LOCUS       NM_001285816             883 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus transmembrane protein 53 (Tmem53), transcript variant
            6, mRNA.
ACCESSION   NM_001285816
VERSION     NM_001285816.1
KEYWORDS    RefSeq.
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 883)
  AUTHORS   Guo,L., Iida,A., Bhavani,G.S., Gowrishankar,K., Wang,Z., Xue,J.Y.,
            Wang,J., Miyake,N., Matsumoto,N., Hasegawa,T., Iizuka,Y.,
            Matsuda,M., Nakashima,T., Takechi,M., Iseki,S., Yambe,S.,
            Nishimura,G., Koseki,H., Shukunami,C., Girisha,K.M. and Ikegawa,S.
  TITLE     Deficiency of TMEM53 causes a previously unknown sclerosing bone
            disorder by dysregulation of BMP-SMAD signaling
  JOURNAL   Nat Commun 12 (1), 2046 (2021)
   PUBMED   33824347
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 883)
  AUTHORS   Malik,P., Korfali,N., Srsen,V., Lazou,V., Batrakou,D.G.,
            Zuleger,N., Kavanagh,D.M., Wilkie,G.S., Goldberg,M.W. and
            Schirmer,E.C.
  TITLE     Cell-specific and lamin-dependent targeting of novel transmembrane
            proteins in the nuclear envelope
  JOURNAL   Cell Mol Life Sci 67 (8), 1353-1369 (2010)
   PUBMED   20091084
REFERENCE   3  (bases 1 to 883)
  AUTHORS   McClintock,T.S., Glasser,C.E., Bose,S.C. and Bergman,D.A.
  TITLE     Tissue expression patterns identify mouse cilia genes
  JOURNAL   Physiol Genomics 32 (2), 198-206 (2008)
   PUBMED   17971504
  REMARK    GeneRIF: Tmem53 is most abundantly expressed in tissues rich in
            highly ciliated cells, such as olfactory sensory neurons, and is
            predicted to be important to cilia.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL671866.8, AK004164.1, AW049729.1 and AL844169.6.
            
            Transcript Variant: This variant (6) lacks a portion of the 5'
            coding region and initiates translation at a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (d) is
            shorter at the N-terminus, compared to isoform a. Both variants 5
            and 6 encode isoform d.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BF123463.1, SRR7345562.1591129.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               AL671866.8         7634-7817           c
            185-843             AK004164.1         264-922
            844-877             AW049729.1         13-46               c
            878-883             AL844169.6         10816-10821
FEATURES             Location/Qualifiers
     source          1..883
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 53.43 cM"
     gene            1..883
                     /gene="Tmem53"
                     /gene_synonym="1110038M16Rik; 1500001P22Rik;
                     1700012A05Rik"
                     /note="transmembrane protein 53"
                     /db_xref="GeneID:68777"
                     /db_xref="MGI:MGI:1916027"
     exon            1..184
                     /gene="Tmem53"
                     /gene_synonym="1110038M16Rik; 1500001P22Rik;
                     1700012A05Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            185..883
                     /gene="Tmem53"
                     /gene_synonym="1110038M16Rik; 1500001P22Rik;
                     1700012A05Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             221..838
                     /gene="Tmem53"
                     /gene_synonym="1110038M16Rik; 1500001P22Rik;
                     1700012A05Rik"
                     /note="isoform d is encoded by transcript variant 6;
                     nuclear envelope transmembrane protein 4"
                     /codon_start=1
                     /product="transmembrane protein 53 isoform d"
                     /protein_id="NP_001272745.1"
                     /db_xref="GeneID:68777"
                     /db_xref="MGI:MGI:1916027"
                     /translation="MVFFSESLGIPSLRVIAQKLLELLFDYEIEREPLLFHVFSNAGV
                     MLYRYVLELLQTHQRFRHLHVVGTIFDSGPGDSNLIGALRALATILERRPAVLRLLLL
                     AAFALVVILFHFLLAPFTALFHTHFYDRLQDSGSCWPELYLYSRADKVVSARDVERMV
                     EARLAHQVMVRGVDFVSSAHVSHLRDYPTYYTSLCVDFMHNCVQC"
     regulatory      853..858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tmem53"
                     /gene_synonym="1110038M16Rik; 1500001P22Rik;
                     1700012A05Rik"
                     /note="hexamer: AATAAA"
     polyA_site      877
                     /gene="Tmem53"
                     /gene_synonym="1110038M16Rik; 1500001P22Rik;
                     1700012A05Rik"
                     /note="major polyA site"
ORIGIN      
        1 cggggattgg acagcgctgg gcgtgggcgg ggaggggcgt ggcccggcgg cgtcccggcc
       61 ccgccgaggt gaaactgcgg gagttccggc gggaggcctg tgctgaagac ccgcaccttc
      121 accatggcct cggccgagct ggattacagc atcgagatcc cggatcagcc ctgctggagc
      181 cagaggctgc attgtgatcc gatacacggc cccctggcac atggtcttct tctctgagtc
      241 cttgggcatc ccttcacttc gcgtgatagc ccagaaactg ctggagctcc tctttgacta
      301 tgagattgag cgggagcctc tgctcttcca cgtcttcagc aatgccggcg tcatgctcta
      361 ccgctacgtg ctggagctcc tacagaccca ccagcgcttc cgccatttgc atgtggtggg
      421 caccatcttt gacagtggtc ctggcgatag caacctgata ggggccctga gggctctggc
      481 aaccatcctg gagcgccgac ctgcggtgct gcgcctgttg ctcctggcag catttgccct
      541 ggtggtgatc ctgtttcact tcctgcttgc tccattcact gccctcttcc acacccactt
      601 ctacgacagg ctgcaggact caggctcctg ctggcctgaa ctctacctct actctagagc
      661 tgataaggtg gtctcggcca gggatgtgga acgtatggta gaggcacgcc tggctcacca
      721 ggtcatggtg cgtggagtgg actttgtgtc atctgcgcat gtcagccacc tccgagacta
      781 tcctacttac tatacaagtc tgtgtgttga cttcatgcat aattgtgtcc aatgctgagg
      841 tcccgctccg gaaataaacg ccgacacctc ccttcaacct tta
//
