Gene/Proteome Database (LMPD)

LMPD ID
LMP006633
Gene ID
9415
Species
Homo sapiens (Human)
Gene Name
fatty acid desaturase 2
Gene Symbol
FADS2
Synonyms
D6D; DES6; FADSD6; LLCDL2; SLL0262; TU13
Alternate Names
fatty acid desaturase 2; delta-6 desaturase; delta-6-desaturase; delta(6) desaturase; delta-6 fatty acid desaturase; delta(6) fatty acid desaturase; linoleoyl-CoA desaturase (delta-6-desaturase)-like 2
Chromosome
11
Map Location
11q12.2
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 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Orthologs
View orthologs and multiple alignments for FADS2

Proteins

fatty acid desaturase 2 isoform 1
Refseq ID NP_004256
Protein GI 4758334
UniProt ID O95864
mRNA ID NM_004265
Length 444
RefSeq Status REVIEWED
MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK
sig_peptide: 1..4 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 500 peptide sequence: MHGR
fatty acid desaturase 2 isoform 2 precursor
Refseq ID NP_001268430
Protein GI 527498295
UniProt ID O95864
mRNA ID NM_001281501
Length 422
RefSeq Status REVIEWED
MHGREAGPFVCVCVLLASIPTPQTPLLQASLPPFHPASAGHPITGQQDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK
fatty acid desaturase 2 isoform 3
Refseq ID NP_001268431
Protein GI 527498297
UniProt ID O95864
mRNA ID NM_001281502
Length 413
RefSeq Status REVIEWED
MTREPPGCRRVNSLMLYTLRSITSHRSSHPERWATSSQDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQDHGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIPTLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHFQHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIPMYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWFVWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMPRHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK

Gene Information

Entrez Gene ID
9415
Gene Name
fatty acid desaturase 2
Gene Symbol
FADS2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0005887 TAS:ProtInc C integral component of plasma membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0020037 IEA:InterPro F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0004768 IEA:Ensembl F stearoyl-CoA 9-desaturase activity
GO:0036109 TAS:Reactome P alpha-linolenic acid metabolic process
GO:0043651 TAS:Reactome P linoleic acid metabolic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006636 TAS:ProtInc P unsaturated fatty acid biosynthetic process
GO:0033559 TAS:Reactome P unsaturated fatty acid metabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa03320 PPAR signaling pathway

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_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 2
Protein Entry
FADS2_HUMAN
UniProt ID
O95864
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O95864-1; Sequence=Displayed; Name=2; IsoId=O95864-2; Sequence=VSP_028568; Name=3; IsoId=O95864-3; Sequence=VSP_028569; Note=No experimental confirmation available.; Name=4; IsoId=O95864-4; Sequence=VSP_054809;
Developmental Stage Found in fetal heart.
Domain The histidine box domains may contain the active site and/or be involved in metal ion binding.
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 first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma- linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum.
Induction Repressed by dietary highly unsaturated fatty acids.
Pathway Lipid metabolism; polyunsaturated fatty acid biosynthesis.
Similarity Belongs to the fatty acid desaturase family.
Similarity Contains 1 cytochrome b5 heme-binding domain.
Subcellular Location Endoplasmic reticulum membrane {ECO
Tissue Specificity Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP006633 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4758334 RefSeq NP_004256 444 fatty acid desaturase 2 isoform 1
527498295 RefSeq NP_001268430 422 fatty acid desaturase 2 isoform 2 precursor
527498297 RefSeq NP_001268431 413 fatty acid desaturase 2 isoform 3

Identical Sequences to LMP006633 proteins

Reference Database Accession Length Protein Name
GI:527498295 DBBJ BAF82980.1 422 unnamed protein product [Homo sapiens]
GI:527498297 DBBJ BAH13120.1 413 unnamed protein product [Homo sapiens]
GI:527498295 GenBank AAG43192.1 422 p5327 [Homo sapiens]
GI:527498295 GenBank EAW73975.1 422 fatty acid desaturase 2, isoform CRA_b [Homo sapiens]
GI:4758334 GenBank AFK97132.1 444 Sequence 21 from patent US 8158392
GI:4758334 GenBank AFL61025.1 444 Sequence 21 from patent US 8106226
GI:4758334 GenBank JAA43211.1 444 fatty acid desaturase 2 [Pan troglodytes]
GI:4758334 GenBank AGB67180.1 444 Sequence 21 from patent US 8288572
GI:4758334 GenBank AHE22358.1 444 Sequence 21 from patent US 8575377
GI:4758334 RefSeq XP_003828509.1 444 PREDICTED: fatty acid desaturase 2 isoform X2 [Pan paniscus]

Related Sequences to LMP006633 proteins

Reference Database Accession Length Protein Name
GI:527498295 DBBJ BAH13120.1 413 unnamed protein product [Homo sapiens]
GI:527498295 EMBL CAF86135.1 444 unnamed protein product [Homo sapiens]
GI:4758334 EMBL CAH89900.1 444 hypothetical protein [Pongo abelii]
GI:527498297 GenBank AAG43192.1 422 p5327 [Homo sapiens]
GI:527498297 GenBank EAW73975.1 422 fatty acid desaturase 2, isoform CRA_b [Homo sapiens]
GI:4758334 GenBank JAA20425.1 444 fatty acid desaturase 2 [Pan troglodytes]
GI:4758334 GenBank JAA29141.1 444 fatty acid desaturase 2 [Pan troglodytes]
GI:4758334 RefSeq XP_508482.2 444 PREDICTED: fatty acid desaturase 2 isoform X2 [Pan troglodytes]
GI:4758334 RefSeq NP_001128974.1 444 fatty acid desaturase 2 [Pongo abelii]
GI:527498297 RefSeq XP_003274098.1 413 PREDICTED: fatty acid desaturase 2 [Nomascus leucogenys]
GI:527498295 RefSeq XP_003274098.1 413 PREDICTED: fatty acid desaturase 2 [Nomascus leucogenys]
GI:527498297 RefSeq XP_003798787.1 413 PREDICTED: fatty acid desaturase 2 isoform 4 [Otolemur garnettii]
GI:527498297 RefSeq XP_004019641.1 414 PREDICTED: fatty acid desaturase 2 isoform 2 [Ovis aries]
GI:527498297 RefSeq NP_001268430.1 422 fatty acid desaturase 2 isoform 2 precursor [Homo sapiens]
GI:527498295 RefSeq NP_001268431.1 413 fatty acid desaturase 2 isoform 3 [Homo sapiens]
GI:527498295 RefSeq XP_005577675.1 499 PREDICTED: fatty acid desaturase 2 isoform X1 [Macaca fascicularis]
GI:527498295 RefSeq XP_008952128.1 469 PREDICTED: fatty acid desaturase 2 isoform X1 [Pan paniscus]
GI:4758334 SwissProt Q5REA7.1 444 RecName: Full=Fatty acid desaturase 2; AltName: Full=Delta(6) fatty acid desaturase; Short=D6D; Short=Delta(6) desaturase; Short=Delta-6 desaturase [Pongo abelii]