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Entry version 155 (16 Oct 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Elongation of very long chain fatty acids protein 5

Gene

ELOVL5

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 acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity).UniRule annotationBy similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: polyunsaturated fatty acid biosynthesis

This protein is involved in the pathway polyunsaturated 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 polyunsaturated 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:ENSG00000012660-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.3.1.119 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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

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

More...
UniPathwayi
UPA00658

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000253

<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_and_taxonomy_section">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 5UniRule annotationCurated (EC:2.3.1.199UniRule annotation3 Publications)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL5UniRule annotation
ELOVL fatty acid elongase 5UniRule annotation
Short name:
ELOVL FA elongase 5UniRule annotation
Fatty acid elongase 1
Short name:
hELO1
Very long chain 3-ketoacyl-CoA synthase 5UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 5UniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ELOVL5UniRule annotation
Synonyms:ELOVL2
ORF Names:PRO0530
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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:21308 ELOVL5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611805 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NYP7

<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_location_section">'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>Transmembranei26 – 46HelicalUniRule annotationAdd BLAST21
Transmembranei64 – 84HelicalUniRule annotationAdd BLAST21
Transmembranei112 – 132HelicalUniRule annotationAdd BLAST21
Transmembranei139 – 158HelicalUniRule annotationAdd BLAST20
Transmembranei168 – 187HelicalUniRule annotationAdd BLAST20
Transmembranei205 – 225HelicalUniRule annotationAdd BLAST21
Transmembranei226 – 246HelicalUniRule annotationAdd BLAST21

Keywords - Cellular componenti

Cell projection, 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

Spinocerebellar ataxia 38 (SCA38)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. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy.
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_07236172L → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777671EnsemblClinVar.1
Natural variantiVAR_072362230G → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777670EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

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DisGeNETi
60481

MalaCards human disease database

More...
MalaCardsi
ELOVL5
MIMi615957 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000012660

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

More...
Orphaneti
423296 Spinocerebellar ataxia type 38

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394703

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NYP7

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5937

Drug and drug target database

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DrugBanki
DB11358 Evening primrose oil

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ELOVL5

Domain mapping of disease mutations (DMDM)

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DMDMi
74753072

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002828381 – 299Elongation of very long chain fatty acids protein 5Add BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei285PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NYP7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NYP7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NYP7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NYP7

PeptideAtlas

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PeptideAtlasi
Q9NYP7

PRoteomics IDEntifications database

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PRIDEi
Q9NYP7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
27928
65118
83259 [Q9NYP7-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NYP7

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

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PhosphoSitePlusi
Q9NYP7

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q9NYP7

<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

Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000012660 Expressed in 235 organ(s), highest expression level in adipose tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NYP7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NYP7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB017042
HPA047752
HPA054197

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121914, 13 interactors

Protein interaction database and analysis system

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IntActi
Q9NYP7, 19 interactors

Molecular INTeraction database

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MINTi
Q9NYP7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000359956

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9NYP7

<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
Q9NYP7

Database of comparative protein structure models

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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

<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. ELOVL5 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00970000193335

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000038120

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NYP7

KEGG Orthology (KO)

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KOi
K10244

Identification of Orthologs from Complete Genome Data

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OMAi
CAVVWPC

Database of Orthologous Groups

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OrthoDBi
1094172at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NYP7

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_03205 VLCF_elongase_5, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002076 ELO_fam
IPR033677 ELOVL5

The PANTHER Classification System

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PANTHERi
PTHR11157 PTHR11157, 1 hit
PTHR11157:SF18 PTHR11157:SF18, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01151 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_length">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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NYP7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEHFDASLST YFKALLGPRD TRVKGWFLLD NYIPTFICSV IYLLIVWLGP
60 70 80 90 100
KYMRNKQPFS CRGILVVYNL GLTLLSLYMF CELVTGVWEG KYNFFCQGTR
110 120 130 140 150
TAGESDMKII RVLWWYYFSK LIEFMDTFFF ILRKNNHQIT VLHVYHHASM
160 170 180 190 200
LNIWWFVMNW VPCGHSYFGA TLNSFIHVLM YSYYGLSSVP SMRPYLWWKK
210 220 230 240 250
YITQGQLLQF VLTIIQTSCG VIWPCTFPLG WLYFQIGYMI SLIALFTNFY
260 270 280 290
IQTYNKKGAS RRKDHLKDHQ NGSMAAVNGH TNSFSPLENN VKPRKLRKD
Length:299
Mass (Da):35,293
Last modified:October 1, 2000 - 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:iAE5150AA3432E984
GO
Isoform 2 (identifier: Q9NYP7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-82: E → ESKREQPRRSACASRTDPSTQQQLPENR

Note: No experimental confirmation available.
Show »
Length:326
Mass (Da):38,403
Checksum:iDAFA9400ACB27FB1
GO
Isoform 3 (identifier: Q9NYP7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-88: DTRVKGWFLL...MFCELVTGVW → GISSSVLRMG...LATIASHAPA
     89-299: Missing.

Note: No experimental confirmation available.
Show »
Length:88
Mass (Da):9,580
Checksum:i449F6D2F7A7E4BF1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTI6A0A0A0MTI6_HUMAN
Elongation of very long chain fatty...
ELOVL5 hCG_2001424
262Annotation score:

Annotation score:3 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF16688 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC11178 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti59F → L in BAG64104 (PubMed:14702039).Curated1
Sequence conflicti167 – 262YFGAT…GASRR → SVCADNHPDQLRGHLAVHIP SWLVVFPDWIHDFPDCSLHK LLHSDLQQERGLPKERPPEG PPEWVHGCCEWTHQQLFTPG KQCEAKEAAEGLKSKN in BAD93035 (PubMed:14702039).CuratedAdd BLAST96
Sequence conflicti204 – 206QGQ → EFH in BAC11178 (PubMed:16303743).Curated3
Sequence conflicti227F → S in BAC11178 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236172L → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777671EnsemblClinVar.1
Natural variantiVAR_072362230G → V in SCA38. 1 PublicationCorresponds to variant dbSNP:rs587777670EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04591720 – 88DTRVK…VTGVW → GISSSVLRMGPPLHTVVGWL QQLQAAHSEEEEKMFHLCGF KHKEVVSQSSLPAVIPQNSL ATIASHAPA in isoform 3. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_04591882E → ESKREQPRRSACASRTDPST QQQLPENR in isoform 2. 1 Publication1
Alternative sequenceiVSP_04591989 – 299Missing in isoform 3. 1 PublicationAdd BLAST211

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
AF231981 mRNA Translation: AAF70631.1
AF338241 mRNA Translation: AAM00193.1
AL136939 mRNA Translation: CAB66873.1
AK074889 mRNA Translation: BAC11270.1
AK302948 mRNA Translation: BAG64104.1
AB209798 mRNA Translation: BAD93035.1
AL034374 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04419.1
BC017270 mRNA Translation: AAH17270.2
BC067123 mRNA Translation: AAH67123.2
BC074503 mRNA No translation available.
AK074748 mRNA Translation: BAC11178.1 Different initiation.
AF111849 mRNA Translation: AAF16688.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS4951.1 [Q9NYP7-1]
CCDS56433.1 [Q9NYP7-2]
CCDS56434.1 [Q9NYP7-3]

NCBI Reference Sequences

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RefSeqi
NP_001229757.1, NM_001242828.1 [Q9NYP7-2]
NP_001229759.1, NM_001242830.1
NP_001229760.1, NM_001242831.1 [Q9NYP7-3]
NP_001288785.1, NM_001301856.1 [Q9NYP7-1]
NP_068586.1, NM_021814.4 [Q9NYP7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000304434; ENSP00000306640; ENSG00000012660 [Q9NYP7-1]
ENST00000370913; ENSP00000359951; ENSG00000012660 [Q9NYP7-3]
ENST00000370918; ENSP00000359956; ENSG00000012660 [Q9NYP7-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
60481

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:60481

UCSC genome browser

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UCSCi
uc003pbr.3 human [Q9NYP7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF231981 mRNA Translation: AAF70631.1
AF338241 mRNA Translation: AAM00193.1
AL136939 mRNA Translation: CAB66873.1
AK074889 mRNA Translation: BAC11270.1
AK302948 mRNA Translation: BAG64104.1
AB209798 mRNA Translation: BAD93035.1
AL034374 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04419.1
BC017270 mRNA Translation: AAH17270.2
BC067123 mRNA Translation: AAH67123.2
BC074503 mRNA No translation available.
AK074748 mRNA Translation: BAC11178.1 Different initiation.
AF111849 mRNA Translation: AAF16688.1 Different initiation.
CCDSiCCDS4951.1 [Q9NYP7-1]
CCDS56433.1 [Q9NYP7-2]
CCDS56434.1 [Q9NYP7-3]
RefSeqiNP_001229757.1, NM_001242828.1 [Q9NYP7-2]
NP_001229759.1, NM_001242830.1
NP_001229760.1, NM_001242831.1 [Q9NYP7-3]
NP_001288785.1, NM_001301856.1 [Q9NYP7-1]
NP_068586.1, NM_021814.4 [Q9NYP7-1]

3D structure databases

SMRiQ9NYP7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121914, 13 interactors
IntActiQ9NYP7, 19 interactors
MINTiQ9NYP7
STRINGi9606.ENSP00000359956

Chemistry databases

BindingDBiQ9NYP7
ChEMBLiCHEMBL5937
DrugBankiDB11358 Evening primrose oil
SwissLipidsiSLP:000000253

PTM databases

iPTMnetiQ9NYP7
PhosphoSitePlusiQ9NYP7
SwissPalmiQ9NYP7

Polymorphism and mutation databases

BioMutaiELOVL5
DMDMi74753072

Proteomic databases

EPDiQ9NYP7
jPOSTiQ9NYP7
MassIVEiQ9NYP7
MaxQBiQ9NYP7
PeptideAtlasiQ9NYP7
PRIDEiQ9NYP7
ProteomicsDBi27928
65118
83259 [Q9NYP7-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
60481

Genome annotation databases

EnsembliENST00000304434; ENSP00000306640; ENSG00000012660 [Q9NYP7-1]
ENST00000370913; ENSP00000359951; ENSG00000012660 [Q9NYP7-3]
ENST00000370918; ENSP00000359956; ENSG00000012660 [Q9NYP7-2]
GeneIDi60481
KEGGihsa:60481
UCSCiuc003pbr.3 human [Q9NYP7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
60481
DisGeNETi60481

GeneCards: human genes, protein and diseases

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GeneCardsi
ELOVL5
HGNCiHGNC:21308 ELOVL5
HPAiCAB017042
HPA047752
HPA054197
MalaCardsiELOVL5
MIMi611805 gene
615957 phenotype
neXtProtiNX_Q9NYP7
OpenTargetsiENSG00000012660
Orphaneti423296 Spinocerebellar ataxia type 38
PharmGKBiPA128394703

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00970000193335
HOGENOMiHOG000038120
InParanoidiQ9NYP7
KOiK10244
OMAiCAVVWPC
OrthoDBi1094172at2759
PhylomeDBiQ9NYP7
TreeFamiTF323454

Enzyme and pathway databases

UniPathwayiUPA00658
BioCyciMetaCyc:ENSG00000012660-MONOMER
BRENDAi2.3.1.119 2681
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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ELOVL5 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ELOVL5

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

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GenomeRNAii
60481
PharosiQ9NYP7

Protein Ontology

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PROi
PR:Q9NYP7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000012660 Expressed in 235 organ(s), highest expression level in adipose tissue
ExpressionAtlasiQ9NYP7 baseline and differential
GenevisibleiQ9NYP7 HS

Family and domain databases

HAMAPiMF_03205 VLCF_elongase_5, 1 hit
InterProiView protein in InterPro
IPR002076 ELO_fam
IPR033677 ELOVL5
PANTHERiPTHR11157 PTHR11157, 1 hit
PTHR11157:SF18 PTHR11157:SF18, 1 hit
PfamiView protein in Pfam
PF01151 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 nameiELOV5_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: Q9NYP7
Secondary accession number(s): B4DZJ2
, F6SH78, Q59EL3, Q5TGH5, Q6NXE7, Q7L2S5, Q8NCG4, Q9UI22
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 1, 2000
Last modified: October 16, 2019
This is version 155 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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