LOCUS       NM_006134               2332 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens transmembrane protein 50B (TMEM50B), transcript
            variant 1, mRNA.
ACCESSION   NM_006134
VERSION     NM_006134.7
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 2332)
  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   2  (bases 1 to 2332)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112.. PMID: 25572966]
REFERENCE   3  (bases 1 to 2332)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   4  (bases 1 to 2332)
  AUTHORS   Moldrich,R.X., Laine,J., Visel,A., Beart,P.M., Laffaire,J.,
            Rossier,J. and Potier,M.C.
  TITLE     Transmembrane protein 50b (C21orf4), a candidate for Down syndrome
            neurophenotypes, encodes an intracellular membrane protein
            expressed in the rodent brain
  JOURNAL   Neuroscience 154 (4), 1255-1266 (2008)
   PUBMED   18541381
REFERENCE   5  (bases 1 to 2332)
  AUTHORS   Denoeud,F., Kapranov,P., Ucla,C., Frankish,A., Castelo,R.,
            Drenkow,J., Lagarde,J., Alioto,T., Manzano,C., Chrast,J., Dike,S.,
            Wyss,C., Henrichsen,C.N., Holroyd,N., Dickson,M.C., Taylor,R.,
            Hance,Z., Foissac,S., Myers,R.M., Rogers,J., Hubbard,T., Harrow,J.,
            Guigo,R., Gingeras,T.R., Antonarakis,S.E. and Reymond,A.
  TITLE     Prominent use of distal 5' transcription start sites and discovery
            of a large number of additional exons in ENCODE regions
  JOURNAL   Genome Res 17 (6), 746-759 (2007)
   PUBMED   17567994
REFERENCE   6  (bases 1 to 2332)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2332)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 2332)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   9  (bases 1 to 2332)
  AUTHORS   Reboul,J., Gardiner,K., Monneron,D., Uze,G. and Lutfalla,G.
  TITLE     Comparative genomic analysis of the interferon/interleukin-10
            receptor gene cluster
  JOURNAL   Genome Res 9 (3), 242-250 (1999)
   PUBMED   10077530
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA286739.1, BC000569.2, BF696480.1 and AL355685.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006134.6.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.20357.1,
                                           SRR1660805.150858.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000542230.7/ ENSP00000439768.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                DA286739.1         36-84
            50-1196             BC000569.2         1-1147
            1197-1373           BF696480.1         182-358
            1374-2332           AL355685.1         56-1014
FEATURES             Location/Qualifiers
     source          1..2332
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..2332
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /note="transmembrane protein 50B"
                     /db_xref="GeneID:757"
                     /db_xref="HGNC:HGNC:1280"
                     /db_xref="MIM:617894"
     exon            1..137
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     exon            138..277
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..655
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /note="HCV p7-transregulated protein 3; HCV
                     p7-trans-regulated protein 3"
                     /codon_start=1
                     /product="transmembrane protein 50B"
                     /protein_id="NP_006125.2"
                     /db_xref="CCDS:CCDS13625.1"
                     /db_xref="GeneID:757"
                     /db_xref="HGNC:HGNC:1280"
                     /db_xref="MIM:617894"
                     /translation="MAGFLDNFRWPECECIDWSERRNAVASVVAGILFFTGWWIMIDA
                     AVVYPKPEQLNHAFHTCGVFSTLAFFMINAVSNAQVRGDSYESGCLGRTGARVWLFIG
                     FMLMFGSLIASMWILFGAYVTQNTDVYPGLAVFFQNALIFFSTLIYKFGRTEELWT"
     exon            278..390
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     exon            391..458
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     exon            459..551
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     exon            552..609
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     exon            610..2332
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      851..856
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /note="hexamer: AATACA"
     polyA_site      873
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /note="major polyA site"
     regulatory      2311..2316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /note="hexamer: AATAAA"
     polyA_site      2332
                     /gene="TMEM50B"
                     /gene_synonym="C21orf4; HCVP7TP3"
                     /note="major polyA site"
ORIGIN      
        1 gctctatcct cgcgtctgct cccagctccg ggctcccggg gctgaggtgg agccgcggga
       61 cgccggcagg gttgtggcgc agcagtctcc ttcctgcgcg cgcgcctgaa gtcggcgtgg
      121 gcgtttgagg aagctgggat acagcattta atgaaaaatt tatgcttaag aagtaaaaat
      181 ggcaggcttc ctagataatt ttcgttggcc agaatgtgaa tgtattgact ggagtgagag
      241 aagaaatgct gtggcatctg ttgtcgcagg tatattgttt tttacaggct ggtggataat
      301 gattgatgca gctgtggtgt atcctaagcc agaacagttg aaccatgcct ttcacacatg
      361 tggtgtattt tccacattgg ctttcttcat gataaatgct gtatccaatg ctcaggtgag
      421 aggtgatagc tatgaaagcg gctgtttagg aagaacaggt gctcgagttt ggcttttcat
      481 tggtttcatg ttgatgtttg ggtcacttat tgcttccatg tggattcttt ttggtgcata
      541 tgttacccaa aatactgatg tttatccggg actagctgtg ttttttcaaa atgcacttat
      601 attttttagc actctgatct acaaatttgg aagaaccgaa gagctatgga cctgagatca
      661 cttcttaagt cacattttcc ttttgttata ttctgtttgt agataggttt tttatctctc
      721 agtacacatt gccaaatgga gtagattgta cattaaatgt tttgtttctt tacattttta
      781 tgttctgagt tttgaaatag ttttatgaaa tttctttatt tttcattgca tagactgtta
      841 atatgtatat aatacaagac tatatgaatt ggataatgag tatcagtttt ttattcctga
      901 gatttagaac ttgatctact ccctgagcca gggttacatc atcttgtcat tttagaagta
      961 accactcttg tctctctggc tgggcacggt ggctcatgcc tgtaatccca gcactttggg
     1021 aggccgaggc gggccgattg cttgaggtca agtgtttgag accagcctgg ccaacatggc
     1081 gaaaccccat ctactaaaaa tacaaaaatt agccaggcat ggtggtgggt gcctgtaatc
     1141 ccaactacct aggaggctga ggcaggagaa tcgcttgaac ccggggggca gaggttgtag
     1201 tgagctgagt ttgcgccact gcactctagc ctgggggaga aagtgaaact ccctctcaaa
     1261 aaaaagaagg accactctca gtatctgatt tctgaagatg tacaaaaaaa tatagcttca
     1321 tatatctaga atgagcactg agccataaaa ggttttcagc aagttgtaac ttattttggc
     1381 ctaaaaatga ggtttttttg gtaaagaaaa aatatttgtt cttatgtatt gaagaagtgt
     1441 acttttatat aatgattttt taaatgccca aaggactagt ttgaaagctt cttttaaaaa
     1501 gaattcctct aatatgactt tatgtgagaa gggataatac atgatcaaat aaactcagtt
     1561 ttttatggtt actgtaaaaa gactgtgtaa ggcagctcag caccatgctt ctcgtaaaag
     1621 cagcttcaaa tatccactgg ggttatcttt tgacaacttg ccattatctg atgttacaca
     1681 attcaatagc aagcaagttt gagacaatcg cagtttaaaa gcatgaacca tttaacaaaa
     1741 agtggaataa ttaaagataa agcacttctt cccaaaggga attatcacct agtgaaaaat
     1801 tatgcatttc atctactcag ttaccgactg caagtctctc ctcgctctag ctctcaagct
     1861 ttgggtgaat attcctgtga aatatatctt caacttgaaa gttcatactc caatcaaaaa
     1921 ctccttttac tgagtttgca gtactgtatt tgcactgttt gtattcctct gggcccttat
     1981 tgctactttt gctttccttt gttacacaga ttttgtgttg cactttttct ccagaggggt
     2041 gttgtagagc cttggttgta tgaataatac cagtggtagt gtccacggct ctaatgtaag
     2101 cccatttggc atcactcctc tcctctctct tgagaggatt tcttgtgcac agagtatgaa
     2161 gcagttgtgg agcgctgtgc ctttgtcaag ataccatctt gtttgatgac ttctttcttt
     2221 gctgtttttt cttcaaaatg ttagtaagct ctgtcatgct tctagcaaat tgtaagacta
     2281 attatttgtt tccacctcat aacctgttgc aataaatatt acttctcata ca
//
