S35F3_HUMAN
ID S35F3_HUMAN Reviewed; 421 AA.
AC Q8IY50; Q5TDD6; Q8N9C9;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Putative thiamine transporter SLC35F3 {ECO:0000305};
DE AltName: Full=Solute carrier family 35 member F3;
GN Name=SLC35F3;
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).
RC TISSUE=Hippocampus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT CYS-231.
RC TISSUE=Brain;
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).
RN [5]
RP FUNCTION.
RX PubMed=24509276; DOI=10.1016/j.jacc.2014.01.007;
RG International Consortium for Blood Pressure Genome-Wide Association Studies;
RA Zhang K., Huentelman M.J., Rao F., Sun E.I., Corneveaux J.J., Schork A.J.,
RA Wei Z., Waalen J., Miramontes-Gonzalez J.P., Hightower C.M., Maihofer A.X.,
RA Mahata M., Pastinen T., Ehret G.B., Schork N.J., Eskin E., Nievergelt C.M.,
RA Saier M.H. Jr., O'Connor D.T.;
RT "Genetic implication of a novel thiamine transporter in human
RT hypertension.";
RL J. Am. Coll. Cardiol. 63:1542-1555(2014).
CC -!- FUNCTION: May be a thiamine transporter. {ECO:0000303|PubMed:24509276}.
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=Q8IY50-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IY50-2; Sequence=VSP_028850;
CC -!- MISCELLANEOUS: Promotes thiamine uptake when expressed in E.coli.
CC Individuals with blood hypertension and a SLC35F3 risk allele T/T
CC homozygosity (intronic variant rs17514104) show a significant reduction
CC in blood thiamine content. {ECO:0000269|PubMed:24509276}.
CC -!- SIMILARITY: Belongs to the SLC35F solute transporter family.
CC {ECO:0000305}.
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DR EMBL; AK095031; BAC04479.1; -; mRNA.
DR EMBL; AL713868; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL122008; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471098; EAW69991.1; -; Genomic_DNA.
DR EMBL; BC037878; AAH37878.1; -; mRNA.
DR CCDS; CCDS1600.1; -. [Q8IY50-2]
DR CCDS; CCDS73050.1; -. [Q8IY50-1]
DR RefSeq; NP_001287774.1; NM_001300845.1. [Q8IY50-1]
DR RefSeq; NP_775779.1; NM_173508.3. [Q8IY50-2]
DR AlphaFoldDB; Q8IY50; -.
DR BioGRID; 127158; 2.
DR STRING; 9606.ENSP00000355577; -.
DR TCDB; 2.A.7.24.8; the drug/metabolite transporter (dmt) superfamily.
DR iPTMnet; Q8IY50; -.
DR PhosphoSitePlus; Q8IY50; -.
DR BioMuta; SLC35F3; -.
DR DMDM; 160177558; -.
DR jPOST; Q8IY50; -.
DR MassIVE; Q8IY50; -.
DR MaxQB; Q8IY50; -.
DR PaxDb; Q8IY50; -.
DR PeptideAtlas; Q8IY50; -.
DR PRIDE; Q8IY50; -.
DR ProteomicsDB; 71109; -. [Q8IY50-1]
DR ProteomicsDB; 71110; -. [Q8IY50-2]
DR Antibodypedia; 34691; 44 antibodies from 16 providers.
DR DNASU; 148641; -.
DR Ensembl; ENST00000366617.3; ENSP00000355576.3; ENSG00000183780.13. [Q8IY50-1]
DR Ensembl; ENST00000366618.8; ENSP00000355577.3; ENSG00000183780.13. [Q8IY50-2]
DR GeneID; 148641; -.
DR KEGG; hsa:148641; -.
DR MANE-Select; ENST00000366618.8; ENSP00000355577.3; NM_173508.4; NP_775779.1. [Q8IY50-2]
DR UCSC; uc001hvy.1; human. [Q8IY50-1]
DR CTD; 148641; -.
DR DisGeNET; 148641; -.
DR GeneCards; SLC35F3; -.
DR HGNC; HGNC:23616; SLC35F3.
DR HPA; ENSG00000183780; Tissue enriched (brain).
DR neXtProt; NX_Q8IY50; -.
DR OpenTargets; ENSG00000183780; -.
DR PharmGKB; PA134938022; -.
DR VEuPathDB; HostDB:ENSG00000183780; -.
DR eggNOG; KOG4314; Eukaryota.
DR GeneTree; ENSGT00390000008727; -.
DR HOGENOM; CLU_022280_0_1_1; -.
DR InParanoid; Q8IY50; -.
DR OMA; MCKSPER; -.
DR OrthoDB; 639186at2759; -.
DR PhylomeDB; Q8IY50; -.
DR TreeFam; TF313798; -.
DR PathwayCommons; Q8IY50; -.
DR BioGRID-ORCS; 148641; 7 hits in 1066 CRISPR screens.
DR ChiTaRS; SLC35F3; human.
DR GenomeRNAi; 148641; -.
DR Pharos; Q8IY50; Tbio.
DR PRO; PR:Q8IY50; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8IY50; protein.
DR Bgee; ENSG00000183780; Expressed in Brodmann (1909) area 23 and 121 other tissues.
DR Genevisible; Q8IY50; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015888; P:thiamine transport; IDA:UniProtKB.
DR InterPro; IPR000620; EamA_dom.
DR InterPro; IPR026505; Solute_c_fam_35_mem_F3/F4.
DR PANTHER; PTHR19346; PTHR19346; 1.
DR Pfam; PF00892; EamA; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..421
FT /note="Putative thiamine transporter SLC35F3"
FT /id="PRO_0000307879"
FT TRANSMEM 66..86
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 98..118
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 149..169
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..199
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 208..228
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 232..252
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 266..286
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 305..325
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 326..346
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 352..372
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 25..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 393..421
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..26
FT /note="MKKHSARVAPLSACNSPVLTLTKVEG -> MGIREFPSGAPRGKSIAVGMRR
FT SPDVSPRRLSDISPQLRQLKYLVVDEAIKEDLKWSRSVEDLTSGPVGLTSIEERILRIT
FT GYYGYQPWAASCKR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028850"
FT VARIANT 231
FT /note="S -> C (in dbSNP:rs17853780)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036700"
SQ SEQUENCE 421 AA; 46817 MW; 7D365662E28AE251 CRC64;
MKKHSARVAP LSACNSPVLT LTKVEGEERP RDSPGPAEAQ APAGVEAGGR ASRRCWTCSR
AQLKKIFWGV AVVLCVCSSW AGSTQLAKLT FRKFDAPFTL TWFATNWNFL FFPLYYVGHV
CKSTEKQSVK QRYRECCRFF GDNGLTLKVF FTKAAPFGVL WTLTNYLYLH AIKKINTTDV
SVLFCCNKAF VFLLSWIVLR DRFMGVRIVA AILAIAGIVM MTYADGFHSH SVIGIALVVA
SASMSALYKV LFKLLLGSAK FGEAALFLSI LGVFNILFIT CIPIILYFTK VEYWSSFDDI
PWGNLCGFSV LLLTFNIVLN FGIAVTYPTL MSLGIVLSIP VNAVIDHYTS QIVFNGVRVI
AIIIIGLGFL LLLLPEEWDV WLIKLLTRLK VRKKEEPAEG AADLSSGPQS KNRRARPSFA
R
