LOCUS       NM_001287074            2446 bp    mRNA    linear   ROD 01-AUG-2024
DEFINITION  Mus musculus thrombospondin type laminin G domain and EAR repeats
            (Tspear), mRNA.
ACCESSION   NM_001287074 XM_003084866 XM_003085701
VERSION     NM_001287074.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2446)
  AUTHORS   Jackson,A., Lin,S.J., Jones,E.A., Chandler,K.E., Orr,D., Moss,C.,
            Haider,Z., Ryan,G., Holden,S., Harrison,M., Burrows,N., Jones,W.D.,
            Loveless,M., Petree,C., Stewart,H., Low,K., Donnelly,D., Lovell,S.,
            Drosou,K., Varshney,G.K. and Banka,S.
  CONSRTM   Genomics England Research Consortium; Solve-RD consortium
  TITLE     Clinical, genetic, epidemiologic, evolutionary, and functional
            delineation of TSPEAR-related autosomal recessive ectodermal
            dysplasia 14
  JOURNAL   HGG Adv 4 (2), 100186 (2023)
   PUBMED   37009414
  REMARK    GeneRIF: Clinical, genetic, epidemiologic, evolutionary, and
            functional delineation of TSPEAR-related autosomal recessive
            ectodermal dysplasia 14.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2446)
  AUTHORS   Peled,A., Sarig,O., Samuelov,L., Bertolini,M., Ziv,L.,
            Weissglas-Volkov,D., Eskin-Schwartz,M., Adase,C.A., Malchin,N.,
            Bochner,R., Fainberg,G., Goldberg,I., Sugawara,K., Baniel,A.,
            Tsuruta,D., Luxenburg,C., Adir,N., Duverger,O., Morasso,M.,
            Shalev,S., Gallo,R.L., Shomron,N., Paus,R. and Sprecher,E.
  TITLE     Mutations in TSPEAR, Encoding a Regulator of Notch Signaling,
            Affect Tooth and Hair Follicle Morphogenesis
  JOURNAL   PLoS Genet 12 (10), e1006369 (2016)
   PUBMED   27736875
  REMARK    GeneRIF: using a luciferase-based reporter assay, we showed that
            TSPEAR knock-down is associated with decreased Notch signaling. In
            addition, NOTCH1 protein expression was reduced in patient scalp
            skin. Moreover, TSPEAR silencing in mouse hair follicle organ
            cultures was found to induce apoptosis in follicular epithelial
            cells, resulting in decreased hair bulb diameter
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2446)
  AUTHORS   Delmaghani,S., Aghaie,A., Michalski,N., Bonnet,C., Weil,D. and
            Petit,C.
  TITLE     Defect in the gene encoding the EAR/EPTP domain-containing protein
            TSPEAR causes DFNB98 profound deafness
  JOURNAL   Hum Mol Genet 21 (17), 3835-3844 (2012)
   PUBMED   22678063
  REMARK    GeneRIF: TSPEAR, cause disorders with auditory features: epilepsy,
            which can include auditory features in humans; audiogenic seizures
            in animals; and/or hearing impairments in humans and mice.
REFERENCE   4  (bases 1 to 2446)
  AUTHORS   Gitton,Y., Dahmane,N., Baik,S., Ruiz i Altaba,A., Neidhardt,L.,
            Scholze,M., Herrmann,B.G., Kahlem,P., Benkahla,A., Schrinner,S.,
            Yildirimman,R., Herwig,R., Lehrach,H. and Yaspo,M.L.
  CONSRTM   HSA21 expression map initiative
  TITLE     A gene expression map of human chromosome 21 orthologues in the
            mouse
  JOURNAL   Nature 420 (6915), 586-590 (2002)
   PUBMED   12466855
REFERENCE   5  (bases 1 to 2446)
  AUTHORS   Reymond,A., Marigo,V., Yaylaoglu,M.B., Leoni,A., Ucla,C.,
            Scamuffa,N., Caccioppoli,C., Dermitzakis,E.T., Lyle,R., Banfi,S.,
            Eichele,G., Antonarakis,S.E. and Ballabio,A.
  TITLE     Human chromosome 21 gene expression atlas in the mouse
  JOURNAL   Nature 420 (6915), 582-586 (2002)
   PUBMED   12466854
REFERENCE   6  (bases 1 to 2446)
  AUTHORS   Staub,E., Perez-Tur,J., Siebert,R., Nobile,C., Moschonas,N.K.,
            Deloukas,P. and Hinzmann,B.
  TITLE     The novel EPTP repeat defines a superfamily of proteins implicated
            in epileptic disorders
  JOURNAL   Trends Biochem Sci 27 (9), 441-444 (2002)
   PUBMED   12217514
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JQ815565.1.
            
            On or before Nov 26, 2013 this sequence version replaced
            XM_003084866.2, XM_003085701.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: JQ815565.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164133, SAMN01164137
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2446
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="10"
                     /map="10 39.72 cM"
     gene            1..2446
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /note="thrombospondin type laminin G domain and EAR
                     repeats"
                     /db_xref="GeneID:252974"
                     /db_xref="MGI:MGI:2671932"
     exon            1..329
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            330..550
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            551..789
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            790..880
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1037
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1169
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1396
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1583
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1584..1813
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..2001
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            2002..2103
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2446
                     /gene="Tspear"
                     /gene_synonym="C330046G03Rik; ORF65; Tnep1; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agagagataa gcccttgcct gcagctgacg cttcagtctg ccagggccac ccgccttttg
       61 ctactgcaga acagctaggg gctgtcatta ctgccaggac tacctctgtc ctcttgcaga
      121 tacaaacatg ggctcatcac agtgaccacc tggggtccag actgcccctc acagggaatt
      181 aagagtggct gcctctctgc aggcgtgtgg aacccctgga tggatcttgg gactcgagcc
      241 cctcatgtct gcgctgctga tgttgtgtgc ggtgctcttg cttctgggta ccccaagccg
      301 tggtgcccgg ccctgggagc cctgcacaga ccttcgtccc ctggacattc tggcagaggt
      361 ggtccctttg aatggagcta caagtgggat ccggatggtg caggtggagg gtgtgcgggg
      421 cctccagttc tcagccaccg aaccccgtac cacaagtttc cctgcctcta gaatcttctc
      481 cagctgcgat ttcttccctg aagaattctc catcatcgtc accttgagag ttcccaacct
      541 tccacccaag aagaatgaat acctgctctc cctgctggcg gaggagaggg acacgctact
      601 gctcggcctg aggtactcac ccacacagct gcacttcctg tttctcagcg aggacctggc
      661 tggtgcctgg cagacccgtg tgtccttctg gagccctggc ctcatggaca gccgatggca
      721 cactctgatc ctggctgtgt cccaaggatc cttttctctc accacggact gtggcctccc
      781 ggtggacata atggctgatg tttccttccc acccacccta tcagtaagag gagcccggtt
      841 cttcattggc agccggaaaa gaaccaaagg cctattcaca ggtgtgataa ggcaactggt
      901 tttgctgcct ggatcagatg ccaccccaca gctgtgtccc agcaggaacg ctaggctggc
      961 tgagctgtcc atcccccagg tgctgaagag gctcacaggg aagcctgatg ataatgaggt
     1021 gctaaattat ccctatgaag ctgacatgaa agtaaccctg ggatcccggc caccgtgtac
     1081 caaggcagag ggtgcccagt tctggttcga tgctgcccaa aaggggctat acctgtgtgc
     1141 tggcagcgaa tgggtctccg tgttggcagc caagaccaag ctggactacg ttgaagaaca
     1201 ccagagtctg cacaccaact cagagacact gggcatcgag gtgttcagca tccccggtgt
     1261 ggggctcttc gcagccgcag ccaaccggaa ggctagatca gccatctata aatggacaga
     1321 tgggaaattt gtctcctatc agaacattgc tacgcaccag gcacagtcat ggcgacattt
     1381 caccattggg aaaaagatct tcctggctgt ggccaacttt gggccaaatg aaaggggtca
     1441 agagttctcc gtcatctaca aatggagccc cagaaagctg aagttcaccc tctaccagag
     1501 gattgccacc cacagcgccc gtgactggga ggcctttgag gtggacggag agcacttcct
     1561 ggtggtagcc aaccaccgag aaggggacaa ccacaacatc gacagcatgg tctacaggtg
     1621 gaaccccagc agccagctct ttgaagccaa tcagtccatt gccacgtcgg gtgcctacga
     1681 ctgggagttc ttcaccgtgg ggccttactc cttcctggtg gtggccaaca ccttcaatgg
     1741 cacttccacc caggtgcatt cccacctgta catctggctg gtcggggctt tccagctctt
     1801 ccagtcgttc ctgacattcg gcgccgcaga ctgggaggtc ttccacattg gcgagaggat
     1861 cttccttgca gtggcaaaca gtcacagcta cgatgtgcag atgcaggcac aaaatgactc
     1921 ctatgtcctc agctctgtta tctacgagct gaacatcacc gctcagacct ttgtcaagtt
     1981 ccaggacatc cccacctgca gtgccctgga ctgggagttt ttctccgtgg gagaagatca
     2041 cttcctggtg gttgcgaact cctttgacgg aaacaccttc tcagtgaaca gtattattta
     2101 caggtggcaa ggctatgagg gcttcgtggc cgtacacaaa ctccccactt ttggctgtcg
     2161 ggactgggag gcttttaaca ccactgctgg ctcttacctc atctactcca gcgccaagga
     2221 gcccctctcc agggtcctga agctgaggac tggctgaagt taccctggat cccgctgccc
     2281 cctaataccc accagctagg catgtgcagc aggcaggacc cacccaccca gccctccctg
     2341 gtcctggggc aggtggagaa gcctgtgcac ctctctgcac actctaagct ggcccttccc
     2401 ctctccccca actgggggct gtaccagaac cacagtcctg gtgact
//
