Q8N9I5 (FADS6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fatty acid desaturase 6
EC=1.14.19.-

Gene names

Name:	FADS6
ORF Names:	FP18279

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	356 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Pathway	Lipid metabolism; fatty acid metabolism.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the fatty acid desaturase family.
Sequence caution	The sequence BAC04349.1 differs from that shown. Reason: 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.

Ontologies

Keywords
Biological process	Fatty acid biosynthesis Lipid synthesis
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat Transmembrane Transmembrane helix
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	fatty acid biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	oxidoreductase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N9I5-1)

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.

Isoform 2 (identifier: Q8N9I5-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 356	356	Fatty acid desaturase 6		PRO_0000341546
Regions
	Transmembrane	54 – 74	21	Helical; Potential
	Transmembrane	78 – 98	21	Helical; Potential
	Transmembrane	118 – 138	21	Helical; Potential
	Transmembrane	166 – 186	21	Helical; Potential
	Transmembrane	200 – 220	21	Helical; Potential
	Transmembrane	269 – 289	21	Helical; Potential
	Repeat	1 – 6	6	1
	Repeat	7 – 12	6	2
	Repeat	13 – 18	6	3
	Region	1 – 18	18	3 X 6 AA tandem repeat of M-E-P-T-E-P
	Motif	102 – 106	5	Histidine box-1
	Motif	139 – 143	5	Histidine box-2
	Motif	292 – 296	5	Histidine box-3
Natural variations
	Alternative sequence	1 – 18	18	Missing in isoform 2.		VSP_034320
Experimental info
	Sequence conflict	310	1	K → E in BAC04349. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 10, 2008. Version 2. Checksum: C405D980D1C93439	FASTA	356	40,447
	10 20 30 40 50 60 MEPTEPMEPT EPMEPTEPME PARSAHRGGE ALLRELEVLV QDVVRTSSWW ERHGVDCAIL 70 80 90 100 110 120 ALSLFALPAG FLCLRWENAL VFASGITILG VCHYTLTVKG SHLATHGALT ESKRWSKIWL 130 140 150 160 170 180 LFFVEVCTAF TAEHATHGHV KMHHAYTNVV GLGDSSTWRL PCLNRYVYMF LAPFLLPIAT 190 200 210 220 230 240 PLVAVERLRK VELGTALRTL ALISLGLYSH YWLLLNVSGF KNPSSALGCM FLTRSLLAHP 250 260 270 280 290 300 YLHVNIFQHI GLPMFSRDNK PRRIHMMSLG VLNLARLPVL DWAFGHSIIS CHVEHHLFPR 310 320 330 340 350 LSDNMCLKVK PVVSQFLREK QLPYNEDSYL ARFQLFLRRY EEFMVQAPPI TELVGL
	Isoform 2 [UniParc]. Checksum: 9837E9DE48511B85	FASTA	338	38,393
	10 20 30 40 50 60 MEPARSAHRG GEALLRELEV LVQDVVRTSS WWERHGVDCA ILALSLFALP AGFLCLRWEN 70 80 90 100 110 120 ALVFASGITI LGVCHYTLTV KGSHLATHGA LTESKRWSKI WLLFFVEVCT AFTAEHATHG 130 140 150 160 170 180 HVKMHHAYTN VVGLGDSSTW RLPCLNRYVY MFLAPFLLPI ATPLVAVERL RKVELGTALR 190 200 210 220 230 240 TLALISLGLY SHYWLLLNVS GFKNPSSALG CMFLTRSLLA HPYLHVNIFQ HIGLPMFSRD 250 260 270 280 290 300 NKPRRIHMMS LGVLNLARLP VLDWAFGHSI ISCHVEHHLF PRLSDNMCLK VKPVVSQFLR 310 320 330 EKQLPYNEDS YLARFQLFLR RYEEFMVQAP PITELVGL

References

[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: 15498874] [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: 14702039] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY203929 mRNA. Translation: AAP34452.1. AK094411 mRNA. Translation: BAC04349.1. Sequence problems. BC117230 mRNA. Translation: AAI17231.2.
IPI	IPI00167733. IPI00895913.
RefSeq	NP_835229.2. NM_178128.3.
UniGene	Hs.448845.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N9I5. 1 interaction.
PTM databases
PhosphoSite	Q8N9I5.
Polymorphism databases
DMDM	190359479.
Proteomic databases
PRIDE	Q8N9I5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310226; ENSP00000307821; ENSG00000172782.
GeneID	283985.
KEGG	hsa:283985.
UCSC	uc002jmd.1. human.
Organism-specific databases
CTD	283985.
GeneCards	GC17M072873.
HGNC	HGNC:30459. FADS6.
neXtProt	NX_Q8N9I5.
PharmGKB	PA134883572.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19880.
GeneTree	ENSGT00390000009739.
HOGENOM	HBG715162.
HOVERGEN	HBG096401.
InParanoid	Q8N9I5.
OrthoDB	EOG46MBK2.
Gene expression databases
ArrayExpress	Q8N9I5.
Bgee	Q8N9I5.
CleanEx	HS_FADS6.
Genevestigator	Q8N9I5.
Family and domain databases
InterPro	IPR005804. Fatty_acid_desaturase-1. [Graphical view]
KO	K12419.
Pfam	PF00487. FA_desaturase. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	94407.

Entry information

Entry name

FADS6_HUMAN

Accession

Primary (citable) accession number: Q8N9I5
Secondary accession number(s): Q17RQ7, Q6XYE1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 10, 2008
Last sequence update:	June 10, 2008
Last modified:	January 25, 2012
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.