024; ENSG00000066322 [Q9BW60-2]
ENST00000621943; ENSP00000477602; ENSG00000066322 [Q9BW60-1]
GeneIDi64834
KEGGihsa:64834
UCSCiuc001cjb.5 human [Q9BW60-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiELOV1_HUMAN
AccessioniPrimary (citable) accession number: Q9BW60
Secondary accession number(s): B4DP24
, Q53HT2, Q5JUY3, Q8WXU3, Q9NVD9, Q9Y396
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 146 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health