LOCUS       NP_113630                181 aa            linear   PRI 27-APR-2025
DEFINITION  transmembrane protein 47 [Homo sapiens].
ACCESSION   NP_113630
VERSION     NP_113630.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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  (residues 1 to 181)
  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 (residues 1 to 181)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..181
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp21.1"
     Protein         1..181
                     /product="transmembrane protein 47"
                     /note="transmembrane 4 superfamily member 10; brain cell
                     membrane protein 1"
                     /calculated_mol_wt=19867
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000269|PubMed:25489052; propagated from
                     UniProtKB/Swiss-Prot (Q9BQJ4.1)"
     Region          21..170
                     /region_name="PMP22_Claudin"
                     /note="PMP-22/EMP/MP20/Claudin family; cl21598"
                     /db_xref="CDD:473919"
     Site            21..41
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1)"
     Site            83..103
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1)"
     Site            115..135
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1)"
     Site            152..172
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BQJ4.1)"
     CDS             1..181
                     /gene="TMEM47"
                     /gene_synonym="BCMP1; TM4SF10; VAB-9"
                     /coded_by="NM_031442.4:257..802"
                     /db_xref="CCDS:CCDS14235.1"
                     /db_xref="GeneID:83604"
                     /db_xref="HGNC:HGNC:18515"
                     /db_xref="MIM:300698"
ORIGIN      
        1 masagsgmee vrvsvltplk lvglvcifla lcldlgavls pawvtadhqy ylslwescrk
       61 pasldiwhce stlssdwqia tlalllggaa iiliaflvgl isicvgsrrr fyrpvavmlf
      121 aavvlqvcsl vlypikfiet vslkiyhefn wgyglawgat ifsfggaily clnpknyedy
      181 y
//
