LOCUS       NM_153365               4521 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane anterior posterior transformation 1
            (TAPT1), mRNA.
ACCESSION   NM_153365
VERSION     NM_153365.3
KEYWORDS    RefSeq; MANE Select.
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 4521)
  AUTHORS   Etich,J., Semler,O., Stevenson,N.L., Stephan,A., Besio,R.,
            Garibaldi,N., Reintjes,N., Dafinger,C., Liebau,M.C., Baumann,U.,
            Morgelin,M., Forlino,A., Stephens,D.J., Netzer,C., Zaucke,F. and
            Rehberg,M.
  TITLE     TAPT1-at the crossroads of extracellular matrix and signaling in
            Osteogenesis imperfecta
  JOURNAL   EMBO Mol Med 15 (7), e17528 (2023)
   PUBMED   37292039
  REMARK    GeneRIF: TAPT1-at the crossroads of extracellular matrix and
            signaling in Osteogenesis imperfecta.
REFERENCE   2  (bases 1 to 4521)
  AUTHORS   Nabavizadeh,N., Bressin,A., Shboul,M., Moreno Traspas,R.,
            Chia,P.H., Bonnard,C., Szenker-Ravi,E., Saribas,B., Beillard,E.,
            Altunoglu,U., Hojati,Z., Drutman,S., Freier,S., El-Khateeb,M.,
            Fathallah,R., Casanova,J.L., Soror,W., Arafat,A.,
            Escande-Beillard,N., Mayer,A. and Reversade,B.
  TITLE     A progeroid syndrome caused by a deep intronic variant in TAPT1 is
            revealed by RNA/SI-NET sequencing
  JOURNAL   EMBO Mol Med 15 (2), e16478 (2023)
   PUBMED   36652330
  REMARK    GeneRIF: A progeroid syndrome caused by a deep intronic variant in
            TAPT1 is revealed by RNA/SI-NET sequencing.
REFERENCE   3  (bases 1 to 4521)
  AUTHORS   Wang,B., Zhao,Q., Gong,X., Wang,C., Bai,Y., Wang,H., Zhou,J. and
            Rong,X.
  TITLE     Transmembrane anterior posterior transformation 1 regulates BMP
            signaling and modulates the protein stability of SMAD1/5
  JOURNAL   J Biol Chem 298 (12), 102684 (2022)
   PUBMED   36370851
  REMARK    GeneRIF: Transmembrane anterior posterior transformation 1
            regulates BMP signaling and modulates the protein stability of
            SMAD1/5.
            Erratum:[J Biol Chem. 2023 Jul;299(7):104957. doi:
            10.1016/j.jbc.2023.104957.. PMID: 37393648]
REFERENCE   4  (bases 1 to 4521)
  AUTHORS   Symoens,S., Barnes,A.M., Gistelinck,C., Malfait,F., Guillemyn,B.,
            Steyaert,W., Syx,D., D'hondt,S., Biervliet,M., De Backer,J.,
            Witten,E.P., Leikin,S., Makareeva,E., Gillessen-Kaesbach,G.,
            Huysseune,A., Vleminckx,K., Willaert,A., De Paepe,A., Marini,J.C.
            and Coucke,P.J.
  TITLE     Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex
            Lethal Osteochondrodysplasia
  JOURNAL   Am J Hum Genet 97 (4), 521-534 (2015)
   PUBMED   26365339
REFERENCE   5  (bases 1 to 4521)
  AUTHORS   Argos,M., Tong,L., Pierce,B.L., Rakibuz-Zaman,M., Ahmed,A.,
            Islam,T., Rahman,M., Paul-Brutus,R., Rahaman,R., Roy,S.,
            Jasmine,F., Kibriya,M.G. and Ahsan,H.
  TITLE     Genome-wide association study of smoking behaviours among
            Bangladeshi adults
  JOURNAL   J Med Genet 51 (5), 327-333 (2014)
   PUBMED   24665060
REFERENCE   6  (bases 1 to 4521)
  AUTHORS   Howell,G.R., Shindo,M., Murray,S., Gridley,T., Wilson,L.A. and
            Schimenti,J.C.
  TITLE     Mutation of a ubiquitously expressed mouse transmembrane protein
            (Tapt1) causes specific skeletal homeotic transformations
  JOURNAL   Genetics 175 (2), 699-707 (2007)
   PUBMED   17151244
  REMARK    GeneRIF: A perinatal lethal mutation in mouse Tapt1 results in
            homeotic, posterior-to-anterior transformations of the axial
            skeleton.
REFERENCE   7  (bases 1 to 4521)
  AUTHORS   Baldwin,B.R., Zhang,C.O. and Keay,S.
  TITLE     Cloning and epitope mapping of a functional partial fusion receptor
            for human cytomegalovirus gH
  JOURNAL   J Gen Virol 81 (Pt 1), 27-35 (2000)
   PUBMED   10640539
REFERENCE   8  (bases 1 to 4521)
  AUTHORS   Baldwin,B.R., Kleinberg,M. and Keay,S.
  TITLE     Molecular cloning and expression of receptor peptides that block
            human cytomegalovirus/cell fusion
  JOURNAL   Biochem Biophys Res Commun 219 (2), 668-673 (1996)
   PUBMED   8605045
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC066899.1, AC108063.3 and
            AA811306.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_153365.2.
            
            Summary: This gene encodes a highly conserved protein that
            localizes to the centrosome and/or ciliary basal body. Mutations in
            this gene disrupt Golgi morphology and trafficking and normal
            primary cilium formation and these mutations are congenitally
            manifested by severe undermineralization of the intra-uterine
            skeleton. A mutation in the mouse ortholog of this gene results in
            homeotic, posterior-to-anterior transformations of the axial
            skeleton which are similar to the phenotype of mouse homeobox C8
            gene mutants. In mouse, this gene is thought to function downstream
            of homeobox C8 to transduce extracellular patterning information
            during axial skeleton development. [provided by RefSeq, Jan 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074494.1, SRR1803611.153281.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000405303.7/ ENSP00000385347.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2283              BC066899.1         6-2288
            2284-4191           AC108063.3         133555-135462       c
            4192-4521           AA811306.1         23-352              c
FEATURES             Location/Qualifiers
     source          1..4521
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.32"
     gene            1..4521
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="transmembrane anterior posterior transformation 1"
                     /db_xref="GeneID:202018"
                     /db_xref="HGNC:HGNC:26887"
                     /db_xref="MIM:612758"
     exon            1..213
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1718
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="cytomegalovirus partial fusion receptor"
                     /codon_start=1
                     /product="transmembrane anterior posterior transformation
                     protein 1 homolog"
                     /protein_id="NP_699196.2"
                     /db_xref="CCDS:CCDS47030.1"
                     /db_xref="GeneID:202018"
                     /db_xref="HGNC:HGNC:26887"
                     /db_xref="MIM:612758"
                     /translation="MAGVGDAAAPGEGGGGGVDGPQRDGRGEAEQPGGSGGQGPPPAP
                     QLTETLGFYESDRRRERRRGRTELSLLRFLSAELTRGYFLEHNEAKYTERRERVYTCL
                     RIPRELEKLMVFGIFLCLDAFLYVFTLLPLRVFLALFRLLTLPCYGLRDRRLLQPAQV
                     CDILKGVILVICYFMMHYVDYSMMYHLIRGQSVIKLYIIYNMLEVADRLFSSFGQDIL
                     DALYWTATEPKERKRAHIGVIPHFFMAVLYVFLHAILIMVQATTLNVAFNSHNKSLLT
                     IMMSNNFVEIKGSVFKKFEKNNLFQMSNSDIKERFTNYVLLLIVCLRNMEQFSWNPDH
                     LWVLFPDVCMVIASEIAVDIVKHAFITKFNDITADVYSEYRASLAFDLVSSRQKNAYT
                     DYSDSVARRMGFIPLPLAVLLIRVVTSSIKVQGILSYACVILFYFGLISLKVLNSIVL
                     LGKSCQYVKEAKMEEKLSNPPATCTPGKPSSKSQNKCKPSQGLSTEENLSASITKQPI
                     HQKENIIPLLVTSNSDQFLTTPDGDEKDITQDNSELKHRSSKKDLLEIDRFTICGNRI
                     D"
     exon            214..344
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            345..463
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            464..626
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            627..762
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            763..860
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            861..930
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1011
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1121
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1181
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1250
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1327
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1488
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..4521
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2260..2265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="hexamer: AATAAA"
     polyA_site      2283
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="major polyA site"
     regulatory      3704..3709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="hexamer: AATAAA"
     polyA_site      3735
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="major polyA site"
     regulatory      4501..4506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
                     /note="hexamer: AATATA"
     polyA_site      4521
                     /gene="TAPT1"
                     /gene_synonym="CMVFR; OCLSBG"
ORIGIN      
        1 gttgtgctcg gaacatggcg ggcgtcggcg acgcggccgc tccgggagaa ggcggcggtg
       61 gcggcgtgga cggcccgcag cgggacggcc gcggcgaggc ggagcagccg ggcggcagcg
      121 gcggacaggg gcccccgccg gcgcctcagc tcacagagac gctgggcttc tacgagagcg
      181 accggcggcg ggagaggcgc cggggccgca cagagctttc attgttgagg ttcctcagtg
      241 ctgaactaac aagagggtac ttccttgaac ataatgaggc caagtataca gaaagaagag
      301 aaagagtata cacttgtttg cgaataccaa gagaattgga aaagctgatg gtttttggaa
      361 tctttctgtg cctggatgcg tttttgtatg tgttcaccct gcttccttta agagttttcc
      421 tggcactatt caggctcctc actttgcctt gctatggctt aagggacaga cgtttgcttc
      481 agcctgccca ggtgtgtgac attttgaagg gtgtcatttt ggtaatctgc tattttatga
      541 tgcactatgt tgactactcc atgatgtacc acctgataag ggggcagtcc gtcatcaagc
      601 tctacatcat ctacaacatg ctggaggtag ctgatcgtct gttttcatct tttggacaag
      661 acatattaga tgctctctat tggacagcaa cagagcctaa agaaagaaaa agagcccaca
      721 ttggggtgat tcctcacttt ttcatggctg ttctctatgt ctttttgcat gcaattctta
      781 taatggttca agcaacaact ctcaatgtag cttttaactc acacaacaag tctttgctta
      841 ctatcatgat gtctaataat tttgttgaaa ttaaaggaag tgttttcaag aagtttgaaa
      901 agaacaatct ctttcaaatg tcaaatagcg atattaagga acgattcaca aattatgtgc
      961 ttttactgat agtgtgtcta agaaacatgg aacagttttc ttggaatcca gatcatctct
     1021 gggtgttgtt tccagatgtc tgtatggtaa ttgcatcaga aattgccgtg gatattgtaa
     1081 aacatgcctt tattactaaa ttcaatgaca ttactgcaga tgtctacagt gaatatagag
     1141 ccagtcttgc ttttgacctt gttagcagcc gacagaaaaa tgcatacact gattacagtg
     1201 actctgtagc acggaggatg ggctttattc ctctcccact agctgtttta ctcatcagag
     1261 ttgtaacaag ctcaattaaa gtgcaaggaa tcctgtctta tgcctgtgtc atactcttct
     1321 attttgggtt gatatccctg aaagtactta atagcatcgt gctgttgggg aaatcgtgcc
     1381 agtatgtgaa ggaagccaaa atggaagaga agctgtcgaa tcctcccgca acctgcactc
     1441 caggcaagcc gtccagtaaa tcacagaaca aatgtaaacc ctctcaaggc ctttccacag
     1501 aagaaaacct gtctgcctcc atcaccaaac aacctattca tcaaaaggaa aatatcatac
     1561 cattacttgt gacaagcaat tctgatcagt ttttgacaac tccagatggt gacgagaagg
     1621 acataacgca ggacaattct gaattaaaac acagatcctc aaagaaagat ttgttagaga
     1681 tagacaggtt cacaatttgt ggaaaccgaa ttgactgaat ctgtggcttc atgcgctgaa
     1741 gaagctgggt cctggggcaa caagtgctgt gttgccagga caaatagatg ctaaacatgg
     1801 cacttaaata tttatttaaa aacttaaatt attattggca agcaaatctt agtatctttc
     1861 ttccagtaat atggcctggc tgagggtcag accacaggac aggagcgacc tccggccttg
     1921 actgtctggg aagcttgatg gattataaaa cttcctcctg cctggccaag cagcagcatc
     1981 atttccagga cccaacaaag gcaacatcaa aatctgtttt gctttgtcag tctgggcttc
     2041 cagaatgttg aatttgcctc aaggcctctt cagtataagg aaatacctgg aaaactgtga
     2101 aacttttacc acgacgtaat ctttccagtc tcatactatt ttcacaaaca gttttcaaac
     2161 gttacttcat ctgccaaagc attaaaaaaa ttaaacataa gtcaagataa atgttcttac
     2221 caccagaata acccttaaag atgtatctta attaatcaga ataaaaggct accttaaata
     2281 agacatgatg aatagtagca ttttgtaggg ttaaaaaaaa atgctaaact agtttattta
     2341 ttaaaaaaat aattaatgaa ggctatgcat tactgggaaa aatccttcat aatttttcag
     2401 tttactcttt aaagcaaaat gtgagctgta tgtcatttaa ttggtggata aaacaaattt
     2461 ccttacaaaa gggcactttt tacaccaagg aagcagagca gtgttaactt taaggtatac
     2521 ttaactgatt ttgctttaaa actaattact tcataaatta ttacagctaa aaggattcga
     2581 tgttgaacag gctgaaaaat tgtcaatgta caaaattcaa aactgtcaac tttaactgta
     2641 aagtaaatgc tccaagtgtg ttagacagca tcatcttgct tgggcttacc aaatgcatta
     2701 gtctttgtgt ttgggtcgac agcgagtgtg cctgtgctgg ggcagggtgt gtgttctgtg
     2761 ggagggtgtc tgtggggatg tgactatcag ggtgggcctg tgctggggat ggggcaggcc
     2821 tgggtctgga gaggattttg tgtgaaagta aatggggtgt ttgaggcgta tgggtggctg
     2881 ttggtgtggg gaggcatctg tgtatggctg ttgggaacag caaccaaaag gtgctttttg
     2941 gttttatttg agatgaagat tgtgtttccg cttaattact agtttgtggt ctatatcata
     3001 gaagttattt cccaccccat tttatcttga caaccgtgtt tgcatttctg taaaacttct
     3061 acaacttctg gtgtcagaac tgtccagaag atggtactgt taactgttat ttcctttgat
     3121 gttttgattt tgaagtttag ctctcatgca aatgtttcag gcgtacatac ataggcagaa
     3181 agcaattttt aggtgatttg tctgtttctt ggatgaaata taaagcaagc tttaatgttc
     3241 tgacttgttc atttgaaata caaaaaagta agtgaatttt aatgttttgc attaactaaa
     3301 gaaatctgaa gattaatgtt gaggaaattg tatggacatg cctttgtgaa accaggaagt
     3361 attttaagtt aaaaatgaaa aaggttttaa ttgctttgtg tgtgttttaa tggagcccca
     3421 ttttagaatt attttttcca tctcccttta ccaacaaaag gaacaatgcc accgtgaatg
     3481 gaatagtttg gggaaagctt tgccaaacac aaccctgatt tcagagcagg aacatggttt
     3541 ggatagatct tcagttccgc ttgaattatt ctgttactgc gctgtcattt tcagaagatt
     3601 tccattcctt tgcagatgct gttgggagtt cgggattatg ttcatttctt ctgttttaat
     3661 ggcattcagt actaatttta taagtgcatc ttgtgtgaat ctcaataaat tcagttttgt
     3721 aatctttttt aaaaaggtca ctgaatttat tttaatattt actattgtat ttggtagagt
     3781 gaatttccca ctgtataata agtatttatt tgtaattcac aagtgataga gctatcttaa
     3841 tttgaattat tgctttggtc ttaatggtgg caaaatgttt aattttgtct ttggaaaaaa
     3901 taggctcggc cttgattata gaccatttaa tatttctcag caaatgaagg tatttgcatt
     3961 ttacaagtgt tttgaatgtc acacaaaata tttttcacat ctgggagtca agttcaagac
     4021 agtgctttgg ttttaaaaaa atctaatgaa ggcacaggat aggccagacc cttattaggt
     4081 tttcctttag aataagtgta aagaccaagt gtcactgata cgcttgtcca gattttcttg
     4141 tggactttgg ccagtattta gagtttatat tcatgttaca taaagtgaaa gaaacttgct
     4201 ataattaggc catcaaaata tatcctgcca ctcctggtaa ctcagcagag gaggagataa
     4261 atttacaaaa taatgtaata tctctacatt gttacatgtt ttcaactatt ttttatcaac
     4321 aaagatttgt taatcacttc ctatgtgtca gaaactgttc taagtggtgg gatcagcaat
     4381 gagcaagata agtccctgtt cgtctgtgga agactgatag gaacaagtcg atgaaataat
     4441 gtctgctggt cacagagtgt ccactgacca aatgatctct caggcttatt tcagctctaa
     4501 aatatagttc tttaaaacgt t
//
