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UniProtKB - O60427 (FADS1_HUMAN)

Entry version 163 (18 Sep 2019)
Sequence version 3 (11 Dec 2013)
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Protein

Acyl-CoA (8-3)-desaturase

Gene

FADS1

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

Isoform 1: Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).By similarity2 Publications
Isoform 2: Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.By similarity

<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.
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

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 functionOxidoreductase
Biological processElectron transport, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transport

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS07617-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1989781 PPARA activates gene expression
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism

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:000000368

<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:
Acyl-CoA (8-3)-desaturaseCurated (EC:1.14.19.442 Publications)
Alternative name(s):
Delta(5) fatty acid desaturase
Short name:
D5DBy similarity
Short name:
Delta(5) desaturaseBy similarity
Short name:
Delta-5 desaturase2 Publications
Fatty acid desaturase 11 Publication
<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:FADS11 PublicationImported
Synonyms:FADSD5
<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 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_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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3574 FADS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606148 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60427

<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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 121CytoplasmicSequence analysisAdd BLAST121
<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>Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Topological domaini143 – 145LumenalSequence analysis3
Transmembranei146 – 170HelicalSequence analysisAdd BLAST25
Topological domaini171 – 267CytoplasmicSequence analysisAdd BLAST97
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Topological domaini289 – 305LumenalSequence analysisAdd BLAST17
Transmembranei306 – 326HelicalSequence analysisAdd BLAST21
Topological domaini327 – 444CytoplasmicSequence analysisAdd BLAST118

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		3992

Open Targets

More...OpenTargetsi		ENSG00000149485

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27973

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5840

Drug and drug target database

More...DrugBanki		DB00132 Alpha-Linolenic Acid
DB11358 Evening primrose oil
DB00159 Icosapent
DB13168 Omega-6 fatty acids
DB09328 Vayarin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FADS1

<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_00003070961 – 444Acyl-CoA (8-3)-desaturaseAdd BLAST444

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 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O60427

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60427

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O60427

MaxQB - The MaxQuant DataBase

More...MaxQBi		O60427

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

More...PaxDbi		O60427

PeptideAtlas

More...PeptideAtlasi		O60427

PRoteomics IDEntifications database

More...PRIDEi		O60427

ProteomicsDB human proteome resource

More...ProteomicsDBi		1836
49399 [O60427-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60427

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

More...PhosphoSitePlusi		O60427

<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

Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain.3 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Strongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000149485 Expressed in 232 organ(s), highest expression level in mammalian vulva

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60427 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60427 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA042705

<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)

More...BioGridi		110180, 28 interactors

Protein interaction database and analysis system

More...IntActi		O60427, 18 interactors

Molecular INTeraction database

More...MINTi		O60427

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000322229

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O60427

<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		O60427

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini17 – 94Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd BLAST78

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>Motifi179 – 183Histidine box-15
Motifi216 – 220Histidine box-25
Motifi382 – 386Histidine box-35

<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 histidine box domains may contain the active site and/or be involved in metal ion binding.

<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 fatty acid desaturase type 1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4232 Eukaryota
ENOG410XVSZ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182990

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000012997

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60427

KEGG Orthology (KO)

More...KOi		K10224

Database of Orthologous Groups

More...OrthoDBi		1060606at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60427

TreeFam database of animal gene trees

More...TreeFami		TF313604

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.120.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001199 Cyt_B5-like_heme/steroid-bd
IPR036400 Cyt_B5-like_heme/steroid_sf
IPR005804 FA_desaturase_dom
IPR012171 Fatty_acid_desaturase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00173 Cyt-b5, 1 hit
PF00487 FA_desaturase, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF015921 FA_sphinglp_des, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00363 CYTOCHROMEB5

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01117 Cyt-b5, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF55856 SSF55856, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50255 CYTOCHROME_B5_2, 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 (2+)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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60427-1) [UniParc]FASTAAdd to basket
Also known as: FADS1CS

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
MAPDPVAAET AAQGPTPRYF TWDEVAQRSG CEERWLVIDR KVYNISEFTR 
        60         70         80         90        100
RHPGGSRVIS HYAGQDATDP FVAFHINKGL VKKYMNSLLI GELSPEQPSF 
       110        120        130        140        150
EPTKNKELTD EFRELRATVE RMGLMKANHV FFLLYLLHIL LLDGAAWLTL 
       160        170        180        190        200
WVFGTSFLPF LLCAVLLSAV QAQAGWLQHD FGHLSVFSTS KWNHLLHHFV 
       210        220        230        240        250
IGHLKGAPAS WWNHMHFQHH AKPNCFRKDP DINMHPFFFA LGKILSVELG 
       260        270        280        290        300
KQKKKYMPYN HQHKYFFLIG PPALLPLYFQ WYIFYFVIQR KKWVDLAWMI 
       310        320        330        340        350
TFYVRFFLTY VPLLGLKAFL GLFFIVRFLE SNWFVWVTQM NHIPMHIDHD 
       360        370        380        390        400
RNMDWVSTQL QATCNVHKSA FNDWFSGHLN FQIEHHLFPT MPRHNYHKVA 
       410        420        430        440 
PLVQSLCAKH GIEYQSKPLL SAFADIIHSL KESGQLWLDA YLHQ
Length:444
Mass (Da):51,964
Last modified:December 11, 2013 - v3
<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:iCC3C28D82AA49BF2
GO
Isoform 2 (identifier: O60427-2) [UniParc]FASTAAdd to basket
Also known as: FADS1AT1

The sequence of this isoform differs from the canonical sequence as follows:
     1-84: Missing.

Note: No experimental confirmation available.
Show »
Length:360
Mass (Da):42,474
Checksum:iCD55B8317E4BF21E
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 are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MR51A0A0A0MR51_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1 hCG_40849
501Annotation score:

Annotation score:2 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>
F5H3U5F5H3U5_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
192Annotation score:

Annotation score:1 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>
H7C2V0H7C2V0_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
228Annotation score:

Annotation score:1 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>
C9JJB3C9JJB3_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
139Annotation score:

Annotation score:1 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>
F5GWE3F5GWE3_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
165Annotation score:

Annotation score:1 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>
F5GYH4F5GYH4_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
153Annotation score:

Annotation score:1 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>
F5H3P6F5H3P6_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
146Annotation score:

Annotation score:1 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>
F5H852F5H852_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
164Annotation score:

Annotation score:1 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>
H0YB97H0YB97_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
175Annotation score:

Annotation score:1 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>
C9J425C9J425_HUMAN
Acyl-CoA (8-3)-desaturase
FADS1
47Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

<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 BAC11182 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC11229 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti6V → L in AAF29378 (PubMed:16554811).Curated1
Sequence conflicti9E → G in BAB55103 (PubMed:10601301).Curated1
Sequence conflicti15P → L in AAF29378 (PubMed:16554811).Curated1
Sequence conflicti100F → L in BAC11182 (PubMed:10601301).Curated1
Sequence conflicti143D → E in BAC11182 (PubMed:10601301).Curated1
Sequence conflicti180D → G in BAD96626 (PubMed:17974005).Curated1
Sequence conflicti212W → R in BAB55173 (PubMed:10601301).Curated1
Sequence conflicti213N → S in BAC11182 (PubMed:10601301).Curated1
Sequence conflicti255K → N in AAF29378 (PubMed:16554811).Curated1
Sequence conflicti319F → L in BAB55103 (PubMed:10601301).Curated1
Sequence conflicti361Q → L in AAF70457 (PubMed:15489334).Curated1
Sequence conflicti381F → S in BAC11229 (PubMed:10601301).Curated1
Sequence conflicti410H → R in AAF70457 (PubMed:15489334).Curated1
Sequence conflicti431K → E in BAC11229 (PubMed:10601301).Curated1

Natural variant

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_035340272P → S1 PublicationCorresponds to variant dbSNP:rs17856235Ensembl.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_0475211 – 84Missing in isoform 2. 1 PublicationAdd BLAST84

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
AK027427 mRNA Translation: BAB55103.1
AK027522 mRNA Translation: BAB55173.1
AK074754 mRNA Translation: BAC11182.1 Different initiation.
AK074819 mRNA Translation: BAC11229.1 Different initiation.
AK096275 mRNA Translation: BAG53244.1
AK289552 mRNA Translation: BAF82241.1
AK314199 mRNA Translation: BAG36877.1
AC004770 Genomic DNA Translation: AAC23397.1
AP002380 Genomic DNA No translation available.
AF084558 mRNA Translation: AAG23120.1
AL512760 mRNA Translation: CAC21679.1
AL834479 mRNA Translation: CAD39138.1
AK222906 mRNA Translation: BAD96626.1
BC007846 mRNA Translation: AAH07846.1
AF199596 mRNA Translation: AAF29378.1
AF226273 mRNA Translation: AAF70457.1

NCBI Reference Sequences

More...RefSeqi		NP_037534.3, NM_013402.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000433932; ENSP00000405087; ENSG00000149485 [O60427-2]
ENST00000542506; ENSP00000441403; ENSG00000149485 [O60427-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3992

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3992

UCSC genome browser

More...UCSCi		uc010rln.2 human [O60427-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027427 mRNA Translation: BAB55103.1
AK027522 mRNA Translation: BAB55173.1
AK074754 mRNA Translation: BAC11182.1 Different initiation.
AK074819 mRNA Translation: BAC11229.1 Different initiation.
AK096275 mRNA Translation: BAG53244.1
AK289552 mRNA Translation: BAF82241.1
AK314199 mRNA Translation: BAG36877.1
AC004770 Genomic DNA Translation: AAC23397.1
AP002380 Genomic DNA No translation available.
AF084558 mRNA Translation: AAG23120.1
AL512760 mRNA Translation: CAC21679.1
AL834479 mRNA Translation: CAD39138.1
AK222906 mRNA Translation: BAD96626.1
BC007846 mRNA Translation: AAH07846.1
AF199596 mRNA Translation: AAF29378.1
AF226273 mRNA Translation: AAF70457.1
RefSeqiNP_037534.3, NM_013402.4

3D structure databases

SMRiO60427
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110180, 28 interactors
IntActiO60427, 18 interactors
MINTiO60427
STRINGi9606.ENSP00000322229

Chemistry databases

BindingDBiO60427
ChEMBLiCHEMBL5840
DrugBankiDB00132 Alpha-Linolenic Acid
DB11358 Evening primrose oil
DB00159 Icosapent
DB13168 Omega-6 fatty acids
DB09328 Vayarin
SwissLipidsiSLP:000000368

PTM databases

iPTMnetiO60427
PhosphoSitePlusiO60427

Polymorphism and mutation databases

BioMutaiFADS1

Proteomic databases

EPDiO60427
jPOSTiO60427
MassIVEiO60427
MaxQBiO60427
PaxDbiO60427
PeptideAtlasiO60427
PRIDEiO60427
ProteomicsDBi1836
49399 [O60427-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		3992
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000433932; ENSP00000405087; ENSG00000149485 [O60427-2]
ENST00000542506; ENSP00000441403; ENSG00000149485 [O60427-2]
GeneIDi3992
KEGGihsa:3992
UCSCiuc010rln.2 human [O60427-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3992
DisGeNETi3992

GeneCards: human genes, protein and diseases

More...GeneCardsi		FADS1
HGNCiHGNC:3574 FADS1
HPAiHPA042705
MIMi606148 gene
neXtProtiNX_O60427
OpenTargetsiENSG00000149485
PharmGKBiPA27973

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4232 Eukaryota
ENOG410XVSZ LUCA
GeneTreeiENSGT00950000182990
HOGENOMiHOG000012997
InParanoidiO60427
KOiK10224
OrthoDBi1060606at2759
PhylomeDBiO60427
TreeFamiTF313604

Enzyme and pathway databases

UniPathwayiUPA00658
BioCyciMetaCyc:HS07617-MONOMER
ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-2046105 Linoleic acid (LA) metabolism
R-HSA-2046106 alpha-linolenic acid (ALA) metabolism

Miscellaneous databases

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

More...ChiTaRSi		FADS1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FADS1

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

More...GenomeRNAii		3992

Pharos

More...Pharosi		O60427

Protein Ontology

More...PROi		PR:O60427

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000149485 Expressed in 232 organ(s), highest expression level in mammalian vulva
ExpressionAtlasiO60427 baseline and differential
GenevisibleiO60427 HS

Family and domain databases

Gene3Di3.10.120.10, 1 hit
InterProiView protein in InterPro
IPR001199 Cyt_B5-like_heme/steroid-bd
IPR036400 Cyt_B5-like_heme/steroid_sf
IPR005804 FA_desaturase_dom
IPR012171 Fatty_acid_desaturase
PfamiView protein in Pfam
PF00173 Cyt-b5, 1 hit
PF00487 FA_desaturase, 1 hit
PIRSFiPIRSF015921 FA_sphinglp_des, 1 hit
PRINTSiPR00363 CYTOCHROMEB5
SMARTiView protein in SMART
SM01117 Cyt-b5, 1 hit
SUPFAMiSSF55856 SSF55856, 1 hit
PROSITEiView protein in PROSITE
PS50255 CYTOCHROME_B5_2, 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 nameiFADS1_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: O60427
Secondary accession number(s): A8K0I7
, B2RAI0, Q53GM5, Q8N3A6, Q8NCC7, Q8NCG0, Q96I39, Q96SV3, Q96T10, Q9NRP8, Q9NYX1
<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: October 2, 2007
Last sequence update: December 11, 2013
Last modified: September 18, 2019
This is version 163 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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