ID TM241_MOUSE Reviewed; 297 AA.
AC Q3UME2; Q8BQ16; Q8CAM4; Q8CAM9; Q8CD42;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 2.
DT 27-MAR-2024, entry version 100.
DE RecName: Full=UDP-N-acetylglucosamine transporter TMEM241;
DE AltName: Full=Transmembrane protein 241;
GN Name=Tmem241;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4).
RC STRAIN=C57BL/6J;
RC TISSUE=Hypothalamus, Mammary gland, Spinal ganglion, and Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Eye;
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 [3]
RP DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=37890669; DOI=10.1016/j.jlr.2023.100465;
RA Zhao N., Deng G., Yuan P.X., Zhang Y.F., Jiang L.Y., Zhao X., Song B.L.;
RT "TMEM241 is a UDP-N-acetylglucosamine transporter required for M6P
RT modification of NPC2 and cholesterol transport.";
RL J. Lipid Res. 0:0-0(2023).
CC -!- FUNCTION: Golgi-localized UDP-N-acetylglucosamine (UDP-GlcNAc)
CC transporter that transports UDP-N-acetylglucosamine into Golgi lumen.
CC Contributes to lysosomal targeting of NPC2, a key protein required for
CC lysosomal cholesterol exiting, and that utilizes the mannose-6-
CC phosphate (M6P) modification pathway for its lysosomal targeting.
CC {ECO:0000250|UniProtKB:Q24JQ0}.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, cis-Golgi network membrane
CC {ECO:0000250|UniProtKB:Q24JQ0}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q3UME2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3UME2-2; Sequence=VSP_028714;
CC Name=3;
CC IsoId=Q3UME2-3; Sequence=VSP_028710, VSP_028713;
CC Name=4;
CC IsoId=Q3UME2-4; Sequence=VSP_028709, VSP_028711, VSP_028712;
CC -!- TISSUE SPECIFICITY: Widely expressed with high expression in lung.
CC {ECO:0000269|PubMed:37890669}.
CC -!- DISRUPTION PHENOTYPE: Deficient mice are grossly normal and show
CC similar body weight, total cholesterol in serum and triglyceride in
CC serum with wild-type mice. However, Tmem241 ablation causes ectopic
CC cholesterol accumulation in lung cells, lung inflammatory infiltration
CC and hypokinesia. {ECO:0000269|PubMed:37890669}.
CC -!- SIMILARITY: Belongs to the nucleotide-sugar transporter family. SLC35A
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC30011.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK031517; BAC27431.1; -; mRNA.
DR EMBL; AK038419; BAC29994.1; -; mRNA.
DR EMBL; AK038472; BAC30011.1; ALT_FRAME; mRNA.
DR EMBL; AK051727; BAC34738.1; -; mRNA.
DR EMBL; AK144963; BAE26156.1; -; mRNA.
DR EMBL; BC094382; AAH94382.1; -; mRNA.
DR CCDS; CCDS84358.1; -. [Q3UME2-1]
DR CCDS; CCDS84359.1; -. [Q3UME2-2]
DR RefSeq; NP_001276595.1; NM_001289666.1. [Q3UME2-1]
DR RefSeq; NP_001276596.1; NM_001289667.1.
DR RefSeq; NP_848916.2; NM_178801.5. [Q3UME2-2]
DR AlphaFoldDB; Q3UME2; -.
DR SMR; Q3UME2; -.
DR STRING; 10090.ENSMUSP00000147687; -.
DR PhosphoSitePlus; Q3UME2; -.
DR PaxDb; 10090-ENSMUSP00000052001; -.
DR Antibodypedia; 54177; 29 antibodies from 12 providers.
DR DNASU; 338363; -.
DR Ensembl; ENSMUST00000055447.14; ENSMUSP00000052001.8; ENSMUSG00000049411.16. [Q3UME2-2]
DR Ensembl; ENSMUST00000092075.5; ENSMUSP00000089709.5; ENSMUSG00000049411.16. [Q3UME2-3]
DR Ensembl; ENSMUST00000209859.2; ENSMUSP00000147687.2; ENSMUSG00000049411.16. [Q3UME2-1]
DR Ensembl; ENSMUST00000211298.2; ENSMUSP00000147954.2; ENSMUSG00000049411.16. [Q3UME2-3]
DR GeneID; 338363; -.
DR KEGG; mmu:338363; -.
DR UCSC; uc008ebv.3; mouse. [Q3UME2-1]
DR UCSC; uc008ebw.2; mouse. [Q3UME2-2]
DR UCSC; uc008ebx.2; mouse. [Q3UME2-4]
DR AGR; MGI:2442435; -.
DR CTD; 85019; -.
DR MGI; MGI:2442435; Tmem241.
DR VEuPathDB; HostDB:ENSMUSG00000049411; -.
DR eggNOG; KOG1444; Eukaryota.
DR GeneTree; ENSGT00510000048348; -.
DR InParanoid; Q3UME2; -.
DR OMA; WAIIHLF; -.
DR OrthoDB; 3088910at2759; -.
DR PhylomeDB; Q3UME2; -.
DR BioGRID-ORCS; 338363; 1 hit in 41 CRISPR screens.
DR ChiTaRS; Tmem241; mouse.
DR PRO; PR:Q3UME2; -.
DR Proteomes; UP000000589; Chromosome 18.
DR RNAct; Q3UME2; Protein.
DR Bgee; ENSMUSG00000049411; Expressed in animal zygote and 161 other cell types or tissues.
DR ExpressionAtlas; Q3UME2; baseline and differential.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0015297; F:antiporter activity; IBA:GO_Central.
DR GO; GO:0005462; F:UDP-N-acetylglucosamine transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:1990569; P:UDP-N-acetylglucosamine transmembrane transport; ISS:UniProtKB.
DR PANTHER; PTHR11132; SOLUTE CARRIER FAMILY 35; 1.
DR PANTHER; PTHR11132:SF258; TRANSMEMBRANE PROTEIN 241; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Golgi apparatus; Membrane; Reference proteome;
KW Sugar transport; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..297
FT /note="UDP-N-acetylglucosamine transporter TMEM241"
FT /id="PRO_0000307317"
FT TRANSMEM 7..29
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 32..52
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 69..89
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 93..113
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 121..141
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 146..166
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 211..231
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 250..270
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 271..291
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 65
FT /note="P -> PSALSDSARMADHQAPRILLSPQCWDYRCALPHPDSPWVLGILLRSP
FT SLHI (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_028709"
FT VAR_SEQ 177..188
FT /note="SDIDQQYLNYIF -> RGPACWGLPLPS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_028710"
FT VAR_SEQ 177
FT /note="S -> R (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_028711"
FT VAR_SEQ 178..297
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_028712"
FT VAR_SEQ 189..297
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_028713"
FT VAR_SEQ 277..297
FT /note="CFLLGGLGEALLVFSERRSSS -> WCQPAG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_028714"
FT CONFLICT 71
FT /note="I -> M (in Ref. 1; BAE26156)"
FT /evidence="ECO:0000305"
FT CONFLICT 85
FT /note="A -> S (in Ref. 1; BAE26156)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 297 AA; 32965 MW; 281824EDAE3196A6 CRC64;
MNVRRSLLGL TFCTCYLASH LTNKYVLSVL KFTYPTLFQG WQTFIGGLLL HMSWKLGWVE
LHSSPRSDVL IWLPASALFV GIIYAGSKAL SRLAVPVFFI LHNVAEVLTC GYQKCVWKEK
TSLSKICSAL FLLAAAGCLP FQDSQFDPDG YFWALIHIFC VGSYKILRKS RKPTVLSDID
QQYLNYIFSM VLLAFASHPT GDLFGALDFP FLYFYRFHGS CCASGVLGFF LMLSTVRLRS
ILAPGQCAAW ILCAKVVTAG LSMLLFDMAL TKATVGCFLL GGLGEALLVF SERRSSS
//
