TM218_MOUSE
ID TM218_MOUSE Reviewed; 115 AA.
AC Q9CQ44; Q8CF13;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Transmembrane protein 218;
GN Name=Tmem218;
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].
RC STRAIN=C57BL/6J; TISSUE=Brain, Skin, and Stomach;
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].
RC STRAIN=FVB/N; TISSUE=Liver;
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 POSSIBLE FUNCTION.
RX PubMed=25161209; DOI=10.1177/0300985814547392;
RA Vogel P., Gelfman C.M., Issa T., Payne B.J., Hansen G.M., Read R.W.,
RA Jones C., Pitcher M.R., Ding Z.M., DaCosta C.M., Shadoan M.K., Vance R.B.,
RA Powell D.R.;
RT "Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel
RT mouse model for Senior-Loeken syndrome?";
RL Vet. Pathol. 52:580-595(2015).
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=26982032; DOI=10.1371/journal.pbio.1002416;
RA Li C., Jensen V.L., Park K., Kennedy J., Garcia-Gonzalo F.R., Romani M.,
RA De Mori R., Bruel A.L., Gaillard D., Doray B., Lopez E., Riviere J.B.,
RA Faivre L., Thauvin-Robinet C., Reiter J.F., Blacque O.E., Valente E.M.,
RA Leroux M.R.;
RT "MKS5 and CEP290 dependent assembly pathway of the ciliary transition
RT zone.";
RL PLoS Biol. 14:E1002416-E1002416(2016).
CC -!- FUNCTION: May be involved in ciliary biogenesis or function.
CC {ECO:0000305|PubMed:25161209}.
CC -!- SUBUNIT: Interacts with TMEM67. {ECO:0000250|UniProtKB:A2RU14}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000269|PubMed:26982032}. Note=Localizes at the transition zone, a
CC region between the basal body and the ciliary axoneme.
CC {ECO:0000269|PubMed:26982032}.
CC -!- DISRUPTION PHENOTYPE: Diffuse renal cyst development with
CC tubulointerstitial nephropathy and disruption of tubular basement
CC membranes in essentially normal-sized kidneys. Retinal lesions
CC characterized by slow-onset loss of photoreceptors.
CC {ECO:0000269|PubMed:25161209}.
CC -!- SIMILARITY: Belongs to the TMEM218 family. {ECO:0000305}.
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DR EMBL; AK003010; BAB22510.1; -; mRNA.
DR EMBL; AK007575; BAC25179.1; -; mRNA.
DR EMBL; AK008902; BAB25961.1; -; mRNA.
DR EMBL; AK161115; BAE36199.1; -; mRNA.
DR EMBL; BC034160; AAH34160.1; -; mRNA.
DR CCDS; CCDS22975.1; -.
DR RefSeq; NP_001297025.1; NM_001310096.1.
DR RefSeq; NP_079740.1; NM_025464.3.
DR RefSeq; XP_006510609.1; XM_006510546.3.
DR AlphaFoldDB; Q9CQ44; -.
DR SMR; Q9CQ44; -.
DR IntAct; Q9CQ44; 1.
DR STRING; 10090.ENSMUSP00000034632; -.
DR PaxDb; Q9CQ44; -.
DR PRIDE; Q9CQ44; -.
DR Antibodypedia; 50074; 8 antibodies from 7 providers.
DR DNASU; 66279; -.
DR Ensembl; ENSMUST00000034632; ENSMUSP00000034632; ENSMUSG00000032121.
DR GeneID; 66279; -.
DR KEGG; mmu:66279; -.
DR UCSC; uc009ouj.1; mouse.
DR CTD; 219854; -.
DR MGI; MGI:1913529; Tmem218.
DR VEuPathDB; HostDB:ENSMUSG00000032121; -.
DR eggNOG; ENOG502S2I1; Eukaryota.
DR GeneTree; ENSGT00390000016247; -.
DR HOGENOM; CLU_169774_0_0_1; -.
DR InParanoid; Q9CQ44; -.
DR OMA; PATEMKI; -.
DR OrthoDB; 1590037at2759; -.
DR PhylomeDB; Q9CQ44; -.
DR TreeFam; TF328597; -.
DR BioGRID-ORCS; 66279; 1 hit in 74 CRISPR screens.
DR ChiTaRS; Tmem218; mouse.
DR PRO; PR:Q9CQ44; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q9CQ44; protein.
DR Bgee; ENSMUSG00000032121; Expressed in interventricular septum and 241 other tissues.
DR Genevisible; Q9CQ44; MM.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026771; Tmem218.
DR PANTHER; PTHR31622; PTHR31622; 1.
PE 3: Inferred from homology;
KW Cell projection; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..115
FT /note="Transmembrane protein 218"
FT /id="PRO_0000321837"
FT TRANSMEM 5..25
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 38..58
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 81..101
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CONFLICT 4
FT /note="M -> I (in Ref. 2; BAC25179)"
FT /evidence="ECO:0000305"
FT CONFLICT 6
FT /note="L -> I (in Ref. 2; BAC25179)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 115 AA; 12464 MW; C9165E64EBDE3AB9 CRC64;
MAGMVLGVGA GVFLLALIWV LVLLLCVLLS RASGIARFSI VFVFLGALII TTVLLLFPRA
SEFPAPEGEM KIVDAFFIGR YVLLAFLSAV FLGGLFLLLT HHLLEPIYAK PLRSC
