LOCUS       NM_031442               4040 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 47 (TMEM47), mRNA.
ACCESSION   NM_031442
VERSION     NM_031442.4
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 4040)
  AUTHORS   Men,X., Su,M., Ma,J., Mou,Y., Dai,P., Chen,C. and Cheng,X.A.
  TITLE     Overexpression of TMEM47 Induces Tamoxifen Resistance in Human
            Breast Cancer Cells
  JOURNAL   Technol Cancer Res Treat 20, 15330338211004916 (2021)
   PUBMED   33745390
  REMARK    GeneRIF: Overexpression of TMEM47 Induces Tamoxifen Resistance in
            Human Breast Cancer Cells.
REFERENCE   2  (bases 1 to 4040)
  AUTHORS   Ng,K.T., Yeung,O.W., Liu,J., Li,C.X., Liu,H., Liu,X.B., Qi,X.,
            Ma,Y.Y., Lam,Y.F., Lau,M.Y., Qiu,W.Q., Shiu,H.C., Lai,M.K., Lo,C.M.
            and Man,K.
  TITLE     Clinical significance and functional role of transmembrane protein
            47 (TMEM47) in chemoresistance of hepatocellular carcinoma
  JOURNAL   Int J Oncol 57 (4), 956-966 (2020)
   PUBMED   32945373
  REMARK    GeneRIF: Clinical significance and functional role of transmembrane
            protein 47 (TMEM47) in chemoresistance of hepatocellular carcinoma.
REFERENCE   3  (bases 1 to 4040)
  AUTHORS   Christodoulou,A., Maimaris,G., Makrigiorgi,A., Charidemou,E.,
            Luchtenborg,C., Ververis,A., Georgiou,R., Lederer,C.W., Haffner,C.,
            Brugger,B. and Santama,N.
  TITLE     TMEM147 interacts with lamin B receptor, regulates its localization
            and levels, and affects cholesterol homeostasis
  JOURNAL   J Cell Sci 133 (16) (2020)
   PUBMED   32694168
  REMARK    GeneRIF: TMEM147 interacts with lamin B receptor, regulates its
            localization and levels, and affects cholesterol homeostasis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4040)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 4040)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 4040)
  AUTHORS   Gourraud,P.A., Sdika,M., Khankhanian,P., Henry,R.G., Beheshtian,A.,
            Matthews,P.M., Hauser,S.L., Oksenberg,J.R., Pelletier,D. and
            Baranzini,S.E.
  TITLE     A genome-wide association study of brain lesion distribution in
            multiple sclerosis
  JOURNAL   Brain 136 (Pt 4), 1012-1024 (2013)
   PUBMED   23412934
REFERENCE   7  (bases 1 to 4040)
  AUTHORS   Azhibekov,T.A., Wu,Z., Padiyar,A., Bruggeman,L.A. and Simske,J.S.
  TITLE     TM4SF10 and ADAP interaction in podocytes: role in Fyn activity and
            nephrin phosphorylation
  JOURNAL   Am J Physiol Cell Physiol 301 (6), C1351-C1359 (2011)
   PUBMED   21881001
  REMARK    GeneRIF: TM4SF10, possibly through ADAP, may regulate Fyn activity
REFERENCE   8  (bases 1 to 4040)
  AUTHORS   Cheung,I.Y., Feng,Y., Danis,K., Shukla,N., Meyers,P., Ladanyi,M.
            and Cheung,N.K.
  TITLE     Novel markers of subclinical disease for Ewing family tumors from
            gene expression profiling
  JOURNAL   Clin Cancer Res 13 (23), 6978-6983 (2007)
   PUBMED   18056173
REFERENCE   9  (bases 1 to 4040)
  AUTHORS   Christophe-Hobertus,C., Kooy,F., Gecz,J., Abramowicz,M.J.,
            Holinski-Feder,E., Schwartz,C. and Christophe,D.
  TITLE     TM4SF10 gene sequencing in XLMR patients identifies common
            polymorphisms but no disease-associated mutation
  JOURNAL   BMC Med Genet 5, 22 (2004)
   PUBMED   15345028
  REMARK    GeneRIF: Single nucleotide polymorphisms, but no disease-associated
            mutations, were identified in X-linked mental retardation patients.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 4040)
  AUTHORS   Christophe-Hobertus,C., Szpirer,C., Guyon,R. and Christophe,D.
  TITLE     Identification of the gene encoding Brain Cell Membrane Protein 1
            (BCMP1), a putative four-transmembrane protein distantly related to
            the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and
            the Claudins
  JOURNAL   BMC Genomics 2, 3 (2001)
   PUBMED   11472633
  REMARK    GeneRIF: A 4-transmembrane protein, related to PMP22/EMPs and the
            Claudins, localizes to the plasma membrane and the ER. The mRNA is
            present in high amounts in brain.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039242.1, CX788638.1 and
            AL596285.4.
            
            On Nov 22, 2018 this sequence version replaced NM_031442.3.
            
            Summary: This gene encodes a member of the PMP22/EMP/claudin
            protein family. The encoded protein is localized to the ER and the
            plasma membrane. In dogs, transcripts of this gene exist at high
            levels in the brain. [provided by RefSeq, Jul 2008].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.12199.1, BC039242.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155974, SAMEA2467146
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000275954.4/ ENSP00000275954.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               BC039242.1         4-253
            251-844             CX788638.1         242-835
            845-4040            AL596285.4         60720-63915         c
FEATURES             Location/Qualifiers
     source          1..4040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.1"
     gene            1..4040
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /note="transmembrane protein 47"
                     /db_xref="GeneID:83604"
                     /db_xref="HGNC:HGNC:18515"
                     /db_xref="MIM:300698"
     exon            1..482
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /inference="alignment:Splign:2.1.0"
     CDS             257..802
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /note="transmembrane 4 superfamily member 10; brain cell
                     membrane protein 1"
                     /codon_start=1
                     /product="transmembrane protein 47"
                     /protein_id="NP_113630.1"
                     /db_xref="CCDS:CCDS14235.1"
                     /db_xref="GeneID:83604"
                     /db_xref="HGNC:HGNC:18515"
                     /db_xref="MIM:300698"
                     /translation="MASAGSGMEEVRVSVLTPLKLVGLVCIFLALCLDLGAVLSPAWV
                     TADHQYYLSLWESCRKPASLDIWHCESTLSSDWQIATLALLLGGAAIILIAFLVGLIS
                     ICVGSRRRFYRPVAVMLFAAVVLQVCSLVLYPIKFIETVSLKIYHEFNWGYGLAWGAT
                     IFSFGGAILYCLNPKNYEDYY"
     exon            483..623
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /inference="alignment:Splign:2.1.0"
     exon            624..4040
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4015..4020
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /note="hexamer: AATAAA"
     polyA_site      4040
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /note="major polyA site"
ORIGIN      
        1 agagcgcggc gcggggccgg cggcgaaggt ccggggtgga atcgacgtcg ctgcggctgc
       61 cgacgaccca cacccggccg gccgcctccg cagacccacc ttggccgcgc ggcagggggc
      121 gcgcagagcc ccgagggagc gagtccccgc gcgtggcagc tcggcggctt ctcccttcgg
      181 gaggtccggc tcccggctct ccggacccgc ctggcgtcct cgcctgcggc ggggcggacg
      241 acagcggcgc ccaggaatgg cttcggcggg cagcggcatg gaggaggtgc gcgtgtcggt
      301 gctgaccccc ttgaagctgg tcgggctggt gtgcatcttc ctggcgctgt gtctggacct
      361 gggggcggtg ctgagcccgg cctgggtcac agctgaccac cagtactacc tgtcgttgtg
      421 ggagtcctgc cggaaacccg ccagcttgga catctggcac tgcgagtcca cgctcagcag
      481 cgattggcag attgctactc tggctttact cctgggcggc gctgccatca ttctcattgc
      541 attcctggtg ggtttgattt ctatctgcgt gggatctcga aggcgtttct atagacctgt
      601 tgcggtcatg ctttttgcag cagttgtttt acaggtttgc agcctggtcc tttacccaat
      661 caagttcatt gaaactgtga gcttgaaaat ttaccatgag ttcaactggg gttatggcct
      721 ggcctggggt gcaactatat tttcgtttgg gggtgccatc ctttattgcc tgaaccctaa
      781 gaactatgaa gactactact agaaccaata gtctcaaagt aaaaacaacc accaccatcc
      841 aacaaaagga ttacgtctgc atcttttcta acttactatt ttctaaaaca cttgtggagc
      901 atcaagcagt ttgctcagtt gatttaatct tttttgcctt ttggctgtca acatcataac
      961 cagcttttac atccatttta gaaatctgca caaattaaga gagctgatta gacataggca
     1021 aatgctgcaa acttccaata tgttcatatc gtttttcttg acaaatgaag ggtctatatg
     1081 acagcaacca ttgtgagaaa ctagttggaa tgagatttgc ctcaatctcc tattgcctgc
     1141 aggggagcag ttggcataag caacatttag aagttccttt gcgctgacaa ggattccact
     1201 gttagagccc ttaccgcctg cttatcctac ccaatgacta cattggctgt tggttatttg
     1261 cttgagtgag cccttgaaaa atgaactgcc cttcagcatc taatgggagt tgtgaatgta
     1321 actggttaat gatacacatt ccaccttcag gaacactctt tttaatggga ggttatgctt
     1381 tggcaatcag cgtctccctg ggaagagagt caagacttgg agacatgtgc ttctcattat
     1441 gtggttagaa attggtgcct cagccctatc tagactgggg aaaaattgag gatctctgtt
     1501 tttcctgggg caaacagaaa gaaatctgca tgagttgctt ttgtaccctt taaatcattt
     1561 gccaaacatt gcagcaaaca agtgtgcgta tgtaacaagc ttcactgttt ttatagaagg
     1621 tgaaccatta gtataaatgg taataagttg ttccctaacc ctccacatac atttgcctat
     1681 cacacgtaaa attaatattt actctagtga agtggtttga gcactaacct tgtacacatt
     1741 gttaagaggc ttagattggt attcatactt atttaccata caaaagtatg gtaccttaaa
     1801 gcttttgctc tatgttcttt actgtttcac tggaaagtgt caatagagtt gcctaagaat
     1861 aaaaattgaa atggtgttaa tctgaaaatt aatgattctc tgtaagcact gtagttgaaa
     1921 agagagtagc aattaggatg atcattttgt gtaaaattca ttaaaataga aggctgctat
     1981 tttttgcaag tattttaaat gtcttcattt ttttaagaaa ggaatagcga tagatttata
     2041 taaatatcta aatgtctcag tagaggagta gaattcatct ggttatcacc tggtcctctg
     2101 aagttaactg atgggctaac cgatttgtgc acacacttag gatggattta tgttaaggga
     2161 attacttact gactgttcaa tggaaggaag tattaataat agggaataag tttgcaacta
     2221 atctcatgct gcaaacttgt gttaattctg tttaatatac aaatttggat agcttaatta
     2281 taaacatatt tttatatcaa atatacagtt ctaatataaa agttataaat aattattttt
     2341 gttaacaaag acactaaaac agtatgttct ggttttggcc ctcttgcaga aagaagcatt
     2401 agaaaaatta ctttaaaagt agctatatgt tactgtattg caaaatctgt taagagcagg
     2461 accacatcga tagtatttaa taatttgttt tacctcccaa aacacagttc ttctttcagc
     2521 ttgtcttaag aatggttgcc aaaaacaaca gccaaaaaaa aaaaacctat tttattatcc
     2581 aaatgctaga aaacacacat gaattttcta taaaatcacg aatatgaagt accaggttta
     2641 gtcttacttt agcaatgata gacaaaagcg aataaataca tcacagacag aaacctttat
     2701 aaaaatatat gattctataa agaatcatta gaaattatga gtggaaattc tccagaaaga
     2761 tagtattata gagtcttttg aagcaatttt ttgagaaata gtaaaatctg gggcagagtg
     2821 tcttgcagtt aattgcatat tgtcagagca gcatgagaaa tatgatattt ggatagggat
     2881 ttcagcaact aaacattctc tgttctgaga tctctttatt cctgaataat gaaagaatag
     2941 tactttggtg ctgacaccaa tgaggcactt ctcttggtcc tagtagagga tgcagtgtac
     3001 tgttaaacca atatcatcac atctcgagtc ttatcaagtt ttcattctct gtcaatatga
     3061 caagctcaaa gtgacagaat atgttatagg ttgaagcaca catatttgca gtttactgaa
     3121 aagtagattt cttatgtgac ttttttccct tctcagcaaa gagccctaca ctagatttct
     3181 accatcacta atatttggaa gtatttcatt actaacaatc tcagtacaac atgaaaattg
     3241 ttgcttctca tctaaaatac aattttgtct atcagaataa acacaagtga aattttcacc
     3301 tacattaaca ttatgtcttt gcagctttag gtttgttaga tgtgttctta agcataattt
     3361 ttagccacaa acccattgtt agatagatat ctatggatat agatctacat ctatagatat
     3421 agatatacac acatatatat actcacacac atatagcata aaatactcag cagggctagt
     3481 tattccgatt tcttgcacaa ttatttagct ttttgtaagt tcaacatgta aattttaaag
     3541 acataaatat agagagactt atgtgtttga atataaatga tatatatgga ttagcatgta
     3601 cctgtatatt attaaacatg caatgaactg actggtaagt gacgtctaat tgtatggcta
     3661 gcaatgtaat ttattcagac tgtatttttg tacagagcag tgcactctaa cctatgcctc
     3721 tgtgtcctct ttaatgccta aagctgtgcc tagaaatttc atctgtctta aaagtaaaat
     3781 atacttcatg ctgtttatgc tattagtttc tgtactgcta ttctatattt attattttta
     3841 aatatatgac atgtttacta cttaaacatg aattcatggt atcctggtta ttttttttaa
     3901 gtcatctggg ggaaaacctg tttatcactc cagtgatttt gagtttgcag tttcacaatc
     3961 agttcttcat ttcatgattt ttgtagttga catgaagtca tctatgtgga aaaaaataaa
     4021 aataaaagtg atttcacgga
//
