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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 transcript 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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Fatty 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)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei54 – 7421HelicalSequence analysisAdd
BLAST
Transmembranei78 – 9821HelicalSequence analysisAdd
BLAST
Transmembranei118 – 13821HelicalSequence analysisAdd
BLAST
Transmembranei166 – 18621HelicalSequence analysisAdd
BLAST
Transmembranei200 – 22021HelicalSequence analysisAdd
BLAST
Transmembranei269 – 28921HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134883572.

Polymorphism and mutation databases

DMDMi190359479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 356356Fatty acid desaturase 6PRO_0000341546Add
BLAST

Proteomic databases

PaxDbiQ8N9I5.
PRIDEiQ8N9I5.

PTM databases

iPTMnetiQ8N9I5.
PhosphoSiteiQ8N9I5.

Expressioni

Gene expression databases

BgeeiQ8N9I5.
CleanExiHS_FADS6.

Organism-specific databases

HPAiHPA016802.

Interactioni

Protein-protein interaction databases

BioGridi129719. 1 interaction.
IntActiQ8N9I5. 1 interaction.
STRINGi9606.ENSP00000307821.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1 – 661
Repeati7 – 1262
Repeati13 – 1863

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 18183 X 6 AA tandem repeat of M-E-P-T-E-PAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi102 – 1065Histidine box-1
Motifi139 – 1435Histidine box-2
Motifi292 – 2965Histidine box-3

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE62. Eukaryota.
ENOG4110K0A. LUCA.
HOGENOMiHOG000008225.
HOVERGENiHBG096401.
InParanoidiQ8N9I5.
KOiK12419.
OrthoDBiEOG747PJC.
PhylomeDBiQ8N9I5.
TreeFamiTF333083.

Family and domain databases

InterProiIPR005804. Fatty_acid_desaturase_dom.
[Graphical view]
PfamiPF00487. FA_desaturase. 1 hit.
[Graphical view]

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 BAC04349.1 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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti310 – 3101K → E in BAC04349 (PubMed:14702039).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1818Missing in isoform 2. 1 PublicationVSP_034320Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129719. 1 interaction.
IntActiQ8N9I5. 1 interaction.
STRINGi9606.ENSP00000307821.

PTM databases

iPTMnetiQ8N9I5.
PhosphoSiteiQ8N9I5.

Polymorphism and mutation databases

DMDMi190359479.

Proteomic databases

PaxDbiQ8N9I5.
PRIDEiQ8N9I5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi283985.
GeneCardsiFADS6.
H-InvDBHIX0202454.
HGNCiHGNC:30459. FADS6.
HPAiHPA016802.
neXtProtiNX_Q8N9I5.
PharmGKBiPA134883572.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE62. Eukaryota.
ENOG4110K0A. LUCA.
HOGENOMiHOG000008225.
HOVERGENiHBG096401.
InParanoidiQ8N9I5.
KOiK12419.
OrthoDBiEOG747PJC.
PhylomeDBiQ8N9I5.
TreeFamiTF333083.

Enzyme and pathway databases

UniPathwayiUPA00199.
SignaLinkiQ8N9I5.

Miscellaneous databases

GenomeRNAii283985.
PROiQ8N9I5.

Gene expression databases

BgeeiQ8N9I5.
CleanExiHS_FADS6.

Family and domain databases

InterProiIPR005804. Fatty_acid_desaturase_dom.
[Graphical view]
PfamiPF00487. FA_desaturase. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. "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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Cerebellum.
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).

Entry informationi

Entry nameiFADS6_HUMAN
AccessioniPrimary (citable) accession number: Q8N9I5
Secondary accession number(s): Q17RQ7, Q6XYE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: June 8, 2016
This is version 96 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.