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 4

Gene

ELOVL4

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 specifically elongates C24:0 and C26:0 acyl-CoAs. 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. May play a critical role in early brain and skin development.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:ENSG00000118402-MONOMER
ReactomeiR-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs
UniPathwayi
UPA00094

Chemistry databases

SwissLipidsiSLP:000000255

Names & Taxonomyi

Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 4UniRule annotationCurated (EC:2.3.1.199UniRule annotation1 Publication)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL4UniRule annotation
ELOVL fatty acid elongase 4UniRule annotation
Short name:
ELOVL FA elongase 4UniRule annotation
Very long chain 3-ketoacyl-CoA synthase 4UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 4UniRule annotation
Gene namesi
Name:ELOVL4UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000118402.5
HGNCiHGNC:14415 ELOVL4
MIMi605512 gene
neXtProtiNX_Q9GZR5

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
Transmembranei42 – 62HelicalUniRule annotationAdd BLAST21
Transmembranei78 – 98HelicalUniRule annotationAdd BLAST21
Transmembranei127 – 147HelicalUniRule annotationAdd BLAST21
Transmembranei165 – 185HelicalUniRule annotationAdd BLAST21
Transmembranei188 – 208HelicalUniRule annotationAdd BLAST21
Transmembranei217 – 237HelicalUniRule annotationAdd BLAST21
Transmembranei247 – 267HelicalUniRule annotationAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Stargardt disease 3 (STGD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
See also OMIM:600110
Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.
See also OMIM:614457
Spinocerebellar ataxia 34 (SCA34)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. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis.
See also OMIM:133190
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072565168L → F in SCA34. 1 PublicationCorresponds to variant dbSNP:rs587777598EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis, Mental retardation, Neurodegeneration, Spinocerebellar ataxia, Stargardt disease

Organism-specific databases

DisGeNETi6785
MalaCardsiELOVL4
MIMi133190 phenotype
600110 phenotype
614457 phenotype
OpenTargetsiENSG00000118402
Orphaneti352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia
1955 Spinocerebellar ataxia type 34
827 Stargardt disease
PharmGKBiPA27763

Chemistry databases

DrugBankiDB00132 Alpha-Linolenic Acid

Polymorphism and mutation databases

BioMutaiELOVL4
DMDMi20137966

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002075421 – 314Elongation of very long chain fatty acids protein 4Add BLAST314

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi20N-linked (GlcNAc...) asparagineUniRule annotation1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9GZR5
PaxDbiQ9GZR5
PeptideAtlasiQ9GZR5
PRIDEiQ9GZR5
ProteomicsDBi80120

PTM databases

iPTMnetiQ9GZR5
PhosphoSitePlusiQ9GZR5
SwissPalmiQ9GZR5

Expressioni

Tissue specificityi

Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.1 Publication

Gene expression databases

BgeeiENSG00000118402 Expressed in 176 organ(s), highest expression level in mammalian vulva
CleanExiHS_ELOVL4
GenevisibleiQ9GZR5 HS

Interactioni

Subunit structurei

Oligomer.UniRule annotation1 Publication

Protein-protein interaction databases

BioGridi112661, 9 interactors
IntActiQ9GZR5, 78 interactors
STRINGi9606.ENSP00000358831

Structurei

3D structure databases

ProteinModelPortaliQ9GZR5
SMRiQ9GZR5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi310 – 314Di-lysine motifUniRule annotation5

Domaini

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

Sequence similaritiesi

Belongs to the ELO family. ELOVL4 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3071 Eukaryota
ENOG410XRWT LUCA
GeneTreeiENSGT00760000119122
HOGENOMiHOG000038120
HOVERGENiHBG051468
InParanoidiQ9GZR5
KOiK10249
OMAiFLWLGPK
OrthoDBiEOG091G0N2V
PhylomeDBiQ9GZR5
TreeFamiTF323454

Family and domain databases

HAMAPiMF_03204 VLCF_elongase_4, 1 hit
InterProiView protein in InterPro
IPR030457 ELO_CS
IPR002076 ELO_fam
IPR033678 ELOVL4
PANTHERiPTHR11157 PTHR11157, 1 hit
PfamiView protein in Pfam
PF01151 ELO, 1 hit
PROSITEiView protein in PROSITE
PS01188 ELO, 1 hit

Sequencei

Sequence statusi: Complete.

Q9GZR5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGLLDSEPGS VLNVVSTALN DTVEFYRWTW SIADKRVENW PLMQSPWPTL
60 70 80 90 100
SISTLYLLFV WLGPKWMKDR EPFQMRLVLI IYNFGMVLLN LFIFRELFMG
110 120 130 140 150
SYNAGYSYIC QSVDYSNNVH EVRIAAALWW YFVSKGVEYL DTVFFILRKK
160 170 180 190 200
NNQVSFLHVY HHCTMFTLWW IGIKWVAGGQ AFFGAQLNSF IHVIMYSYYG
210 220 230 240 250
LTAFGPWIQK YLWWKRYLTM LQLIQFHVTI GHTALSLYTD CPFPKWMHWA
260 270 280 290 300
LIAYAISFIF LFLNFYIRTY KEPKKPKAGK TAMNGISANG VSKSEKQLMI
310
ENGKKQKNGK AKGD
Length:314
Mass (Da):36,829
Last modified:March 1, 2001 - v1
Checksum:iB2EBCE54D868E96E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44Q → R in AAH38506 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072565168L → F in SCA34. 1 PublicationCorresponds to variant dbSNP:rs587777598EnsemblClinVar.1
Natural variantiVAR_017043267I → T1 PublicationCorresponds to variant dbSNP:rs148594713EnsemblClinVar.1
Natural variantiVAR_012492299M → V2 PublicationsCorresponds to variant dbSNP:rs3812153EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279654
, AF279649, AF279650, AF279651, AF279652, AF279653 Genomic DNA Translation: AAG47669.1
AF277094 mRNA Translation: AAG47668.1
AY037298 mRNA Translation: AAK68639.1
AK055277 mRNA Translation: BAB70895.1
AK312511 mRNA Translation: BAG35412.1
AL133475 Genomic DNA No translation available.
AL132875 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48701.1
BC038506 mRNA Translation: AAH38506.1
CCDSiCCDS4992.1
RefSeqiNP_073563.1, NM_022726.3
UniGeneiHs.101915

Genome annotation databases

EnsembliENST00000369816; ENSP00000358831; ENSG00000118402
GeneIDi6785
KEGGihsa:6785
UCSCiuc003pja.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the ELOVL4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279654
, AF279649, AF279650, AF279651, AF279652, AF279653 Genomic DNA Translation: AAG47669.1
AF277094 mRNA Translation: AAG47668.1
AY037298 mRNA Translation: AAK68639.1
AK055277 mRNA Translation: BAB70895.1
AK312511 mRNA Translation: BAG35412.1
AL133475 Genomic DNA No translation available.
AL132875 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48701.1
BC038506 mRNA Translation: AAH38506.1
CCDSiCCDS4992.1
RefSeqiNP_073563.1, NM_022726.3
UniGeneiHs.101915

3D structure databases

ProteinModelPortaliQ9GZR5
SMRiQ9GZR5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112661, 9 interactors
IntActiQ9GZR5, 78 interactors
STRINGi9606.ENSP00000358831

Chemistry databases

DrugBankiDB00132 Alpha-Linolenic Acid
SwissLipidsiSLP:000000255

PTM databases

iPTMnetiQ9GZR5
PhosphoSitePlusiQ9GZR5
SwissPalmiQ9GZR5

Polymorphism and mutation databases

BioMutaiELOVL4
DMDMi20137966

Proteomic databases

EPDiQ9GZR5
PaxDbiQ9GZR5
PeptideAtlasiQ9GZR5
PRIDEiQ9GZR5
ProteomicsDBi80120

Protocols and materials databases

DNASUi6785
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369816; ENSP00000358831; ENSG00000118402
GeneIDi6785
KEGGihsa:6785
UCSCiuc003pja.5 human

Organism-specific databases

CTDi6785
DisGeNETi6785
EuPathDBiHostDB:ENSG00000118402.5
GeneCardsiELOVL4
HGNCiHGNC:14415 ELOVL4
MalaCardsiELOVL4
MIMi133190 phenotype
600110 phenotype
605512 gene
614457 phenotype
neXtProtiNX_Q9GZR5
OpenTargetsiENSG00000118402
Orphaneti352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia
1955 Spinocerebellar ataxia type 34
827 Stargardt disease
PharmGKBiPA27763
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3071 Eukaryota
ENOG410XRWT LUCA
GeneTreeiENSGT00760000119122
HOGENOMiHOG000038120
HOVERGENiHBG051468
InParanoidiQ9GZR5
KOiK10249
OMAiFLWLGPK
OrthoDBiEOG091G0N2V
PhylomeDBiQ9GZR5
TreeFamiTF323454

Enzyme and pathway databases

UniPathwayi
UPA00094

BioCyciMetaCyc:ENSG00000118402-MONOMER
ReactomeiR-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

Miscellaneous databases

GeneWikiiELOVL4
GenomeRNAii6785
PROiPR:Q9GZR5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118402 Expressed in 176 organ(s), highest expression level in mammalian vulva
CleanExiHS_ELOVL4
GenevisibleiQ9GZR5 HS

Family and domain databases

HAMAPiMF_03204 VLCF_elongase_4, 1 hit
InterProiView protein in InterPro
IPR030457 ELO_CS
IPR002076 ELO_fam
IPR033678 ELOVL4
PANTHERiPTHR11157 PTHR11157, 1 hit
PfamiView protein in Pfam
PF01151 ELO, 1 hit
PROSITEiView protein in PROSITE
PS01188 ELO, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiELOV4_HUMAN
AccessioniPrimary (citable) accession number: Q9GZR5
Secondary accession number(s): B2R6B5
, Q5TCS2, Q86YJ1, Q9H139
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 156 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again