CB083_HUMAN
ID CB083_HUMAN Reviewed; 150 AA.
AC Q53S99; A2RRG6; B8ZZI8; Q9NPW4;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2005, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Folate transporter-like protein C2orf83;
GN Name=C2orf83;
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=Brain;
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 MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain;
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).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLN-104.
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-104.
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 -!- INTERACTION:
CC Q53S99; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-18232868, EBI-11524452;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q53S99-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q53S99-2; Sequence=VSP_045403;
CC -!- SIMILARITY: Belongs to the reduced folate carrier (RFC) transporter (TC
CC 2.A.48) family. {ECO:0000305}.
CC -!- CAUTION: Although related to reduced folate carrier family, it lacks
CC transmembrane domains, suggesting that it has probably no transporter
CC function. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB95774.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=CAH18470.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK055355; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL359944; CAB95774.1; ALT_SEQ; mRNA.
DR EMBL; CR749679; CAH18470.1; ALT_SEQ; mRNA.
DR EMBL; AC064853; AAX93156.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70873.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70874.1; -; Genomic_DNA.
DR EMBL; BC131618; AAI31619.1; -; mRNA.
DR RefSeq; NP_001155955.1; NM_001162483.1. [Q53S99-2]
DR RefSeq; NP_064546.3; NM_020161.3. [Q53S99-1]
DR AlphaFoldDB; Q53S99; -.
DR BioGRID; 121246; 5.
DR IntAct; Q53S99; 1.
DR iPTMnet; Q53S99; -.
DR BioMuta; C2orf83; -.
DR PaxDb; Q53S99; -.
DR PRIDE; Q53S99; -.
DR DNASU; 56918; -.
DR GeneID; 56918; -.
DR UCSC; uc002vph.4; human. [Q53S99-1]
DR CTD; 56918; -.
DR DisGeNET; 56918; -.
DR GeneCards; C2orf83; -.
DR HGNC; HGNC:25344; C2orf83.
DR neXtProt; NX_Q53S99; -.
DR PharmGKB; PA164717149; -.
DR VEuPathDB; HostDB:ENSG00000042304; -.
DR eggNOG; KOG3810; Eukaryota.
DR HOGENOM; CLU_1791296_0_0_1; -.
DR InParanoid; Q53S99; -.
DR OMA; SHSRWFQ; -.
DR OrthoDB; 1405747at2759; -.
DR PhylomeDB; Q53S99; -.
DR TreeFam; TF341245; -.
DR PathwayCommons; Q53S99; -.
DR SignaLink; Q53S99; -.
DR BioGRID-ORCS; 56918; 9 hits in 1030 CRISPR screens.
DR ChiTaRS; C2orf83; human.
DR GenomeRNAi; 56918; -.
DR Pharos; Q53S99; Tdark.
DR PRO; PR:Q53S99; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q53S99; protein.
DR Genevisible; Q53S99; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:InterPro.
DR GO; GO:0090482; F:vitamin transmembrane transporter activity; IEA:InterPro.
DR InterPro; IPR002666; Folate_carrier.
DR Pfam; PF01770; Folate_carrier; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..150
FT /note="Folate transporter-like protein C2orf83"
FT /id="PRO_0000320550"
FT REGION 118..137
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 64..150
FT /note="LLSPSEKLEPWDPGMRKLTVQTCGLTFIHPAGHGLCHPTAEASAETLSSTAL
FT NRPSVREGACNEKSTENKKPQDSVLWSHSRWFQGN -> CFTCRTAPSLVMVLSWKSGV
FT RREVPVHPSYAKY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045403"
FT VARIANT 45
FT /note="S -> L (in dbSNP:rs28739019)"
FT /id="VAR_061865"
FT VARIANT 104
FT /note="E -> Q (in dbSNP:rs2138402)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_039201"
FT CONFLICT 11
FT /note="N -> D (in Ref. 1; AK055355)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 150 AA; 16373 MW; 240FC8BFB6EB5B44 CRC64;
MEDYALTFGI NPFIALMIQP IVTMTVVDNQ GLGLPVDIQH KAKPSPKASQ MLPPDLGPPS
FQNLLSPSEK LEPWDPGMRK LTVQTCGLTF IHPAGHGLCH PTAEASAETL SSTALNRPSV
REGACNEKST ENKKPQDSVL WSHSRWFQGN
