TSEAR_MOUSE
ID TSEAR_MOUSE Reviewed; 670 AA.
AC J3S6Y1; Q8BUQ8; Q8K4Y9;
DT 09-JAN-2013, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2012, sequence version 1.
DT 03-AUG-2022, entry version 59.
DE RecName: Full=Thrombospondin-type laminin G domain and EAR repeat-containing protein {ECO:0000312|EMBL:AFH76477.1};
DE Short=TSP-EAR {ECO:0000250|UniProtKB:Q8WU66};
DE Flags: Precursor;
GN Name=Tspear {ECO:0000312|EMBL:AFH76477.1};
GN Synonyms=Tnep1 {ECO:0000312|EMBL:CAD31788.1};
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] {ECO:0000305, ECO:0000312|EMBL:AFH76477.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:AFH76477.1};
RC TISSUE=Cochlea {ECO:0000312|EMBL:AFH76477.1};
RX PubMed=22678063; DOI=10.1093/hmg/dds212;
RA Delmaghani S., Aghaie A., Michalski N., Bonnet C., Weil D., Petit C.;
RT "Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR
RT causes DFNB98 profound deafness.";
RL Hum. Mol. Genet. 21:3835-3844(2012).
RN [2] {ECO:0000305, ECO:0000312|EMBL:BAC38661.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:BAC38661.1};
RC TISSUE=Embryonic stem cell {ECO:0000269|PubMed:16141072};
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4] {ECO:0000305, ECO:0000312|EMBL:CAD31788.1}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 30-670 (ISOFORM 2).
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:CAD31788.1};
RX PubMed=12217514; DOI=10.1016/s0968-0004(02)02163-1;
RA Staub E., Perez-Tur J., Siebert R., Nobile C., Moschonas N.K., Deloukas P.,
RA Hinzmann B.;
RT "The novel EPTP repeat defines a superfamily of proteins implicated in
RT epileptic disorders.";
RL Trends Biochem. Sci. 27:441-444(2002).
CC -!- FUNCTION: Plays a critical role in tooth and hair follicle
CC morphogenesis through regulation of the Notch signaling pathway. May
CC play a role in development or function of the auditory system.
CC {ECO:0000250|UniProtKB:Q8WU66}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:22678063}. Cell
CC surface {ECO:0000269|PubMed:22678063}. Cell projection, stereocilium
CC {ECO:0000269|PubMed:22678063}. Note=Secreted protein which may bind to
CC the cell surface via a membrane receptor.
CC {ECO:0000269|PubMed:22678063}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1 {ECO:0000269|PubMed:22678063};
CC IsoId=J3S6Y1-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:12217514};
CC IsoId=J3S6Y1-2; Sequence=VSP_044543, VSP_044544;
CC Name=3 {ECO:0000269|PubMed:16141072};
CC IsoId=J3S6Y1-3; Sequence=VSP_044542;
CC -!- TISSUE SPECIFICITY: In the organ of Corti, expression at postnatal day
CC 1 (P1) is restricted to the basal region of the stereocilia of inner
CC and outer hair cells (at protein level). Expressed in the organ of
CC Corti at P1 and P7, in cochlear ganglion, stria vascularis and
CC vestibular ends at P7, and in inferior colliculus, remaining brainstem,
CC cerebellum, brain hemispheres and retina at P1, P7 and in the adult.
CC Also detected in adult liver, lung, kidney, intestine and testis but
CC not in heart or skeletal muscle. {ECO:0000269|PubMed:22678063}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD31788.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; JQ815565; AFH76477.1; -; mRNA.
DR EMBL; AK082868; BAC38661.1; -; mRNA.
DR EMBL; AC153874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ487520; CAD31788.1; ALT_INIT; mRNA.
DR CCDS; CCDS83718.1; -. [J3S6Y1-1]
DR RefSeq; NP_001274003.1; NM_001287074.1. [J3S6Y1-1]
DR AlphaFoldDB; J3S6Y1; -.
DR SMR; J3S6Y1; -.
DR STRING; 10090.ENSMUSP00000090022; -.
DR GlyGen; J3S6Y1; 1 site.
DR PhosphoSitePlus; J3S6Y1; -.
DR PaxDb; J3S6Y1; -.
DR PRIDE; J3S6Y1; -.
DR Antibodypedia; 53321; 96 antibodies from 14 providers.
DR DNASU; 252974; -.
DR Ensembl; ENSMUST00000092366; ENSMUSP00000090020; ENSMUSG00000069581. [J3S6Y1-1]
DR GeneID; 252974; -.
DR KEGG; mmu:252974; -.
DR UCSC; uc007fwg.2; mouse. [J3S6Y1-1]
DR CTD; 54084; -.
DR MGI; MGI:2671932; Tspear.
DR VEuPathDB; HostDB:ENSMUSG00000069581; -.
DR eggNOG; KOG3544; Eukaryota.
DR GeneTree; ENSGT00510000047718; -.
DR HOGENOM; CLU_028578_0_0_1; -.
DR InParanoid; J3S6Y1; -.
DR OMA; EIPTCSA; -.
DR OrthoDB; 258208at2759; -.
DR BioGRID-ORCS; 252974; 3 hits in 53 CRISPR screens.
DR ChiTaRS; Tspear; mouse.
DR PRO; PR:J3S6Y1; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; J3S6Y1; protein.
DR Bgee; ENSMUSG00000069581; Expressed in mesonephros and 45 other tissues.
DR GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR GO; GO:0060170; C:ciliary membrane; IDA:MGI.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0032420; C:stereocilium; IDA:UniProtKB.
DR GO; GO:0022405; P:hair cycle process; IMP:MGI.
DR GO; GO:0007219; P:Notch signaling pathway; IMP:MGI.
DR GO; GO:0008593; P:regulation of Notch signaling pathway; ISS:UniProtKB.
DR GO; GO:0007605; P:sensory perception of sound; ISS:UniProtKB.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR GO; GO:0034505; P:tooth mineralization; ISS:UniProtKB.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR009039; EAR.
DR InterPro; IPR005492; EPTP.
DR InterPro; IPR001791; Laminin_G.
DR Pfam; PF03736; EPTP; 5.
DR SMART; SM00210; TSPN; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50912; EAR; 7.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Glycoprotein; Hearing;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..670
FT /note="Thrombospondin-type laminin G domain and EAR repeat-
FT containing protein"
FT /evidence="ECO:0000255"
FT /id="PRO_0000420603"
FT DOMAIN 59..278
FT /note="Laminin G-like"
FT /evidence="ECO:0000255"
FT REPEAT 314..359
FT /note="EAR 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 361..409
FT /note="EAR 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 413..461
FT /note="EAR 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 465..513
FT /note="EAR 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 515..571
FT /note="EAR 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 575..623
FT /note="EAR 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 626..669
FT /note="EAR 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT CARBOHYD 498
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..153
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_044542"
FT VAR_SEQ 586..597
FT /note="SALDWEFFSVGE -> RYQPGGCKGRVS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12217514"
FT /id="VSP_044543"
FT VAR_SEQ 598..670
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12217514"
FT /id="VSP_044544"
FT CONFLICT 384
FT /note="Missing (in Ref. 4; CAD31788)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 670 AA; 75098 MW; A208282A466D049B CRC64;
MSALLMLCAV LLLLGTPSRG ARPWEPCTDL RPLDILAEVV PLNGATSGIR MVQVEGVRGL
QFSATEPRTT SFPASRIFSS CDFFPEEFSI IVTLRVPNLP PKKNEYLLSL LAEERDTLLL
GLRYSPTQLH FLFLSEDLAG AWQTRVSFWS PGLMDSRWHT LILAVSQGSF SLTTDCGLPV
DIMADVSFPP TLSVRGARFF IGSRKRTKGL FTGVIRQLVL LPGSDATPQL CPSRNARLAE
LSIPQVLKRL TGKPDDNEVL NYPYEADMKV TLGSRPPCTK AEGAQFWFDA AQKGLYLCAG
SEWVSVLAAK TKLDYVEEHQ SLHTNSETLG IEVFSIPGVG LFAAAANRKA RSAIYKWTDG
KFVSYQNIAT HQAQSWRHFT IGKKIFLAVA NFGPNERGQE FSVIYKWSPR KLKFTLYQRI
ATHSARDWEA FEVDGEHFLV VANHREGDNH NIDSMVYRWN PSSQLFEANQ SIATSGAYDW
EFFTVGPYSF LVVANTFNGT STQVHSHLYI WLVGAFQLFQ SFLTFGAADW EVFHIGERIF
LAVANSHSYD VQMQAQNDSY VLSSVIYELN ITAQTFVKFQ DIPTCSALDW EFFSVGEDHF
LVVANSFDGN TFSVNSIIYR WQGYEGFVAV HKLPTFGCRD WEAFNTTAGS YLIYSSAKEP
LSRVLKLRTG
