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Entry version 170 (22 Apr 2020)
Sequence version 1 (01 Mar 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the first and rate-limiting reaction of the four reactions 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 catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids 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 annotation2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000118402-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-75876 Synthesis of very long-chain fatty acyl-CoAs

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00094

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000255

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Elongation of very long chain fatty acids protein 4UniRule annotationCurated (EC:2.3.1.199UniRule annotation2 Publications)
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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ELOVL4UniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:14415 ELOVL4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605512 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9GZR5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
6785

MalaCards human disease database

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MalaCardsi
ELOVL4
MIMi133190 phenotype
600110 phenotype
614457 phenotype

Open Targets

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OpenTargetsi
ENSG00000118402

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
1955 Spinocerebellar ataxia type 34
827 Stargardt disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27763

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9GZR5 Tbio

Chemistry databases

Drug and drug target database

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DrugBanki
DB00132 alpha-Linolenic acid
DB09568 Omega-3-carboxylic acids
DB09328 Vayarin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ELOVL4

Domain mapping of disease mutations (DMDM)

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DMDMi
20137966

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002075421 – 314Elongation of very long chain fatty acids protein 4Add BLAST314

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi20N-linked (GlcNAc...) asparagineUniRule annotation1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9GZR5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9GZR5

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9GZR5

PeptideAtlas

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PeptideAtlasi
Q9GZR5

PRoteomics IDEntifications database

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PRIDEi
Q9GZR5

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
80120

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9GZR5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9GZR5

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9GZR5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000118402 Expressed in mammalian vulva and 175 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9GZR5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000118402 Tissue enhanced (lymphoid tissue, skin)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Oligomer.

UniRule annotation1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9GZR5
With#Exp.IntAct
ADGRE2 [Q9UHX3]3EBI-18535450,EBI-11277970
ANKRD46 - isoform 2 [Q86W74-2]3EBI-18535450,EBI-12109402
APOL3 - isoform 2 [O95236-2]3EBI-18535450,EBI-11976321
ATP13A1 - isoform C [Q9HD20-3]3EBI-18535450,EBI-12069500
BCL2L1 [Q07817]3EBI-18535450,EBI-78035
BET1 [O15155]3EBI-18535450,EBI-749204
BIK [Q13323]3EBI-18535450,EBI-700794
BNIP1 [Q12981]3EBI-18535450,EBI-4402847
BNIP3 [Q12983]3EBI-18535450,EBI-749464
BTN2A2 [Q8WVV5]3EBI-18535450,EBI-8648738
CCDC167 [Q9P0B6]3EBI-18535450,EBI-9083477
CCL4L2 [Q8NHW4]3EBI-18535450,EBI-10271156
CD70 [P32970]3EBI-18535450,EBI-18539709
CLDND2 [Q8NHS1]3EBI-18535450,EBI-11959453
CMTM3 [Q96MX0]3EBI-18535450,EBI-7247651
CMTM5 - isoform 2 [Q96DZ9-2]3EBI-18535450,EBI-11522780
CMTM7 [Q96FZ5]3EBI-18535450,EBI-2807956
COL4A5 - isoform 2 [P29400-2]3EBI-18535450,EBI-12211159
CYB5R3 [P00387]3EBI-18535450,EBI-1046040
CYP4F2 [P78329]3EBI-18535450,EBI-1752413
ERG28 [Q9UKR5]3EBI-18535450,EBI-711490
FA2H [Q7L5A8]3EBI-18535450,EBI-11337888
FAM177A1 - isoform 2 [Q8N128-2]3EBI-18535450,EBI-12201693
FAM3C [Q92520]3EBI-18535450,EBI-2876774
FAXDC2 [Q96IV6]3EBI-18535450,EBI-12142299
FDFT1 [P37268]3EBI-18535450,EBI-714550
FKBP8 [Q14318]3EBI-18535450,EBI-724839
FXYD6 [Q9H0Q3]3EBI-18535450,EBI-713304
GIMAP1 [Q8WWP7]3EBI-18535450,EBI-11991950
GIMAP5 [Q96F15]3EBI-18535450,EBI-6166686
GOSR2 [O14653]3EBI-18535450,EBI-4401517
GPR37L1 [O60883]3EBI-18535450,EBI-2927498
GYPA [P02724]3EBI-18535450,EBI-702665
HMOX1 [P09601]3EBI-18535450,EBI-2806151
HMOX2 [P30519]3EBI-18535450,EBI-712096
HSD3B7 [Q9H2F3]3EBI-18535450,EBI-3918847
IER3IP1 [Q9Y5U9]3EBI-18535450,EBI-725665
ITGAM [P11215]3EBI-18535450,EBI-2568251
JAGN1 [Q8N5M9]3EBI-18535450,EBI-10266796
LEPROTL1 [O95214]3EBI-18535450,EBI-750776
LHFPL5 [Q8TAF8]3EBI-18535450,EBI-2820517
LY6D [Q14210]3EBI-18535450,EBI-1965225
MALL [Q13021]3EBI-18535450,EBI-750078
MMP14 [P50281]3EBI-18535450,EBI-992788
NINJ2 [Q9NZG7]3EBI-18535450,EBI-10317425
ORMDL2 [Q53FV1]3EBI-18535450,EBI-11075081
ORMDL3 [Q8N138]3EBI-18535450,EBI-721750
PKMYT1 - isoform 2 [Q99640-2]3EBI-18535450,EBI-12257782
PLLP [Q9Y342]3EBI-18535450,EBI-3919291
PLN [P26678]3EBI-18535450,EBI-692836
PLP1 - isoform DM-20 [P60201-2]3EBI-18535450,EBI-12188331
PTPN1 [P18031]3EBI-18535450,EBI-968788
RAB18 [Q9NP72]3EBI-18535450,EBI-722247
RTP2 [Q5QGT7]3EBI-18535450,EBI-10244780
SEC22A [Q96IW7]3EBI-18535450,EBI-8652744
SEC22B [O75396]3EBI-18535450,EBI-1058865
SERF1B [O75920]3EBI-18535450,EBI-2115181
SERP2 [Q8N6R1]3EBI-18535450,EBI-749270
SFT2D2 [O95562]3EBI-18535450,EBI-4402330
SLC30A3 [Q99726]3EBI-18535450,EBI-10294651
SLC30A8 [Q8IWU4]3EBI-18535450,EBI-10262251
SNORC [Q6UX34]3EBI-18535450,EBI-11957067
STX3 [Q13277]3EBI-18535450,EBI-1394295
SYNDIG1 [Q9H7V2]3EBI-18535450,EBI-726331
TECR [Q9NZ01]3EBI-18535450,EBI-2877718
TF [P02787]3EBI-18535450,EBI-714319
TMEM11 [P17152]3EBI-18535450,EBI-723946
TMEM128 - isoform 2 [Q5BJH2-2]3EBI-18535450,EBI-10694905
TMEM19 [Q96HH6]3EBI-18535450,EBI-741829
TMEM199 [Q8N511]3EBI-18535450,EBI-10265825
TMEM203 [Q969S6]3EBI-18535450,EBI-12274070
TMEM218 [A2RU14]3EBI-18535450,EBI-10173151
TMEM222 [Q9H0R3]3EBI-18535450,EBI-347385
TMEM242 [Q9NWH2]3EBI-18535450,EBI-10315004
TMEM243 [Q9BU79]3EBI-18535450,EBI-12887458
TMEM254 [Q8TBM7]3EBI-18535450,EBI-11956809
TMEM42 [Q69YG0]3EBI-18535450,EBI-12038591
TMEM44 - isoform 2 [Q2T9K0-2]3EBI-18535450,EBI-13076526
TREX1 - isoform 1 [Q9NSU2-1]3EBI-18535450,EBI-16746122
TSNARE1 [A0AVG3]3EBI-18535450,EBI-12003468
TUSC5 [A5PKU2]3EBI-18535450,EBI-11988865
UBE2J1 [Q9Y385]3EBI-18535450,EBI-988826
UNC50 [Q53HI1]3EBI-18535450,EBI-7601760
VAMP1 - isoform 2 [P23763-3]3EBI-18535450,EBI-12097582
VAMP3 [Q15836]3EBI-18535450,EBI-722343
VAMP4 [O75379]3EBI-18535450,EBI-744953
VAMP5 [O95183]3EBI-18535450,EBI-10191195
VAPB [O95292]3EBI-18535450,EBI-1188298
YIF1A [O95070]3EBI-18535450,EBI-2799703
YIPF6 [Q96EC8]3EBI-18535450,EBI-751210
ZDHHC21 [Q8IVQ6]3EBI-18535450,EBI-2849773
ZFPL1 [O95159]3EBI-18535450,EBI-718439

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112661, 9 interactors

Protein interaction database and analysis system

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IntActi
Q9GZR5, 94 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358831

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9GZR5 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9GZR5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi310 – 314Di-lysine motifUniRule annotation5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ELO family. ELOVL4 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3071 Eukaryota
ENOG410XRWT LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00980000198567

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_048483_0_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9GZR5

KEGG Orthology (KO)

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KOi
K10249

Identification of Orthologs from Complete Genome Data

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OMAi
SIYIDCP

Database of Orthologous Groups

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OrthoDBi
1094172at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9GZR5

TreeFam database of animal gene trees

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TreeFami
TF323454

Family and domain databases

HAMAP database of protein families

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HAMAPi
MF_03204 VLCF_elongase_4, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030457 ELO_CS
IPR002076 ELO_fam
IPR033678 ELOVL4

The PANTHER Classification System

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PANTHERi
PTHR11157 PTHR11157, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01151 ELO, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01188 ELO, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB2EBCE54D868E96E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF279654 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

The Consensus CDS (CCDS) project

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CCDSi
CCDS4992.1

NCBI Reference Sequences

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RefSeqi
NP_073563.1, NM_022726.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000369816; ENSP00000358831; ENSG00000118402

Database of genes from NCBI RefSeq genomes

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GeneIDi
6785

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6785

UCSC genome browser

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UCSCi
uc003pja.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the ELOVL4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF279654 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

3D structure databases

SMRiQ9GZR5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112661, 9 interactors
IntActiQ9GZR5, 94 interactors
STRINGi9606.ENSP00000358831

Chemistry databases

DrugBankiDB00132 alpha-Linolenic acid
DB09568 Omega-3-carboxylic acids
DB09328 Vayarin
SwissLipidsiSLP:000000255

PTM databases

iPTMnetiQ9GZR5
PhosphoSitePlusiQ9GZR5
SwissPalmiQ9GZR5

Polymorphism and mutation databases

BioMutaiELOVL4
DMDMi20137966

Proteomic databases

EPDiQ9GZR5
MassIVEiQ9GZR5
PaxDbiQ9GZR5
PeptideAtlasiQ9GZR5
PRIDEiQ9GZR5
ProteomicsDBi80120

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31608 229 antibodies

The DNASU plasmid repository

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DNASUi
6785

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6785
DisGeNETi6785

GeneCards: human genes, protein and diseases

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GeneCardsi
ELOVL4
HGNCiHGNC:14415 ELOVL4
HPAiENSG00000118402 Tissue enhanced (lymphoid tissue, skin)
MalaCardsiELOVL4
MIMi133190 phenotype
600110 phenotype
605512 gene
614457 phenotype
neXtProtiNX_Q9GZR5
OpenTargetsiENSG00000118402
Orphaneti352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
1955 Spinocerebellar ataxia type 34
827 Stargardt disease
PharmGKBiPA27763

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3071 Eukaryota
ENOG410XRWT LUCA
GeneTreeiENSGT00980000198567
HOGENOMiCLU_048483_0_1_1
InParanoidiQ9GZR5
KOiK10249
OMAiSIYIDCP
OrthoDBi1094172at2759
PhylomeDBiQ9GZR5
TreeFamiTF323454

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ELOVL4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6785
PharosiQ9GZR5 Tbio

Protein Ontology

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PROi
PR:Q9GZR5
RNActiQ9GZR5 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000118402 Expressed in mammalian vulva and 175 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiELOV4_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9GZR5
Secondary accession number(s): B2R6B5
, Q5TCS2, Q86YJ1, Q9H139
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: April 22, 2020
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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