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UniProtKB - Q9BW60 (ELOV1_HUMAN)

Entry version 169 (10 Feb 2021)
Sequence version 1 (01 Jun 2001)
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Protein

Elongation of very long chain fatty acids protein 1

Gene

ELOVL1

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 (PubMed:29496980, PubMed:30487246). This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis (PubMed:20937905). Indirectly inhibits RPE65 via production of VLCFAs.UniRule annotation4 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 annotation3 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BW60

Reactome - a knowledgebase of biological pathways and processes

More...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		UPA00094

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000249

<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 1UniRule annotationCurated (EC:2.3.1.199UniRule annotation3 Publications)
Alternative name(s):
3-keto acyl-CoA synthase ELOVL1UniRule annotation
ELOVL fatty acid elongase 1UniRule annotation
Short name:
ELOVL FA elongase 1UniRule annotation
Very long chain 3-ketoacyl-CoA synthase 1UniRule annotation
Very long chain 3-oxoacyl-CoA synthase 1UniRule annotation
<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:ELOVL1Imported
Synonyms:SSC1
ORF Names:CGI-88
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14418, ELOVL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611813, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BW60

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000066322.12

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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features.
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_083193165S → F in IKSHD; loss of fatty acid elongase activity. 2 Publications1

Keywords - Diseasei

Disease variant, Ichthyosis

Organism-specific databases

DisGeNET

More...DisGeNETi		64834

MalaCards human disease database

More...MalaCardsi		ELOVL1
MIMi618527, phenotype

Open Targets

More...OpenTargetsi		ENSG00000066322

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27760

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BW60, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL6001

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ELOVL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		20137931

<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_00002075361 – 279Elongation of very long chain fatty acids protein 1Add BLAST279

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

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BW60

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BW60

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BW60

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BW60

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

More...PaxDbi		Q9BW60

PeptideAtlas

More...PeptideAtlasi		Q9BW60

PRoteomics IDEntifications database

More...PRIDEi		Q9BW60

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4745
79254 [Q9BW60-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9BW60-1 [Q9BW60-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BW60

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9BW60

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

More...PhosphoSitePlusi		Q9BW60

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9BW60

<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.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000066322, Expressed in C1 segment of cervical spinal cord and 232 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BW60, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000066322, Tissue enhanced (brain)

<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

Interacts with LASS2, TECR and HSD17B12.

UniRule annotation1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122312, 25 interactors

Protein interaction database and analysis system

More...IntActi		Q9BW60, 7 interactors

Molecular INTeraction database

More...MINTi		Q9BW60

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000477602

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9BW60

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BW60, 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

More...SMRi		Q9BW60

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>Motifi275 – 279Di-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 may confer 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. ELOVL1 subfamily.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3071, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01000000214384

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_048483_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BW60

Identification of Orthologs from Complete Genome Data

More...OMAi		YYLSCAL

Database of Orthologous Groups

More...OrthoDBi		1094172at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BW60

TreeFam database of animal gene trees

More...TreeFami		TF323454

Family and domain databases

HAMAP database of protein families

More...HAMAPi		MF_03201, VLCF_elongase_1, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030457, ELO_CS
IPR002076, ELO_fam
IPR033681, ELOVL1

The PANTHER Classification System

More...PANTHERi		PTHR11157, PTHR11157, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01151, ELO, 1 hit

PROSITE; a protein domain and family database

More...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>Sequences (2)i

<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.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9BW60-1) [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
MEAVVNLYQE VMKHADPRIQ GYPLMGSPLL MTSILLTYVY FVLSLGPRIM 
        60         70         80         90        100
ANRKPFQLRG FMIVYNFSLV ALSLYIVYEF LMSGWLSTYT WRCDPVDYSN 
       110        120        130        140        150
SPEALRMVRV AWLFLFSKFI ELMDTVIFIL RKKDGQVTFL HVFHHSVLPW 
       160        170        180        190        200
SWWWGVKIAP GGMGSFHAMI NSSVHVIMYL YYGLSAFGPV AQPYLWWKKH 
       210        220        230        240        250
MTAIQLIQFV LVSLHISQYY FMSSCNYQYP VIIHLIWMYG TIFFMLFSNF 
       260        270 
WYHSYTKGKR LPRALQQNGA PGIAKVKAN
Length:279
Mass (Da):32,663
Last modified:June 1, 2001 - v1
<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:iB168EE4C7EAF92A6
GO
Isoform 2 (identifier: Q9BW60-2) [UniParc]FASTAAdd to basket

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

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

<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 AAD34083 differs from that shown. Reason: Frameshift.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 conflicti68S → P in BAA91813 (PubMed:14702039).Curated1
Sequence conflicti75Y → H in AAL71993 (Ref. 1) Curated1
Sequence conflicti201M → T in BAD96218 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083193165S → F in IKSHD; loss of fatty acid elongase activity. 2 Publications1

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_04543680 – 106Missing in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF336793 mRNA Translation: AAL71993.1
AF151846 mRNA Translation: AAD34083.1 Frameshift.
AK001653 mRNA Translation: BAA91813.1
AK222498 mRNA Translation: BAD96218.1
AK298163 mRNA Translation: BAG60436.1
AL139289 Genomic DNA No translation available.
BC000618 mRNA Translation: AAH00618.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS485.1 [Q9BW60-1]
CCDS57987.1 [Q9BW60-2]

NCBI Reference Sequences

More...RefSeqi		NP_001243328.1, NM_001256399.1 [Q9BW60-1]
NP_001243330.1, NM_001256401.1 [Q9BW60-2]
NP_001243331.1, NM_001256402.1
NP_073732.1, NM_022821.3 [Q9BW60-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000372458; ENSP00000361536; ENSG00000066322 [Q9BW60-1]
ENST00000413844; ENSP00000416024; ENSG00000066322 [Q9BW60-2]
ENST00000621943; ENSP00000477602; ENSG00000066322 [Q9BW60-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		64834

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:64834

UCSC genome browser

More...UCSCi		uc001cjb.5, human [Q9BW60-1]

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
AF336793 mRNA Translation: AAL71993.1
AF151846 mRNA Translation: AAD34083.1 Frameshift.
AK001653 mRNA Translation: BAA91813.1
AK222498 mRNA Translation: BAD96218.1
AK298163 mRNA Translation: BAG60436.1
AL139289 Genomic DNA No translation available.
BC000618 mRNA Translation: AAH00618.1
CCDSiCCDS485.1 [Q9BW60-1]
CCDS57987.1 [Q9BW60-2]
RefSeqiNP_001243328.1, NM_001256399.1 [Q9BW60-1]
NP_001243330.1, NM_001256401.1 [Q9BW60-2]
NP_001243331.1, NM_001256402.1
NP_073732.1, NM_022821.3 [Q9BW60-1]

3D structure databases

SMRiQ9BW60
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122312, 25 interactors
IntActiQ9BW60, 7 interactors
MINTiQ9BW60
STRINGi9606.ENSP00000477602

Chemistry databases

BindingDBiQ9BW60
ChEMBLiCHEMBL6001
SwissLipidsiSLP:000000249

PTM databases

iPTMnetiQ9BW60
MetOSiteiQ9BW60
PhosphoSitePlusiQ9BW60
SwissPalmiQ9BW60

Genetic variation databases

BioMutaiELOVL1
DMDMi20137931

Proteomic databases

EPDiQ9BW60
jPOSTiQ9BW60
MassIVEiQ9BW60
MaxQBiQ9BW60
PaxDbiQ9BW60
PeptideAtlasiQ9BW60
PRIDEiQ9BW60
ProteomicsDBi4745
79254 [Q9BW60-1]
TopDownProteomicsiQ9BW60-1 [Q9BW60-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32316, 202 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		64834
DisGeNETi64834

GeneCards: human genes, protein and diseases

More...GeneCardsi		ELOVL1
HGNCiHGNC:14418, ELOVL1
HPAiENSG00000066322, Tissue enhanced (brain)
MalaCardsiELOVL1
MIMi611813, gene
618527, phenotype
neXtProtiNX_Q9BW60
OpenTargetsiENSG00000066322
PharmGKBiPA27760
VEuPathDBiHostDB:ENSG00000066322.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3071, Eukaryota
GeneTreeiENSGT01000000214384
HOGENOMiCLU_048483_0_0_1
InParanoidiQ9BW60
OMAiYYLSCAL
OrthoDBi1094172at2759
PhylomeDBiQ9BW60
TreeFamiTF323454

Enzyme and pathway databases

UniPathwayiUPA00094
PathwayCommonsiQ9BW60
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

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		64834, 89 hits in 873 CRISPR screens

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

More...ChiTaRSi		ELOVL1, human

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

More...GenomeRNAii		64834
PharosiQ9BW60, Tbio

Protein Ontology

More...PROi		PR:Q9BW60
RNActiQ9BW60, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000066322, Expressed in C1 segment of cervical spinal cord and 232 other tissues
GenevisibleiQ9BW60, HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiELOV1_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: Q9BW60
Secondary accession number(s): B4DP24
, Q53HT2, Q5JUY3, Q8WXU3, Q9NVD9, Q9Y396
<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: June 1, 2001
Last modified: February 10, 2021
This is version 169 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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