FADS6_HUMAN
ID FADS6_HUMAN Reviewed; 356 AA.
AC Q8N9I5; Q17RQ7; Q6XYE1;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-JUN-2008, sequence version 2.
DT 25-MAY-2022, entry version 127.
DE RecName: Full=Fatty acid desaturase 6;
DE EC=1.14.19.-;
GN Name=FADS6; ORFNames=FP18279;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- PATHWAY: Lipid metabolism; fatty acid metabolism.
CC -!- INTERACTION:
CC Q8N9I5; P53365: ARFIP2; NbExp=3; IntAct=EBI-3943864, EBI-638194;
CC Q8N9I5; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-3943864, EBI-3867333;
CC Q8N9I5; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-3943864, EBI-517508;
CC Q8N9I5; Q13643: FHL3; NbExp=3; IntAct=EBI-3943864, EBI-741101;
CC Q8N9I5; Q05329: GAD2; NbExp=3; IntAct=EBI-3943864, EBI-9304251;
CC Q8N9I5; Q9BT40: INPP5K; NbExp=3; IntAct=EBI-3943864, EBI-749162;
CC Q8N9I5; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-3943864, EBI-11741292;
CC Q8N9I5; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-3943864, EBI-10172290;
CC Q8N9I5; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-3943864, EBI-10171774;
CC Q8N9I5; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-3943864, EBI-3957694;
CC Q8N9I5; Q99750: MDFI; NbExp=3; IntAct=EBI-3943864, EBI-724076;
CC Q8N9I5; Q96E29: MTERF3; NbExp=3; IntAct=EBI-3943864, EBI-7825321;
CC Q8N9I5; Q96AL5: PBX3; NbExp=3; IntAct=EBI-3943864, EBI-741171;
CC Q8N9I5; Q96T60: PNKP; NbExp=3; IntAct=EBI-3943864, EBI-1045072;
CC Q8N9I5; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-3943864, EBI-8638294;
CC Q8N9I5; Q63HR2: TNS2; NbExp=3; IntAct=EBI-3943864, EBI-949753;
CC Q8N9I5; Q13049: TRIM32; NbExp=3; IntAct=EBI-3943864, EBI-742790;
CC Q8N9I5; P49638: TTPA; NbExp=3; IntAct=EBI-3943864, EBI-10210710;
CC Q8N9I5; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-3943864, EBI-7353612;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9I5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9I5-2; Sequence=VSP_034320;
CC -!- SIMILARITY: Belongs to the fatty acid desaturase type 1 family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04349.1; Type=Miscellaneous discrepancy; Note=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.; Evidence={ECO:0000305};
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DR EMBL; AY203929; AAP34452.1; -; mRNA.
DR EMBL; AK094411; BAC04349.1; ALT_SEQ; mRNA.
DR EMBL; BC117230; AAI17231.2; -; mRNA.
DR RefSeq; NP_835229.3; NM_178128.5.
DR AlphaFoldDB; Q8N9I5; -.
DR BioGRID; 129719; 19.
DR IntAct; Q8N9I5; 20.
DR STRING; 9606.ENSP00000481684; -.
DR iPTMnet; Q8N9I5; -.
DR PhosphoSitePlus; Q8N9I5; -.
DR BioMuta; FADS6; -.
DR DMDM; 190359479; -.
DR EPD; Q8N9I5; -.
DR MassIVE; Q8N9I5; -.
DR PaxDb; Q8N9I5; -.
DR PeptideAtlas; Q8N9I5; -.
DR PRIDE; Q8N9I5; -.
DR DNASU; 283985; -.
DR GeneID; 283985; -.
DR KEGG; hsa:283985; -.
DR CTD; 283985; -.
DR DisGeNET; 283985; -.
DR GeneCards; FADS6; -.
DR HGNC; HGNC:30459; FADS6.
DR neXtProt; NX_Q8N9I5; -.
DR PharmGKB; PA134883572; -.
DR eggNOG; ENOG502QQ1J; Eukaryota.
DR InParanoid; Q8N9I5; -.
DR OrthoDB; 1379984at2759; -.
DR PhylomeDB; Q8N9I5; -.
DR TreeFam; TF333083; -.
DR PathwayCommons; Q8N9I5; -.
DR SignaLink; Q8N9I5; -.
DR SIGNOR; Q8N9I5; -.
DR UniPathway; UPA00199; -.
DR BioGRID-ORCS; 283985; 14 hits in 1066 CRISPR screens.
DR GenomeRNAi; 283985; -.
DR Pharos; Q8N9I5; Tdark.
DR PRO; PR:Q8N9I5; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8N9I5; protein.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016717; F:oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water; IBA:GO_Central.
DR GO; GO:0006633; P:fatty acid biosynthetic process; IEA:UniProtKB-KW.
DR GO; GO:0006629; P:lipid metabolic process; IBA:GO_Central.
DR InterPro; IPR005804; FA_desaturase_dom.
DR InterPro; IPR012171; Fatty_acid_desaturase.
DR PANTHER; PTHR19353; PTHR19353; 1.
DR Pfam; PF00487; FA_desaturase; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Fatty acid biosynthesis; Fatty acid metabolism;
KW Lipid biosynthesis; Lipid metabolism; Membrane; Oxidoreductase;
KW Reference proteome; Repeat; Transmembrane; Transmembrane helix.
FT CHAIN 1..356
FT /note="Fatty acid desaturase 6"
FT /id="PRO_0000341546"
FT TRANSMEM 54..74
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 118..138
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 166..186
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 200..220
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 269..289
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REPEAT 1..6
FT /note="1"
FT REPEAT 7..12
FT /note="2"
FT REPEAT 13..18
FT /note="3"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1..18
FT /note="3 X 6 AA tandem repeat of M-E-P-T-E-P"
FT MOTIF 102..106
FT /note="Histidine box-1"
FT MOTIF 139..143
FT /note="Histidine box-2"
FT MOTIF 292..296
FT /note="Histidine box-3"
FT COMPBIAS 1..16
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..18
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15498874"
FT /id="VSP_034320"
FT CONFLICT 310
FT /note="K -> E (in Ref. 2; BAC04349)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 356 AA; 40447 MW; C405D980D1C93439 CRC64;
MEPTEPMEPT EPMEPTEPME PARSAHRGGE ALLRELEVLV QDVVRTSSWW ERHGVDCAIL
ALSLFALPAG FLCLRWENAL VFASGITILG VCHYTLTVKG SHLATHGALT ESKRWSKIWL
LFFVEVCTAF TAEHATHGHV KMHHAYTNVV GLGDSSTWRL PCLNRYVYMF LAPFLLPIAT
PLVAVERLRK VELGTALRTL ALISLGLYSH YWLLLNVSGF KNPSSALGCM FLTRSLLAHP
YLHVNIFQHI GLPMFSRDNK PRRIHMMSLG VLNLARLPVL DWAFGHSIIS CHVEHHLFPR
LSDNMCLKVK PVVSQFLREK QLPYNEDSYL ARFQLFLRRY EEFMVQAPPI TELVGL
