Fatty acid desaturase 1 - Homo sapiens (Human)

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

Name:	FADS1
Synonyms:	FADSD5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	444 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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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	Lipid metabolism; polyunsaturated fatty acid biosynthesis.
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.

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Ontologies

Keywords
Biological process	Electron transport Fatty acid biosynthesis Lipid synthesis Transport
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane
Molecular function	Oxidoreductase
Gene Ontology (GO)
Biological process	cell-cell signaling Ref.1 Non-traceable author statement. Source: UniProtKB cellular response to starvation Ref.1 Inferred from direct assay. Source: UniProtKB electron transport chain Inferred from electronic annotation. Source: UniProtKB-KW icosanoid biosynthetic process Ref.1 Traceable author statement. Source: UniProtKB phospholipid biosynthetic process Ref.1 Traceable author statement. Source: UniProtKB regulation of cell differentiation Ref.1 Non-traceable author statement. Source: UniProtKB regulation of transcription Ref.1 Non-traceable author statement. Source: UniProtKB transport Inferred from electronic annotation. Source: UniProtKB-KW unsaturated fatty acid biosynthetic process Ref.1 Inferred from direct assay. Source: UniProtKB
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Ref.1 Non-traceable author statement. Source: UniProtKB microsome Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	C-5 sterol desaturase activity Ref.1 Traceable author statement. Source: ProtInc heme binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
	Q65ZQ1	1	EBI-1055473,EBI-1054063
DHCR7	Q9UBM7	1	EBI-1055473,EBI-1054468
PAAF1	Q9BRP4	1	EBI-1055473,EBI-1056358

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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

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Sequences

Sequence

Length

Mass (Da)

Tools

O60427-1 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: CC3C28D82AA49BF2
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FASTA

444

51,964

        10         20         30         40         50         60 
MAPDPVAAET AAQGPTPRYF TWDEVAQRSG CEERWLVIDR KVYNISEFTR RHPGGSRVIS 

        70         80         90        100        110        120 
HYAGQDATDP FVAFHINKGL VKKYMNSLLI GELSPEQPSF EPTKNKELTD EFRELRATVE 

       130        140        150        160        170        180 
RMGLMKANHV FFLLYLLHIL LLDGAAWLTL WVFGTSFLPF LLCAVLLSAV QAQAGWLQHD 

       190        200        210        220        230        240 
FGHLSVFSTS KWNHLLHHFV IGHLKGAPAS WWNHMHFQHH AKPNCFRKDP DINMHPFFFA 

       250        260        270        280        290        300 
LGKILSVELG KQKKKYMPYN HQHKYFFLIG PPALLPLYFQ WYIFYFVIQR KKWVDLAWMI 

       310        320        330        340        350        360 
TFYVRFFLTY VPLLGLKAFL GLFFIVRFLE SNWFVWVTQM NHIPMHIDHD RNMDWVSTQL 

       370        380        390        400        410        420 
QATCNVHKSA FNDWFSGHLN FQIEHHLFPT MPRHNYHKVA PLVQSLCAKH GIEYQSKPLL 

       430        440 
SAFADIIHSL KESGQLWLDA YLHQ

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References

	« Hide 'large scale' referencesShow '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.

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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...

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Entry information

Entry name

FADS1_HUMAN

Accession

Primary (citable) accession number: O60427
Secondary accession number(s): Q53GM5

Q9NYX1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	August 1, 1998
Last modified:	November 25, 2008
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents