Gene/Proteome Database (LMPD)

LMPD ID
LMP006626
Gene ID
3992
Species
Homo sapiens (Human)
Gene Name
fatty acid desaturase 1
Gene Symbol
FADS1
Synonyms
D5D; FADS6; FADSD5; LLCDL1; TU12
Alternate Names
fatty acid desaturase 1; delta-5 desaturase; delta(5) desaturase; delta-5 fatty acid desaturase; delta(5) fatty acid desaturase; linoleoyl-CoA desaturase (delta-6-desaturase)-like 1
Chromosome
11
Map Location
11q12.2-q13.1
EC Number
1.14.19.-
Summary
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
Orthologs
View orthologs and multiple alignments for FADS1

Proteins

fatty acid desaturase 1
Refseq ID NP_037534
Protein GI 214831730
UniProt ID O60427
mRNA ID NM_013402
Length 501
RefSeq Status REVIEWED
MGTRAARPAGLPCGAENPARRRLALGARQQIHSWSPRTPSTRLTAPAGPARGVARPAMAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVISHYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFALGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ

Gene Information

Entrez Gene ID
3992
Gene Name
fatty acid desaturase 1
Gene Symbol
FADS1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 NAS:UniProtKB C integral component of membrane
GO:0043231 NAS:UniProtKB C intracellular membrane-bounded organelle
GO:0016020 IDA:UniProtKB C membrane
GO:0005739 IEA:UniProtKB-KW C mitochondrion
GO:0000248 TAS:ProtInc F C-5 sterol desaturase activity
GO:0020037 IEA:InterPro F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0016491 IDA:UniProtKB F oxidoreductase activity
GO:0036109 TAS:Reactome P alpha-linolenic acid metabolic process
GO:0007267 NAS:UniProtKB P cell-cell signaling
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0009267 IDA:UniProtKB P cellular response to starvation
GO:0046456 TAS:UniProtKB P icosanoid biosynthetic process
GO:0043651 TAS:Reactome P linoleic acid metabolic process
GO:0008654 TAS:UniProtKB P phospholipid biosynthetic process
GO:0045595 NAS:UniProtKB P regulation of cell differentiation
GO:0006355 NAS:UniProtKB P regulation of transcription, DNA-templated
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006636 IDA:UniProtKB P unsaturated fatty acid biosynthetic process
GO:0033559 TAS:Reactome P unsaturated fatty acid metabolic process

BIOCYC Pathway Links

BIOCYC Pathway ID Description
PWY-5996 oleate biosynthesis II (animals)

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_121100 Linoleic acid (LA) metabolism
REACT_116145 PPARA activates gene expression
REACT_121147 alpha-linolenic acid (ALA) metabolism

Domain Information

InterPro Annotations

Accession Description
IPR001199 Cytochrome b5-like heme/steroid binding domain
IPR005804 Fatty acid desaturase, type 1
IPR012171 Fatty acid/sphingolipid desaturase

UniProt Annotations

Entry Information

Gene Name
fatty acid desaturase 1
Protein Entry
FADS1_HUMAN
UniProt ID
O60427
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=FADS1CS; IsoId=O60427-1; Sequence=Displayed; Name=2; Synonyms=FADS1AT1; IsoId=O60427-2; Sequence=VSP_047521; Note=No experimental confirmation available.;
Domain The histidine box domains may contain the active site and/or be involved in metal ion binding.
Function Isoform 2 does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity (By similarity). Isoform 1 is a 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. {ECO
Induction Strongly down-regulated upon differentiation in a neuroblastoma cell line (at protein level).
Interaction Q9UBM7:DHCR7; NbExp=1; IntAct=EBI-1055473, EBI-1054468; Q9BRP4:PAAF1; NbExp=1; IntAct=EBI-1055473, EBI-1056358;
Pathway Lipid metabolism; polyunsaturated fatty acid biosynthesis.
Sequence Caution Sequence=BAC11182.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ; Sequence=BAC11229.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
Similarity Belongs to the fatty acid desaturase family.
Similarity Contains 1 cytochrome b5 heme-binding domain.
Subcellular Location Isoform 1: Endoplasmic reticulum membrane {ECO
Subcellular Location Isoform 2: Endoplasmic reticulum membrane {ECO
Tissue Specificity Widely expressed, with highest levels in liver, brain, adrenal gland and heart. Highly expressed in fetal liver and brain. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP006626 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
214831730 RefSeq NP_037534 501 fatty acid desaturase 1

Identical Sequences to LMP006626 proteins

Reference Database Accession Length Protein Name
GI:214831730 GenBank EAW73973.1 501 fatty acid desaturase 1 [Homo sapiens]

Related Sequences to LMP006626 proteins

Reference Database Accession Length Protein Name
GI:214831730 EMBL CAF85988.1 501 unnamed protein product [Homo sapiens]
GI:214831730 GenBank JAA30224.1 501 fatty acid desaturase 1 [Pan troglodytes]
GI:214831730 GenBank JAA35357.1 501 fatty acid desaturase 1 [Pan troglodytes]
GI:214831730 GenBank JAA35358.1 501 fatty acid desaturase 1 [Pan troglodytes]
GI:214831730 RefSeq XP_003828511.2 501 PREDICTED: fatty acid desaturase 1 [Pan paniscus]
GI:214831730 RefSeq XP_001150290.3 501 PREDICTED: fatty acid desaturase 1 isoform X1 [Pan troglodytes]