MFD4A_HUMAN
ID MFD4A_HUMAN Reviewed; 514 AA.
AC Q8N468; B7Z8X3; Q6UY25; Q8NAY0; Q8TCP4;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 3.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Major facilitator superfamily domain-containing protein 4A;
DE AltName: Full=Major facilitator superfamily domain-containing protein 4;
GN Name=MFSD4A {ECO:0000312|HGNC:HGNC:25433}; Synonyms=MFSD4;
GN ORFNames=UNQ3064/PRO9894;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney, and Trachea;
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 MRNA] (ISOFORM 1), AND VARIANTS ILE-228
RP AND ALA-314.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 177-514 (ISOFORM 1), AND VARIANT
RP ALA-314.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 204-514 (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
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=Q8N468-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N468-2; Sequence=VSP_057053;
CC -!- SIMILARITY: Belongs to the major facilitator superfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ88474.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK091896; BAC03767.1; -; mRNA.
DR EMBL; AK304120; BAH14109.1; -; mRNA.
DR EMBL; AC096533; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC036549; AAH36549.2; -; mRNA.
DR EMBL; AY358107; AAQ88474.1; ALT_INIT; mRNA.
DR EMBL; AL713676; CAD28481.1; -; mRNA.
DR CCDS; CCDS1455.1; -. [Q8N468-1]
DR RefSeq; NP_857595.3; NM_181644.4. [Q8N468-1]
DR RefSeq; XP_011507531.1; XM_011509229.2. [Q8N468-2]
DR AlphaFoldDB; Q8N468; -.
DR BioGRID; 127170; 268.
DR IntAct; Q8N468; 13.
DR MINT; Q8N468; -.
DR STRING; 9606.ENSP00000356115; -.
DR TCDB; 2.A.1.7.24; the major facilitator superfamily (mfs).
DR GlyGen; Q8N468; 1 site.
DR iPTMnet; Q8N468; -.
DR PhosphoSitePlus; Q8N468; -.
DR BioMuta; MFSD4A; -.
DR DMDM; 124015159; -.
DR jPOST; Q8N468; -.
DR MassIVE; Q8N468; -.
DR PaxDb; Q8N468; -.
DR PeptideAtlas; Q8N468; -.
DR PRIDE; Q8N468; -.
DR ProteomicsDB; 6988; -.
DR ProteomicsDB; 71891; -. [Q8N468-1]
DR Antibodypedia; 34569; 84 antibodies from 15 providers.
DR DNASU; 148808; -.
DR Ensembl; ENST00000367147.9; ENSP00000356115.4; ENSG00000174514.13. [Q8N468-1]
DR GeneID; 148808; -.
DR KEGG; hsa:148808; -.
DR MANE-Select; ENST00000367147.9; ENSP00000356115.4; NM_181644.5; NP_857595.3.
DR UCSC; uc001hcv.5; human. [Q8N468-1]
DR CTD; 148808; -.
DR DisGeNET; 148808; -.
DR GeneCards; MFSD4A; -.
DR HGNC; HGNC:25433; MFSD4A.
DR HPA; ENSG00000174514; Group enriched (kidney, stomach).
DR neXtProt; NX_Q8N468; -.
DR OpenTargets; ENSG00000174514; -.
DR PharmGKB; PA142671465; -.
DR VEuPathDB; HostDB:ENSG00000174514; -.
DR eggNOG; ENOG502QRVK; Eukaryota.
DR GeneTree; ENSGT00530000063320; -.
DR InParanoid; Q8N468; -.
DR OMA; EAWRWSN; -.
DR PhylomeDB; Q8N468; -.
DR TreeFam; TF314613; -.
DR PathwayCommons; Q8N468; -.
DR SignaLink; Q8N468; -.
DR BioGRID-ORCS; 148808; 12 hits in 1066 CRISPR screens.
DR ChiTaRS; MFSD4A; human.
DR GenomeRNAi; 148808; -.
DR Pharos; Q8N468; Tdark.
DR PRO; PR:Q8N468; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8N468; protein.
DR Bgee; ENSG00000174514; Expressed in palpebral conjunctiva and 175 other tissues.
DR ExpressionAtlas; Q8N468; baseline and differential.
DR Genevisible; Q8N468; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005355; F:glucose transmembrane transporter activity; IBA:GO_Central.
DR Gene3D; 1.20.1250.20; -; 1.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR036259; MFS_trans_sf.
DR Pfam; PF07690; MFS_1; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..514
FT /note="Major facilitator superfamily domain-containing
FT protein 4A"
FT /id="PRO_0000273395"
FT TRANSMEM 19..39
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 53..73
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 82..102
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 107..127
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 139..159
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 221..241
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 307..327
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 347..367
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 376..396
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 400..420
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 438..458
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 466..486
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 177
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 144..230
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057053"
FT VARIANT 228
FT /note="L -> I (in dbSNP:rs17857119)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030142"
FT VARIANT 314
FT /note="G -> A (in dbSNP:rs7526132)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_030143"
FT CONFLICT 230
FT /note="N -> D (in Ref. 1; BAC03767)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 514 AA; 56265 MW; EFA78C910944CF86 CRC64;
MGCDGRVSGL LRRNLQPTLT YWSVFFSFGL CIAFLGPTLL DLRCQTHSSL PQISWVFFSQ
QLCLLLGSAL GGVFKRTLAQ SLWALFTSSL AISLVFAVIP FCRDVKVLAS VMALAGLAMG
CIDTVANMQL VRMYQKDSAV FLQVLHFFVG FGALLSPLIA DPFLSEANCL PANSTANTTS
RGHLFHVSRV LGQHHVDAKP WSNQTFPGLT PKDGAGTRVS YAFWIMALIN LPVPMAVLML
LSKERLLTCC PQRRPLLLSA DELALETQPP EKEDASSLPP KFQSHLGHED LFSCCQRKNL
RGAPYSFFAI HITGALVLFM TDGLTGAYSA FVYSYAVEKP LSVGHKVAGY LPSLFWGFIT
LGRLLSIPIS SRMKPATMVF INVVGVVVTF LVLLIFSYNV VFLFVGTASL GLFLSSTFPS
MLAYTEDSLQ YKGCATTVLV TGAGVGEMVL QMLVGSIFQA QGSYSFLVCG VIFGCLAFTF
YILLLFFHRM HPGLPSVPTQ DRSIGMENSE CYQR
