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Protein

Elongation of very long chain fatty acids protein 4

Gene

ELOVL4

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. 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

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:ENSG00000118402-MONOMER.
ZFISH:ENSG00000118402-MONOMER.
ReactomeiR-HSA-75876. Synthesis of very long-chain fatty acyl-CoAs.
UniPathwayiUPA00094.

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

HGNCiHGNC:14415. ELOVL4.

Subcellular locationi

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

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

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 rs587777598dbSNPEnsembl.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...)UniRule annotation1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9GZR5.
PaxDbiQ9GZR5.
PeptideAtlasiQ9GZR5.
PRIDEiQ9GZR5.

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.
CleanExiHS_ELOVL4.
GenevisibleiQ9GZR5. HS.

Interactioni

Subunit structurei

Oligomer.UniRule annotation1 Publication

Protein-protein interaction databases

BioGridi112661. 6 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.
OMAiFYVRTYK.
OrthoDBiEOG091G0N2V.
PhylomeDBiQ9GZR5.
TreeFamiTF323454.

Family and domain databases

HAMAPiMF_03204. VLCF_elongase_4. 1 hit.
InterProiIPR030457. ELO_CS.
IPR002076. ELO_fam.
IPR033678. ELOVL4.
[Graphical view]
PANTHERiPTHR11157. PTHR11157. 1 hit.
PfamiPF01151. ELO. 1 hit.
[Graphical view]
PROSITEiPS01188. ELO. 1 hit.
[Graphical view]

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 rs587777598dbSNPEnsembl.1
Natural variantiVAR_017043267I → T.1 PublicationCorresponds to variant rs148594713dbSNPEnsembl.1
Natural variantiVAR_012492299M → V.2 PublicationsCorresponds to variant rs3812153dbSNPEnsembl.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, AL132875 Genomic DNA. Translation: CAI20320.1.
AL132875, AL133475 Genomic DNA. Translation: CAI23374.1.
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

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, AL132875 Genomic DNA. Translation: CAI20320.1.
AL132875, AL133475 Genomic DNA. Translation: CAI23374.1.
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. 6 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.

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.
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.
OMAiFYVRTYK.
OrthoDBiEOG091G0N2V.
PhylomeDBiQ9GZR5.
TreeFamiTF323454.

Enzyme and pathway databases

UniPathwayiUPA00094.
BioCyciMetaCyc:ENSG00000118402-MONOMER.
ZFISH:ENSG00000118402-MONOMER.
ReactomeiR-HSA-75876. Synthesis of very long-chain fatty acyl-CoAs.

Miscellaneous databases

GeneWikiiELOVL4.
GenomeRNAii6785.
PROiQ9GZR5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118402.
CleanExiHS_ELOVL4.
GenevisibleiQ9GZR5. HS.

Family and domain databases

HAMAPiMF_03204. VLCF_elongase_4. 1 hit.
InterProiIPR030457. ELO_CS.
IPR002076. ELO_fam.
IPR033678. ELOVL4.
[Graphical view]
PANTHERiPTHR11157. PTHR11157. 1 hit.
PfamiPF01151. ELO. 1 hit.
[Graphical view]
PROSITEiPS01188. ELO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiELOV4_HUMAN
AccessioniPrimary (citable) accession number: Q9GZR5
Secondary accession number(s): B2R6B5
, Q5TCS2, Q86YJ1, Q9H139
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: November 2, 2016
This is version 142 of the entry and version 1 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.