Reviewed,
UniProtKB/Swiss-Prot O60427 (FADS1_HUMAN)
Last modified
November 25, 2008.
Version 57.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Fatty acid desaturase 1 EC=1.14.19.- Alternative name(s): Delta(5) fatty acid desaturase Short name=Delta(5) desaturase Short name=D5D | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 444 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the desaturation of dihomo-gamma-linoleic acid (DHGLA) (20:3n-6) and eicosatetraenoic acid (20:4n-3) to generate arachidonic acid (AA) (20:4n-6) and eicosapentaenoic acid (EPA)(20:5n-3) respectively. |
| Pathway | |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane proteinPotential. |
| Tissue specificity | Expressed in many tissues, it is most abundant in the liver, brain, adrenal gland and heart. Found as well in skeletal muscle, lung, placenta, kidney, pancreas and retina. |
| Developmental stage | Highly expressed in fetal liver and fetal brain. |
| Domain | The histidine box domains may contain the active site and/or be involved in metal ion binding. |
| Sequence similarities | Belongs to the fatty acid desaturase family. Contains 1 cytochrome b5 heme-binding domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Q65ZQ1 | 1 | EBI-1055473,EBI-1054063 | ||
| DHCR7 | Q9UBM7 | 1 | EBI-1055473,EBI-1054468 | |
| PAAF1 | Q9BRP4 | 1 | EBI-1055473,EBI-1056358 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 444 | 444 | Fatty acid desaturase 1 | PRO_0000307096 | |||||
Regions | |||||||||
| Topological domain | 1 – 121 | 121 | Cytoplasmic Potential | ||||||
| Transmembrane | 122 – 142 | 21 | Potential | ||||||
| Topological domain | 143 – 145 | 3 | Lumenal Potential | ||||||
| Transmembrane | 146 – 170 | 25 | Potential | ||||||
| Topological domain | 171 – 267 | 97 | Cytoplasmic Potential | ||||||
| Transmembrane | 268 – 288 | 21 | Potential | ||||||
| Topological domain | 289 – 305 | 17 | Lumenal Potential | ||||||
| Transmembrane | 306 – 326 | 21 | Potential | ||||||
| Topological domain | 327 – 444 | 118 | Cytoplasmic Potential | ||||||
| Domain | 17 – 94 | 78 | Cytochrome b5 heme-binding | ||||||
| Motif | 179 – 183 | 5 | Histidine box-1 | ||||||
| Motif | 216 – 220 | 5 | Histidine box-2 | ||||||
| Motif | 382 – 386 | 5 | Histidine box-3 | ||||||
Natural variations | |||||||||
| Natural variant | 272 | 1 | P → S: dbSNP rs17856235. | VAR_035340 | |||||
Experimental info | |||||||||
| Sequence conflict | 6 | 1 | V → L in AAF29378. Ref.1 | ||||||
| Sequence conflict | 9 | 1 | E → G in BAB55103. Ref.5 | ||||||
| Sequence conflict | 15 | 1 | P → L in AAF29378. Ref.1 | ||||||
| Sequence conflict | 100 | 1 | F → L in BAC11182. Ref.5 | ||||||
| Sequence conflict | 143 | 1 | D → E in BAC11182. Ref.5 | ||||||
| Sequence conflict | 180 | 1 | D → G in BAD96626. Ref.6 | ||||||
| Sequence conflict | 212 | 1 | W → R in BAB55173. Ref.5 | ||||||
| Sequence conflict | 213 | 1 | N → S in BAC11182. Ref.5 | ||||||
| Sequence conflict | 255 | 1 | K → N in AAF29378. Ref.1 | ||||||
| Sequence conflict | 319 | 1 | F → L in BAB55103. Ref.5 | ||||||
| Sequence conflict | 361 | 1 | Q → L in AAF70457. Ref.2 | ||||||
| Sequence conflict | 381 | 1 | F → S in BAC11229. Ref.5 | ||||||
| Sequence conflict | 410 | 1 | H → R in AAF70457. Ref.2 | ||||||
| Sequence conflict | 431 | 1 | K → E in BAC11229. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning, expression, and fatty acid regulation of the human Delta-5 desaturase." Cho H.P., Nakamura M., Clarke S.D. J. Biol. Chem. 274:37335-37339(1999) [PubMed: 10601301] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. |
| [2] | "cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid." Leonard A.E., Kelder B., Bobik E.G., Chuang L.-T., Parker-Barnes J.M., Thurmond J.M., Kroeger P.E., Kopchick J.J., Huang Y.-S., Mukerji P. Biochem. J. 347:719-724(2000) [PubMed: 10769175] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DEVELOPMENTAL STAGE, TISSUE SPECIFICITY. Tissue: Liver. |
| [3] | "cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family." Marquardt A., Stoehr H., White K., Weber B.H. Genomics 66:175-183(2000) [PubMed: 10860662] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Retina. |
| [4] | The German cDNA consortium Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Melanoma. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [6] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney. |
| [7] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-272. Tissue: Brain. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF199596 mRNA. Translation: AAF29378.1. AF226273 mRNA. Translation: AAF70457.1. AF084558 mRNA. Translation: AAG23120.1. AL512760 mRNA. Translation: CAC21679.1. AL834479 mRNA. Translation: CAD39138.1. AK027427 mRNA. Translation: BAB55103.1. AK027522 mRNA. Translation: BAB55173.1. AK074754 mRNA. Translation: BAC11182.1. Different initiation. AK074819 mRNA. Translation: BAC11229.1. Different initiation. AK222906 mRNA. Translation: BAD96626.1. AC004770 Genomic DNA. Translation: AAC23397.1. BC007846 mRNA. Translation: AAH07846.1. | |
| RefSeq | NP_037534.2. |
| UniGene | Hs.503546 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1B5M based on UniProtKB P04166. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O60427. |
PTM databases | |
| PhosphoSite | O60427. |
Genome annotation databases | |
| Ensembl | ENSG00000149485. Homo sapiens. [Contig view] |
| GeneID | 3992. |
| KEGG | hsa:3992. |
Organism-specific databases | |
| HGNC | HGNC:3574. FADS1. |
| MIM | 606148. gene. |
| PharmGKB | PA27973. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | O60427. |
Gene expression databases | |
| ArrayExpress | O60427. |
Family and domain databases | |
| InterPro | IPR001199. Cyt_B5. IPR012171. Fatty_acid/sphinglp_desaturase. IPR005804. Fatty_acid_desaturase-1. [Graphical view] |
| Gene3D | G3DSA:3.10.120.10. Cyt_B5. 1 hit. |
| Pfam | PF00173. Cyt-b5. 1 hit. PF00487. FA_desaturase. 1 hit. [Graphical view] |
| PIRSF | PIRSF015921. FA_sphinglp_des. 1 hit. |
| PRINTS | PR00363. CYTOCHROMEB5. |
| ProDom | PD000612. Cyt_B5. 1 hit. PD001081. FA_desat_sub. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| PROSITE | PS00191. CYTOCHROME_B5_1. False negative. PS50255. CYTOCHROME_B5_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00132. Alpha-Linolenic Acid. DB00159. Icosapent. |
| NextBio | 15660. |
| SOURCE | Search... |
Entry information
| Entry name | FADS1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60427 Secondary accession number(s): Q53GM5 Q9NYX1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


