LOCUS       NM_001300747            2146 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens transmembrane protein 53 (TMEM53), transcript variant
            3, mRNA.
ACCESSION   NM_001300747 XM_005271194
VERSION     NM_001300747.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2146)
  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    GeneRIF: Deficiency of TMEM53 causes a previously unknown
            sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2146)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY108001.1, HY029536.1, BC064520.1 and BM675039.1.
            
            On Jun 1, 2019 this sequence version replaced NM_001300747.1.
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. The
            encoded isoform (3) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.816869.1,
                                           SRR1660809.246850.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2153307,
                                           SAMEA2154665 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                HY108001.1         130-168
            40-499              HY029536.1         1-460
            500-1564            BC064520.1         536-1600
            1565-2146           BM675039.1         17-598              c
FEATURES             Location/Qualifiers
     source          1..2146
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2146
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /note="transmembrane protein 53"
                     /db_xref="GeneID:79639"
                     /db_xref="HGNC:HGNC:26186"
                     /db_xref="MIM:619722"
     exon            1..151
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..834
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /note="isoform 3 is encoded by transcript variant 3; novel
                     DUF829 domain-containing protein; nuclear envelope
                     transmembrane protein 4"
                     /codon_start=1
                     /product="transmembrane protein 53 isoform 3"
                     /protein_id="NP_001287676.1"
                     /db_xref="CCDS:CCDS72773.1"
                     /db_xref="GeneID:79639"
                     /db_xref="HGNC:HGNC:26186"
                     /db_xref="MIM:619722"
                     /translation="MASAELDYTIEIPDQPCWSQKNSPSPGGKEAETRQPVVILLGWG
                     GCKDKNLAKYSAIYHKRKLLELLFDYEIEKEPLLFHVFSNGGVMLYRYVLELLQTRRF
                     CRLRVVGTIFDSAPGDSNLVGALRALAAILERRAAMLRLLLLVAFALVVVLFHVLLAP
                     ITALFHTHFYDRLQDAGSRWPELYLYSRADEVVLARDIERMVEARLARRVLARSVDFV
                     SSAHVSHLRDYPTYYTSLCVDFMRNCVRC"
     exon            152..273
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /inference="alignment:Splign:2.1.0"
     exon            274..2146
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      866..871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /note="hexamer: AATAAA"
     polyA_site      891
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /note="major polyA site"
     polyA_site      1214
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
     polyA_site      1559
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
     regulatory      2125..2130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
                     /note="hexamer: AATAAA"
     polyA_site      2146
                     /gene="TMEM53"
                     /gene_synonym="CTDI; NET4"
ORIGIN      
        1 gggcggcgcc caggaggcgc ccgggtgagg cacgggtgcg caagcgggag ttccggctgg
       61 agacccgtgc tctgggccgg cgccttcacc atggcctcgg cagagctgga ctacaccatc
      121 gagatcccgg atcagccctg ctggagccag aagaacagcc ccagcccagg tgggaaggag
      181 gcagaaactc ggcagcctgt ggtgattctc ttgggctggg gtggctgcaa ggacaagaac
      241 cttgccaagt acagtgccat ctaccacaaa aggaagctgc tcgagctgct ctttgattat
      301 gagattgaga aggagcccct gctcttccat gtcttcagca acggtggcgt catgctgtac
      361 cgctacgtgc tggagctcct gcagacccgt cgcttctgcc gcctgcgtgt ggtgggcacc
      421 atctttgaca gcgctcctgg tgacagcaac ctggtagggg ctctgcgggc cctggcagcc
      481 atcctggagc gccgggccgc catgctgcgc ctgttgctgc tggtggcctt tgccctggtg
      541 gtcgtcctgt tccacgtcct gcttgctccc atcacagccc tcttccacac ccacttctat
      601 gacaggctac aggacgcggg ctctcgctgg cccgagctct acctctactc gagggctgac
      661 gaagtagtcc tggccagaga catagaacgc atggtggagg cacgcctggc acgccgggtc
      721 ctggcgcgtt ctgtggattt cgtgtcatct gcacacgtca gccacctccg tgactaccct
      781 acttactaca caagcctctg tgtcgacttc atgcgcaact gcgtccgctg ctgaggccat
      841 tgctccatct cacctctgct ccagaaataa atgcctgaca cctccccaca acctgcaatc
      901 tgtcgggcac tcttctcgtt caactccctg tagccctttg ggactttgcg gtcccctaag
      961 tagaaaattc ctatgggcct gtctcctggg ggcctctgtc tgctggtggt ctgcttacca
     1021 cagaatccta aggggcagga gtgcctgggc atgtgtctgt gggagccttg cagtcagttg
     1081 tgtttggaca agtgcaacag tcaggctgct gattcctgtg gcatgcaggc tgtagaggtt
     1141 gacaaatgga ggggggtgtt gagggtgagc cctagttgat tttttaaaat ttaaactctg
     1201 gtaagaacat ttaatatgag acctactctc tttttttctt tacttattta tttatctatt
     1261 tatttcaaga cagggtctca ctctgtcacc taggctgggg tgcaatggtg caatcatggc
     1321 tcactgcagc ctcaacctcc caggctcaag tgatcctccc acctcagcct cccaaagtgc
     1381 taggattaca ggcatgagtc accgcgcctg gccaagatca cctaacaaaa ttgtaagtgt
     1441 gtacgatact taaaatttaa gagattatgt gcacggcaga cctctagaac tgaatagtct
     1501 tgcatcttgc ataattcaga acttcatcat cttgcataac tgaaactttg tgcctgttac
     1561 cagagttgag ttttgattcc ttgaatggaa ggtgaccttt gtggggagat gccagaggga
     1621 aggtatatcg gtcaggggta gcgtcaggct gcggataggg gctatgatct ttgctccagc
     1681 agggcgaagc cctacagtgt aaagtaccat tcacatggct cccacttggc agttcactca
     1741 gagaggctcc tctgacccca ttgcctggga gtctgaggta gaagccagat gaggagctga
     1801 ggttaggggc ctgcctggct ctaccacact ttgctaggaa gccgctgggt ctgggaaagt
     1861 tgcaagctga aagttgccag agacagtggg gggcaggaag gcagcagcat tgtaacagga
     1921 gctgggatga gctaactccc aagccctaaa gaccagaacc agggtaaggg gatttgggct
     1981 gaaatagcaa actccttcat cttctggaag ggagacccac ttagatactc tctaggcaga
     2041 agaggtgaat tcagcctgat agttcagtat cattgatcat tctagaagtc actactgcac
     2101 aatgttggca tatagtaggt attcaataaa tatttgattg aatgag
//
