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Protein

Fatty acid desaturase 6

Gene

FADS6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Pathwayi: fatty acid metabolism

This protein is involved in the pathway fatty acid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid metabolism and in Lipid metabolism.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

SignaLinkiQ8N9I5.
UniPathwayiUPA00199.

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acid desaturase 6 (EC:1.14.19.-)
Gene namesi
Name:FADS6
ORF Names:FP18279
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:30459. FADS6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Transmembranei78 – 98HelicalSequence analysisAdd BLAST21
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Transmembranei166 – 186HelicalSequence analysisAdd BLAST21
Transmembranei200 – 220HelicalSequence analysisAdd BLAST21
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134883572.

Polymorphism and mutation databases

DMDMi190359479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003415461 – 356Fatty acid desaturase 6Add BLAST356

Proteomic databases

PaxDbiQ8N9I5.
PeptideAtlasiQ8N9I5.
PRIDEiQ8N9I5.

PTM databases

iPTMnetiQ8N9I5.
PhosphoSitePlusiQ8N9I5.

Expressioni

Gene expression databases

CleanExiHS_FADS6.

Organism-specific databases

HPAiHPA016802.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi129719. 1 interactor.
IntActiQ8N9I5. 18 interactors.
STRINGi9606.ENSP00000307821.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 616
Repeati7 – 1226
Repeati13 – 1836

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 183 X 6 AA tandem repeat of M-E-P-T-E-PAdd BLAST18

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi102 – 106Histidine box-15
Motifi139 – 143Histidine box-25
Motifi292 – 296Histidine box-35

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE62. Eukaryota.
ENOG4110K0A. LUCA.
HOGENOMiHOG000008225.
HOVERGENiHBG096401.
InParanoidiQ8N9I5.
KOiK12419.
PhylomeDBiQ8N9I5.
TreeFamiTF333083.

Family and domain databases

InterProiView protein in InterPro
IPR005804. FA_desaturase_dom.
PfamiView protein in Pfam
PF00487. FA_desaturase. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N9I5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MEPTEPMEPT EPMEPTEPME PARSAHRGGE ALLRELEVLV QDVVRTSSWW
60 70 80 90 100
ERHGVDCAIL ALSLFALPAG FLCLRWENAL VFASGITILG VCHYTLTVKG
110 120 130 140 150
SHLATHGALT ESKRWSKIWL LFFVEVCTAF TAEHATHGHV KMHHAYTNVV
160 170 180 190 200
GLGDSSTWRL PCLNRYVYMF LAPFLLPIAT PLVAVERLRK VELGTALRTL
210 220 230 240 250
ALISLGLYSH YWLLLNVSGF KNPSSALGCM FLTRSLLAHP YLHVNIFQHI
260 270 280 290 300
GLPMFSRDNK PRRIHMMSLG VLNLARLPVL DWAFGHSIIS CHVEHHLFPR
310 320 330 340 350
LSDNMCLKVK PVVSQFLREK QLPYNEDSYL ARFQLFLRRY EEFMVQAPPI

TELVGL
Length:356
Mass (Da):40,447
Last modified:June 10, 2008 - v2
Checksum:iC405D980D1C93439
GO
Isoform 2 (identifier: Q8N9I5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: Missing.

Note: No experimental confirmation available.
Show »
Length:338
Mass (Da):38,393
Checksum:i9837E9DE48511B85
GO

Sequence cautioni

The sequence BAC04349 differs from that shown. The N-terminus contains a duplication of the repeated 'MEPTEP' sequence. It is unclear whether such duplication is due to a sequencing error or a polymorphism.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti310K → E in BAC04349 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0343201 – 18Missing in isoform 2. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY203929 mRNA. Translation: AAP34452.1.
AK094411 mRNA. Translation: BAC04349.1. Sequence problems.
BC117230 mRNA. Translation: AAI17231.2.
RefSeqiNP_835229.3. NM_178128.5.
UniGeneiHs.448845.

Genome annotation databases

EnsembliENST00000310226; ENSP00000307821; ENSG00000172782.
GeneIDi283985.
KEGGihsa:283985.

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiFADS6_HUMAN
AccessioniPrimary (citable) accession number: Q8N9I5
Secondary accession number(s): Q17RQ7, Q6XYE1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: August 30, 2017
This is version 104 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families