MFSD9_HUMAN
ID MFSD9_HUMAN Reviewed; 474 AA.
AC Q8NBP5; Q4ZG89; Q53TU0; Q96GQ4; Q9BRI8;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 02-OCT-2007, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Major facilitator superfamily domain-containing protein 9;
GN Name=MFSD9; ORFNames=PSEC0066;
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].
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Ovary;
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 VARIANTS [LARGE SCALE ANALYSIS] ALA-59 AND ALA-84.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the major facilitator superfamily.
CC {ECO:0000305}.
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DR EMBL; AK075376; BAC11577.1; -; mRNA.
DR EMBL; AC007239; AAX88847.1; -; Genomic_DNA.
DR EMBL; AC007251; AAY14910.1; -; Genomic_DNA.
DR EMBL; CH471127; EAX01787.1; -; Genomic_DNA.
DR EMBL; BC006242; AAH06242.1; -; mRNA.
DR EMBL; BC009310; AAH09310.2; -; mRNA.
DR CCDS; CCDS2063.1; -.
DR RefSeq; NP_001309009.1; NM_001322080.1.
DR RefSeq; NP_001309010.1; NM_001322081.1.
DR RefSeq; NP_116107.3; NM_032718.4.
DR AlphaFoldDB; Q8NBP5; -.
DR SMR; Q8NBP5; -.
DR BioGRID; 124268; 8.
DR IntAct; Q8NBP5; 1.
DR STRING; 9606.ENSP00000258436; -.
DR TCDB; 2.A.1.2.105; the major facilitator superfamily (mfs).
DR iPTMnet; Q8NBP5; -.
DR PhosphoSitePlus; Q8NBP5; -.
DR BioMuta; MFSD9; -.
DR DMDM; 158706133; -.
DR EPD; Q8NBP5; -.
DR jPOST; Q8NBP5; -.
DR MassIVE; Q8NBP5; -.
DR MaxQB; Q8NBP5; -.
DR PaxDb; Q8NBP5; -.
DR PeptideAtlas; Q8NBP5; -.
DR PRIDE; Q8NBP5; -.
DR ProteomicsDB; 72806; -.
DR Antibodypedia; 65316; 8 antibodies from 4 providers.
DR DNASU; 84804; -.
DR Ensembl; ENST00000258436.10; ENSP00000258436.5; ENSG00000135953.11.
DR GeneID; 84804; -.
DR KEGG; hsa:84804; -.
DR MANE-Select; ENST00000258436.10; ENSP00000258436.5; NM_032718.5; NP_116107.3.
DR UCSC; uc002tcb.3; human.
DR CTD; 84804; -.
DR DisGeNET; 84804; -.
DR GeneCards; MFSD9; -.
DR HGNC; HGNC:28158; MFSD9.
DR HPA; ENSG00000135953; Low tissue specificity.
DR neXtProt; NX_Q8NBP5; -.
DR OpenTargets; ENSG00000135953; -.
DR PharmGKB; PA162395873; -.
DR VEuPathDB; HostDB:ENSG00000135953; -.
DR eggNOG; KOG2615; Eukaryota.
DR GeneTree; ENSGT00940000159390; -.
DR HOGENOM; CLU_001265_10_12_1; -.
DR InParanoid; Q8NBP5; -.
DR OMA; STFVGCW; -.
DR OrthoDB; 1090653at2759; -.
DR PhylomeDB; Q8NBP5; -.
DR TreeFam; TF314512; -.
DR PathwayCommons; Q8NBP5; -.
DR SignaLink; Q8NBP5; -.
DR BioGRID-ORCS; 84804; 15 hits in 1084 CRISPR screens.
DR ChiTaRS; MFSD9; human.
DR GenomeRNAi; 84804; -.
DR Pharos; Q8NBP5; Tdark.
DR PRO; PR:Q8NBP5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8NBP5; protein.
DR Bgee; ENSG00000135953; Expressed in tendon of biceps brachii and 137 other tissues.
DR ExpressionAtlas; Q8NBP5; baseline and differential.
DR Genevisible; Q8NBP5; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0022857; F:transmembrane transporter activity; IEA:InterPro.
DR Gene3D; 1.20.1250.20; -; 1.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR020846; MFS_dom.
DR InterPro; IPR036259; MFS_trans_sf.
DR InterPro; IPR005829; Sugar_transporter_CS.
DR InterPro; IPR001958; Tet-R_TetA/multi-R_MdtG.
DR Pfam; PF07690; MFS_1; 1.
DR PRINTS; PR01035; TCRTETA.
DR SUPFAM; SSF103473; SSF103473; 1.
DR PROSITE; PS50850; MFS; 1.
PE 2: Evidence at transcript level;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..474
FT /note="Major facilitator superfamily domain-containing
FT protein 9"
FT /id="PRO_0000305025"
FT TRANSMEM 45..65
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 80..100
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..136
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 167..187
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 197..217
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 288..308
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 323..343
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 359..379
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 436..456
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 59
FT /note="G -> A (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035966"
FT VARIANT 84
FT /note="V -> A (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035967"
FT VARIANT 129
FT /note="A -> S (in dbSNP:rs7601509)"
FT /id="VAR_035152"
FT VARIANT 288
FT /note="I -> T (in dbSNP:rs33993717)"
FT /id="VAR_035153"
FT VARIANT 376
FT /note="A -> T (in dbSNP:rs34096572)"
FT /id="VAR_061383"
FT CONFLICT 190
FT /note="L -> P (in Ref. 1; BAC11577)"
FT /evidence="ECO:0000305"
FT CONFLICT 278
FT /note="K -> R (in Ref. 1; BAC11577)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 474 AA; 50619 MW; D2D7CA146876384B CRC64;
MELGGHWDMN SAPRLVSETA ERKQEQKTGT EAEAADSGAV GARRFLLCLY LVGFLDLFGV
SMVVPLLSLH VKSLGASPTV AGIVGSSYGI LQLFSSTLVG CWSDVVGRRS SLLACILLSA
LGYLLLGAAT NVFLFVLARV PAGIFKHTLS ISRALLSDVV PEKERPLVIG HFNTASGVGF
ILGPVVGGYL TELEDGFYLT AFICFLVFIL NAGLVWFFPW REAKPGSTEK GLPLRKTHVL
LGRSHDTVQE AATSRRARAS KKTAQPWVEV VLALRNMKNL LFSEMWDIFL VRLLMAMAVM
LYYSNFVLAL EERFGVRPKV TGYLISYSSM LGAVAGLALG PILRLYKHNS QALLLHSSIL
TCTLLLLYSL APTMGAVVLS STLLSFSTAI GRTCITDLQL TVGGAQASGT LIGVGQSVTA
VGRIIAPLLS GVAQEVSPCG PPSLGAVLAL VAIFIMSLNK RHSSGDGNSK LKSE
