TM237_HUMAN
ID TM237_HUMAN Reviewed; 408 AA.
AC Q96Q45; B4E1R8; B4E2R8; E9PAR8; E9PBF8; E9PG24; E9PGX0; Q53TS9; Q53TT2;
AC Q7Z3B6; Q8IZ18; Q8NBF8; Q96CY1;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 22-FEB-2012, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Transmembrane protein 237;
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein;
GN Name=TMEM237; Synonyms=ALS2CR4;
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 [MRNA] (ISOFORM 3).
RX PubMed=11586298; DOI=10.1038/ng1001-166;
RA Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S.,
RA Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A.,
RA Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr.,
RA Scherer S.W., Rouleau G.A., Hayden M.R., Ikeda J.-E.;
RT "A gene encoding a putative GTPase regulator is mutated in familial
RT amyotrophic lateral sclerosis 2.";
RL Nat. Genet. 29:166-173(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 4 AND 5).
RC TISSUE=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 [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 MRNA] (ISOFORM 2).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 272-408.
RC TISSUE=Fetal skin;
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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25 AND SER-49, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX, AND INTERACTION WITH TMEM107.
RX PubMed=26595381; DOI=10.1038/ncb3273;
RA Lambacher N.J., Bruel A.L., van Dam T.J., Szymanska K., Slaats G.G.,
RA Kuhns S., McManus G.J., Kennedy J.E., Gaff K., Wu K.M., van der Lee R.,
RA Burglen L., Doummar D., Riviere J.B., Faivre L., Attie-Bitach T.,
RA Saunier S., Curd A., Peckham M., Giles R.H., Johnson C.A., Huynen M.A.,
RA Thauvin-Robinet C., Blacque O.E.;
RT "TMEM107 recruits ciliopathy proteins to subdomains of the ciliary
RT transition zone and causes Joubert syndrome.";
RL Nat. Cell Biol. 18:122-131(2016).
RN [8]
RP INVOLVEMENT IN JBTS14, SUBCELLULAR LOCATION, FUNCTION, VARIANT ALA-155, AND
RP CHARACTERIZATION OF VARIANT ALA-155.
RX PubMed=22152675; DOI=10.1016/j.ajhg.2011.11.005;
RA Huang L., Szymanska K., Jensen V.L., Janecke A.R., Innes A.M., Davis E.E.,
RA Frosk P., Li C., Willer J.R., Chodirker B.N., Greenberg C.R., McLeod D.R.,
RA Bernier F.P., Chudley A.E., Muller T., Shboul M., Logan C.V., Loucks C.M.,
RA Beaulieu C.L., Bowie R.V., Bell S.M., Adkins J., Zuniga F.I., Ross K.D.,
RA Wang J., Ban M.R., Becker C., Nurnberg P., Douglas S., Craft C.M.,
RA Akimenko M.A., Hegele R.A., Ober C., Utermann G., Bolz H.J., Bulman D.E.,
RA Katsanis N., Blacque O.E., Doherty D., Parboosingh J.S., Leroux M.R.,
RA Johnson C.A., Boycott K.M.;
RT "TMEM237 is mutated in individuals with a Joubert syndrome related disorder
RT and expands the role of the TMEM family at the ciliary transition zone.";
RL Am. J. Hum. Genet. 89:713-730(2011).
CC -!- FUNCTION: Component of the transition zone in primary cilia. Required
CC for ciliogenesis. {ECO:0000269|PubMed:22152675}.
CC -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex).
CC Interacts with TMEM107. {ECO:0000269|PubMed:26595381}.
CC -!- INTERACTION:
CC Q96Q45-2; O95870: ABHD16A; NbExp=5; IntAct=EBI-10982110, EBI-348517;
CC Q96Q45-2; Q08AM2: ADAM33; NbExp=3; IntAct=EBI-10982110, EBI-10225815;
CC Q96Q45-2; Q15848: ADIPOQ; NbExp=3; IntAct=EBI-10982110, EBI-10827839;
CC Q96Q45-2; P05090: APOD; NbExp=5; IntAct=EBI-10982110, EBI-715495;
CC Q96Q45-2; O95236-2: APOL3; NbExp=3; IntAct=EBI-10982110, EBI-11976321;
CC Q96Q45-2; P29972: AQP1; NbExp=3; IntAct=EBI-10982110, EBI-745213;
CC Q96Q45-2; Q9HD20-3: ATP13A1; NbExp=3; IntAct=EBI-10982110, EBI-12069500;
CC Q96Q45-2; O15155: BET1; NbExp=3; IntAct=EBI-10982110, EBI-749204;
CC Q96Q45-2; P62952: BLCAP; NbExp=3; IntAct=EBI-10982110, EBI-3895726;
CC Q96Q45-2; Q12982: BNIP2; NbExp=3; IntAct=EBI-10982110, EBI-752094;
CC Q96Q45-2; Q8WVV5: BTN2A2; NbExp=5; IntAct=EBI-10982110, EBI-8648738;
CC Q96Q45-2; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-10982110, EBI-12003442;
CC Q96Q45-2; P27352: CBLIF; NbExp=3; IntAct=EBI-10982110, EBI-3953638;
CC Q96Q45-2; Q9P0B6: CCDC167; NbExp=3; IntAct=EBI-10982110, EBI-9083477;
CC Q96Q45-2; P19397: CD53; NbExp=3; IntAct=EBI-10982110, EBI-6657396;
CC Q96Q45-2; Q92903: CDS1; NbExp=3; IntAct=EBI-10982110, EBI-13295305;
CC Q96Q45-2; Q9BXR6: CFHR5; NbExp=3; IntAct=EBI-10982110, EBI-11579371;
CC Q96Q45-2; O14493: CLDN4; NbExp=3; IntAct=EBI-10982110, EBI-9316372;
CC Q96Q45-2; Q9NWW5: CLN6; NbExp=3; IntAct=EBI-10982110, EBI-6165897;
CC Q96Q45-2; Q8TBE1: CNIH3; NbExp=3; IntAct=EBI-10982110, EBI-12208021;
CC Q96Q45-2; Q07325: CXCL9; NbExp=5; IntAct=EBI-10982110, EBI-3911467;
CC Q96Q45-2; O43169: CYB5B; NbExp=3; IntAct=EBI-10982110, EBI-1058710;
CC Q96Q45-2; P52803: EFNA5; NbExp=3; IntAct=EBI-10982110, EBI-1753674;
CC Q96Q45-2; Q9BV81: EMC6; NbExp=3; IntAct=EBI-10982110, EBI-2820492;
CC Q96Q45-2; Q7Z2K6: ERMP1; NbExp=5; IntAct=EBI-10982110, EBI-10976398;
CC Q96Q45-2; Q92935: EXTL1; NbExp=3; IntAct=EBI-10982110, EBI-1760167;
CC Q96Q45-2; Q9NWM8: FKBP14; NbExp=3; IntAct=EBI-10982110, EBI-2477093;
CC Q96Q45-2; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-10982110, EBI-713304;
CC Q96Q45-2; O75084: FZD7; NbExp=3; IntAct=EBI-10982110, EBI-746917;
CC Q96Q45-2; P29033: GJB2; NbExp=3; IntAct=EBI-10982110, EBI-3905204;
CC Q96Q45-2; Q86XP6: GKN2; NbExp=3; IntAct=EBI-10982110, EBI-13380976;
CC Q96Q45-2; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-10982110, EBI-13345167;
CC Q96Q45-2; O00155: GPR25; NbExp=3; IntAct=EBI-10982110, EBI-10178951;
CC Q96Q45-2; O15529: GPR42; NbExp=3; IntAct=EBI-10982110, EBI-18076404;
CC Q96Q45-2; Q14416: GRM2; NbExp=3; IntAct=EBI-10982110, EBI-10232876;
CC Q96Q45-2; Q02747: GUCA2A; NbExp=3; IntAct=EBI-10982110, EBI-12244272;
CC Q96Q45-2; P02724: GYPA; NbExp=3; IntAct=EBI-10982110, EBI-702665;
CC Q96Q45-2; Q9Y5U9: IER3IP1; NbExp=5; IntAct=EBI-10982110, EBI-725665;
CC Q96Q45-2; P15260: IFNGR1; NbExp=3; IntAct=EBI-10982110, EBI-1030755;
CC Q96Q45-2; P24593: IGFBP5; NbExp=5; IntAct=EBI-10982110, EBI-720480;
CC Q96Q45-2; O15503: INSIG1; NbExp=3; IntAct=EBI-10982110, EBI-6252425;
CC Q96Q45-2; Q9Y5U4: INSIG2; NbExp=4; IntAct=EBI-10982110, EBI-8503746;
CC Q96Q45-2; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-10982110, EBI-10266796;
CC Q96Q45-2; O43561-2: LAT; NbExp=3; IntAct=EBI-10982110, EBI-8070286;
CC Q96Q45-2; O95214: LEPROTL1; NbExp=3; IntAct=EBI-10982110, EBI-750776;
CC Q96Q45-2; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-10982110, EBI-12033434;
CC Q96Q45-2; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-10982110, EBI-2830349;
CC Q96Q45-2; P01374: LTA; NbExp=3; IntAct=EBI-10982110, EBI-524105;
CC Q96Q45-2; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-10982110, EBI-11956541;
CC Q96Q45-2; Q6N075: MFSD5; NbExp=3; IntAct=EBI-10982110, EBI-3920969;
CC Q96Q45-2; Q6ZSS7: MFSD6; NbExp=3; IntAct=EBI-10982110, EBI-2858252;
CC Q96Q45-2; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-10982110, EBI-12070086;
CC Q96Q45-2; P41143: OPRD1; NbExp=3; IntAct=EBI-10982110, EBI-2624456;
CC Q96Q45-2; Q8N138: ORMDL3; NbExp=3; IntAct=EBI-10982110, EBI-721750;
CC Q96Q45-2; Q7RTS6: OTOP2; NbExp=3; IntAct=EBI-10982110, EBI-7642372;
CC Q96Q45-2; Q7RTS5: OTOP3; NbExp=3; IntAct=EBI-10982110, EBI-12853910;
CC Q96Q45-2; Q96GM1: PLPPR2; NbExp=3; IntAct=EBI-10982110, EBI-12955265;
CC Q96Q45-2; P54315: PNLIPRP1; NbExp=5; IntAct=EBI-10982110, EBI-8652812;
CC Q96Q45-2; Q8WZA1: POMGNT1; NbExp=3; IntAct=EBI-10982110, EBI-3912424;
CC Q96Q45-2; Q59EV6: PPGB; NbExp=5; IntAct=EBI-10982110, EBI-14210385;
CC Q96Q45-2; A5D903: PRB1; NbExp=3; IntAct=EBI-10982110, EBI-10173935;
CC Q96Q45-2; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-10982110, EBI-10192441;
CC Q96Q45-2; Q02161-2: RHD; NbExp=3; IntAct=EBI-10982110, EBI-17249212;
CC Q96Q45-2; Q9HCK4: ROBO2; NbExp=5; IntAct=EBI-10982110, EBI-399800;
CC Q96Q45-2; Q9NS64: RPRM; NbExp=3; IntAct=EBI-10982110, EBI-1052363;
CC Q96Q45-2; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-10982110, EBI-8636004;
CC Q96Q45-2; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-10982110, EBI-8652744;
CC Q96Q45-2; Q8N6R1: SERP2; NbExp=3; IntAct=EBI-10982110, EBI-749270;
CC Q96Q45-2; P05121: SERPINE1; NbExp=3; IntAct=EBI-10982110, EBI-953978;
CC Q96Q45-2; Q8TD22: SFXN5; NbExp=3; IntAct=EBI-10982110, EBI-17274136;
CC Q96Q45-2; Q9Y666-2: SLC12A7; NbExp=3; IntAct=EBI-10982110, EBI-12854384;
CC Q96Q45-2; O15374-3: SLC16A4; NbExp=3; IntAct=EBI-10982110, EBI-12889748;
CC Q96Q45-2; P22732: SLC2A5; NbExp=3; IntAct=EBI-10982110, EBI-2825135;
CC Q96Q45-2; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-10982110, EBI-10262251;
CC Q96Q45-2; Q96G79: SLC35A4; NbExp=5; IntAct=EBI-10982110, EBI-12363689;
CC Q96Q45-2; Q8TB61: SLC35B2; NbExp=3; IntAct=EBI-10982110, EBI-1054782;
CC Q96Q45-2; Q969S0: SLC35B4; NbExp=3; IntAct=EBI-10982110, EBI-10281213;
CC Q96Q45-2; Q6ICL7: SLC35E4; NbExp=3; IntAct=EBI-10982110, EBI-12867720;
CC Q96Q45-2; Q2M3R5: SLC35G1; NbExp=3; IntAct=EBI-10982110, EBI-13311257;
CC Q96Q45-2; Q96QD8: SLC38A2; NbExp=3; IntAct=EBI-10982110, EBI-723083;
CC Q96Q45-2; Q9NVC3: SLC38A7; NbExp=5; IntAct=EBI-10982110, EBI-10314552;
CC Q96Q45-2; Q9NP94: SLC39A2; NbExp=3; IntAct=EBI-10982110, EBI-12898013;
CC Q96Q45-2; Q9NUM3: SLC39A9; NbExp=3; IntAct=EBI-10982110, EBI-2823239;
CC Q96Q45-2; Q8IVJ1: SLC41A1; NbExp=5; IntAct=EBI-10982110, EBI-12266234;
CC Q96Q45-2; Q96JW4: SLC41A2; NbExp=3; IntAct=EBI-10982110, EBI-10290130;
CC Q96Q45-2; Q9NWF4: SLC52A1; NbExp=3; IntAct=EBI-10982110, EBI-12904614;
CC Q96Q45-2; Q9NY91: SLC5A4; NbExp=3; IntAct=EBI-10982110, EBI-12409133;
CC Q96Q45-2; P30825: SLC7A1; NbExp=3; IntAct=EBI-10982110, EBI-4289564;
CC Q96Q45-2; Q8WY07: SLC7A3; NbExp=3; IntAct=EBI-10982110, EBI-13066314;
CC Q96Q45-2; Q96JF0-2: ST6GAL2; NbExp=3; IntAct=EBI-10982110, EBI-12908338;
CC Q96Q45-2; P0DN84: STRIT1; NbExp=3; IntAct=EBI-10982110, EBI-12200293;
CC Q96Q45-2; Q9UNK0: STX8; NbExp=3; IntAct=EBI-10982110, EBI-727240;
CC Q96Q45-2; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-10982110, EBI-12947623;
CC Q96Q45-2; Q96DZ7: TM4SF19; NbExp=3; IntAct=EBI-10982110, EBI-6448756;
CC Q96Q45-2; Q9BZW4: TM6SF2; NbExp=3; IntAct=EBI-10982110, EBI-13082040;
CC Q96Q45-2; Q9UIK5: TMEFF2; NbExp=3; IntAct=EBI-10982110, EBI-11423693;
CC Q96Q45-2; Q6UX40: TMEM107; NbExp=3; IntAct=EBI-10982110, EBI-12845616;
CC Q96Q45-2; P17152: TMEM11; NbExp=3; IntAct=EBI-10982110, EBI-723946;
CC Q96Q45-2; Q5BJH2-2: TMEM128; NbExp=3; IntAct=EBI-10982110, EBI-10694905;
CC Q96Q45-2; Q7Z5S9: TMEM144; NbExp=3; IntAct=EBI-10982110, EBI-12876358;
CC Q96Q45-2; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-10982110, EBI-348587;
CC Q96Q45-2; Q7Z7N9: TMEM179B; NbExp=3; IntAct=EBI-10982110, EBI-11724423;
CC Q96Q45-2; Q5SNT2-2: TMEM201; NbExp=3; IntAct=EBI-10982110, EBI-11994282;
CC Q96Q45-2; Q8TBM7: TMEM254; NbExp=3; IntAct=EBI-10982110, EBI-11956809;
CC Q96Q45-2; Q69YG0: TMEM42; NbExp=3; IntAct=EBI-10982110, EBI-12038591;
CC Q96Q45-2; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-10982110, EBI-2852148;
CC Q96Q45-2; A0PK05: TMEM72; NbExp=3; IntAct=EBI-10982110, EBI-12878352;
CC Q96Q45-2; Q8N661: TMEM86B; NbExp=5; IntAct=EBI-10982110, EBI-2548832;
CC Q96Q45-2; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-10982110, EBI-10243654;
CC Q96Q45-2; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-10982110, EBI-11988865;
CC Q96Q45-2; Q86WB7-2: UNC93A; NbExp=6; IntAct=EBI-10982110, EBI-13356252;
CC Q96Q45-2; Q9H1C4: UNC93B1; NbExp=3; IntAct=EBI-10982110, EBI-4401271;
CC Q96Q45-2; O75841: UPK1B; NbExp=3; IntAct=EBI-10982110, EBI-12237619;
CC Q96Q45-2; Q15836: VAMP3; NbExp=3; IntAct=EBI-10982110, EBI-722343;
CC Q96Q45-2; P15692-12: VEGFA; NbExp=3; IntAct=EBI-10982110, EBI-6622053;
CC Q96Q45-2; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-10982110, EBI-751210;
CC Q96Q45-2; O95159: ZFPL1; NbExp=3; IntAct=EBI-10982110, EBI-718439;
CC Q96Q45-2; Q96FB2; NbExp=3; IntAct=EBI-10982110, EBI-2857623;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000269|PubMed:22152675}. Note=Localizes at the proximal region of
CC primary cilia were observed, consistent with localization to the
CC transition zone. Anchored to the transition zone by RPGRIP1L.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q96Q45-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96Q45-2; Sequence=VSP_016628;
CC Name=3;
CC IsoId=Q96Q45-3; Sequence=VSP_042381;
CC Name=4;
CC IsoId=Q96Q45-4; Sequence=VSP_042382;
CC Name=5;
CC IsoId=Q96Q45-5; Sequence=VSP_042383;
CC -!- DISEASE: Joubert syndrome 14 (JBTS14) [MIM:614424]: An autosomal
CC recessive disorder characterized by severe intellectual disability,
CC hypotonia, breathing abnormalities in infancy, and dysmorphic facial
CC features. Neuroradiologically, it is characterized by cerebellar
CC vermian hypoplasia/aplasia, thickened and reoriented superior
CC cerebellar peduncles, and an abnormally large interpeduncular fossa,
CC giving the appearance of a molar tooth on transaxial slices (molar
CC tooth sign). Additional variable features include renal disease,
CC abnormal eye movements, and postaxial polydactyly.
CC {ECO:0000269|PubMed:22152675}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM237 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAY14694.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=AAY15056.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB053301; BAB69011.1; -; mRNA.
DR EMBL; AK090601; BAC03487.1; -; mRNA.
DR EMBL; AK303954; BAG64880.1; -; mRNA.
DR EMBL; AK304395; BAG65230.1; -; mRNA.
DR EMBL; AC007279; AAY15056.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC007282; AAY14694.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC013730; AAH13730.1; -; mRNA.
DR EMBL; BC029611; AAH29611.1; -; mRNA.
DR EMBL; BX538000; CAD97955.1; -; mRNA.
DR CCDS; CCDS46489.1; -. [Q96Q45-1]
DR CCDS; CCDS46490.1; -. [Q96Q45-2]
DR RefSeq; NP_001037850.1; NM_001044385.2. [Q96Q45-1]
DR RefSeq; NP_689601.2; NM_152388.3. [Q96Q45-2]
DR AlphaFoldDB; Q96Q45; -.
DR BioGRID; 122382; 195.
DR DIP; DIP-56376N; -.
DR IntAct; Q96Q45; 170.
DR MINT; Q96Q45; -.
DR STRING; 9606.ENSP00000386264; -.
DR MoonDB; Q96Q45; Predicted.
DR TCDB; 8.A.121.1.1; the transmembrane protein 237 (tmem237) family.
DR iPTMnet; Q96Q45; -.
DR PhosphoSitePlus; Q96Q45; -.
DR BioMuta; TMEM237; -.
DR DMDM; 378405209; -.
DR EPD; Q96Q45; -.
DR jPOST; Q96Q45; -.
DR MassIVE; Q96Q45; -.
DR MaxQB; Q96Q45; -.
DR PaxDb; Q96Q45; -.
DR PeptideAtlas; Q96Q45; -.
DR PRIDE; Q96Q45; -.
DR ProteomicsDB; 77826; -. [Q96Q45-1]
DR ProteomicsDB; 77827; -. [Q96Q45-2]
DR ProteomicsDB; 77828; -. [Q96Q45-3]
DR ProteomicsDB; 77829; -. [Q96Q45-4]
DR ProteomicsDB; 77830; -. [Q96Q45-5]
DR Antibodypedia; 47646; 103 antibodies from 22 providers.
DR DNASU; 65062; -.
DR Ensembl; ENST00000409444.6; ENSP00000387203.2; ENSG00000155755.20. [Q96Q45-2]
DR Ensembl; ENST00000409883.7; ENSP00000386264.2; ENSG00000155755.20. [Q96Q45-1]
DR GeneID; 65062; -.
DR KEGG; hsa:65062; -.
DR MANE-Select; ENST00000409883.7; ENSP00000386264.2; NM_001044385.3; NP_001037850.1.
DR UCSC; uc061rkx.1; human. [Q96Q45-1]
DR CTD; 65062; -.
DR DisGeNET; 65062; -.
DR GeneCards; TMEM237; -.
DR GeneReviews; TMEM237; -.
DR HGNC; HGNC:14432; TMEM237.
DR HPA; ENSG00000155755; Tissue enriched (retina).
DR MalaCards; TMEM237; -.
DR MIM; 614423; gene.
DR MIM; 614424; phenotype.
DR neXtProt; NX_Q96Q45; -.
DR OpenTargets; ENSG00000155755; -.
DR Orphanet; 475; Joubert syndrome.
DR Orphanet; 2318; Joubert syndrome with oculorenal defect.
DR Orphanet; 220497; Joubert syndrome with renal defect.
DR Orphanet; 564; Meckel syndrome.
DR PharmGKB; PA24745; -.
DR VEuPathDB; HostDB:ENSG00000155755; -.
DR eggNOG; ENOG502QTW0; Eukaryota.
DR GeneTree; ENSGT00390000005159; -.
DR InParanoid; Q96Q45; -.
DR OMA; THCACAR; -.
DR OrthoDB; 1428687at2759; -.
DR PhylomeDB; Q96Q45; -.
DR TreeFam; TF329703; -.
DR PathwayCommons; Q96Q45; -.
DR SignaLink; Q96Q45; -.
DR BioGRID-ORCS; 65062; 8 hits in 1086 CRISPR screens.
DR ChiTaRS; TMEM237; human.
DR GenomeRNAi; 65062; -.
DR Pharos; Q96Q45; Tdark.
DR PRO; PR:Q96Q45; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96Q45; protein.
DR Bgee; ENSG00000155755; Expressed in calcaneal tendon and 169 other tissues.
DR ExpressionAtlas; Q96Q45; baseline and differential.
DR Genevisible; Q96Q45; HS.
DR GO; GO:0035869; C:ciliary transition zone; IDA:UniProtKB.
DR GO; GO:0120199; C:cone photoreceptor outer segment; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IEA:Ensembl.
DR GO; GO:0120200; C:rod photoreceptor outer segment; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0030111; P:regulation of Wnt signaling pathway; IMP:UniProtKB.
DR InterPro; IPR029409; TMEM237.
DR PANTHER; PTHR28388; PTHR28388; 1.
DR Pfam; PF15383; TMEM237; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Joubert syndrome; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..408
FT /note="Transmembrane protein 237"
FT /id="PRO_0000076169"
FT TRANSMEM 227..247
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 268..288
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 303..323
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 358..378
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..137
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..15
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 64..90
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 91..111
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 121..135
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 25
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 49
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..14
FT /note="MRTDSGARLEEGHL -> MGKNPV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_016628"
FT VAR_SEQ 1..14
FT /note="MRTDSGARLEEGHL -> MTHCACARDRAREGWGARCLGARRPPRPAKRRMG
FT KNPV (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11586298"
FT /id="VSP_042381"
FT VAR_SEQ 36..130
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042382"
FT VAR_SEQ 132
FT /note="K -> KRPYYR (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042383"
FT VARIANT 155
FT /note="D -> A (found at heterozygosity in a patient with
FT Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in
FT MKKS; hypomorphic variant)"
FT /evidence="ECO:0000269|PubMed:22152675"
FT /id="VAR_067019"
FT CONFLICT 20
FT /note="L -> I (in Ref. 4; AAH29611)"
FT /evidence="ECO:0000305"
FT CONFLICT 118
FT /note="P -> Q (in Ref. 4; AAH29611)"
FT /evidence="ECO:0000305"
FT CONFLICT 158
FT /note="T -> A (in Ref. 2; BAG64880)"
FT /evidence="ECO:0000305"
FT CONFLICT 215
FT /note="R -> I (in Ref. 4; AAH29611)"
FT /evidence="ECO:0000305"
FT CONFLICT 261
FT /note="L -> I (in Ref. 4; AAH29611)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 408 AA; 45526 MW; 5FF78A331490D190 CRC64;
MRTDSGARLE EGHLRPPRAL PPVPSQDDIP LSRPKKKKPR TKNTPASASL EGLAQTAGRR
PSEGNEPSTK ELKEHPEAPV QRRQKKTRLP LELETSSTQK KSSSSSLLRN ENGIDAEPAE
EAVIQKPRRK TKKTQPAELQ YANELGVEDE DIITDEQTTV EQQSVFTAPT GISQPVGKVF
VEKSRRFQAA DRSELIKTTE NIDVSMDVKP SWTTRDVALT VHRAFRMIGL FSHGFLAGCA
VWNIVVIYVL AGDQLSNLSN LLQQYKTLAY PFQSLLYLLL ALSTISAFDR IDFAKISVAI
RNFLALDPTA LASFLYFTAL ILSLSQQMTS DRIHLYTPSS VNGSLWEAGI EEQILQPWIV
VNLVVALLVG LSWLFLSYRP GMDLSEELMF SSEVEEYPDK EKEIKASS
