LOCUS       NM_001289970             622 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens small integral membrane protein 23 (SMIM23), mRNA.
ACCESSION   NM_001289970 XM_003403786 XM_003960360 XM_928062
VERSION     NM_001289970.2
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 622)
  AUTHORS   Greliche,N., Germain,M., Lambert,J.C., Cohen,W., Bertrand,M.,
            Dupuis,A.M., Letenneur,L., Lathrop,M., Amouyel,P., Morange,P.E. and
            Tregouet,D.A.
  TITLE     A genome-wide search for common SNP x SNP interactions on the risk
            of venous thrombosis
  JOURNAL   BMC Med Genet 14, 36 (2013)
   PUBMED   23509962
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 622)
  AUTHORS   Liu,F., van der Lijn,F., Schurmann,C., Zhu,G., Chakravarty,M.M.,
            Hysi,P.G., Wollstein,A., Lao,O., de Bruijne,M., Ikram,M.A., van der
            Lugt,A., Rivadeneira,F., Uitterlinden,A.G., Hofman,A.,
            Niessen,W.J., Homuth,G., de Zubicaray,G., McMahon,K.L.,
            Thompson,P.M., Daboul,A., Puls,R., Hegenscheid,K., Bevan,L.,
            Pausova,Z., Medland,S.E., Montgomery,G.W., Wright,M.J., Wicking,C.,
            Boehringer,S., Spector,T.D., Paus,T., Martin,N.G., Biffar,R. and
            Kayser,M.
  TITLE     A genome-wide association study identifies five loci influencing
            facial morphology in Europeans
  JOURNAL   PLoS Genet 8 (9), e1002932 (2012)
   PUBMED   23028347
REFERENCE   3  (bases 1 to 622)
  AUTHORS   Lango Allen,H., Estrada,K., Lettre,G., Berndt,S.I., Weedon,M.N.,
            Rivadeneira,F., Willer,C.J., Jackson,A.U., Vedantam,S.,
            Raychaudhuri,S., Ferreira,T., Wood,A.R., Weyant,R.J., Segre,A.V.,
            Speliotes,E.K., Wheeler,E., Soranzo,N., Park,J.H., Yang,J.,
            Gudbjartsson,D., Heard-Costa,N.L., Randall,J.C., Qi,L., Vernon
            Smith,A., Magi,R., Pastinen,T., Liang,L., Heid,I.M., Luan,J.,
            Thorleifsson,G., Winkler,T.W., Goddard,M.E., Sin Lo,K., Palmer,C.,
            Workalemahu,T., Aulchenko,Y.S., Johansson,A., Zillikens,M.C.,
            Feitosa,M.F., Esko,T., Johnson,T., Ketkar,S., Kraft,P., Mangino,M.,
            Prokopenko,I., Absher,D., Albrecht,E., Ernst,F., Glazer,N.L.,
            Hayward,C., Hottenga,J.J., Jacobs,K.B., Knowles,J.W., Kutalik,Z.,
            Monda,K.L., Polasek,O., Preuss,M., Rayner,N.W., Robertson,N.R.,
            Steinthorsdottir,V., Tyrer,J.P., Voight,B.F., Wiklund,F., Xu,J.,
            Zhao,J.H., Nyholt,D.R., Pellikka,N., Perola,M., Perry,J.R.,
            Surakka,I., Tammesoo,M.L., Altmaier,E.L., Amin,N., Aspelund,T.,
            Bhangale,T., Boucher,G., Chasman,D.I., Chen,C., Coin,L.,
            Cooper,M.N., Dixon,A.L., Gibson,Q., Grundberg,E., Hao,K., Juhani
            Junttila,M., Kaplan,L.M., Kettunen,J., Konig,I.R., Kwan,T.,
            Lawrence,R.W., Levinson,D.F., Lorentzon,M., McKnight,B.,
            Morris,A.P., Muller,M., Suh Ngwa,J., Purcell,S., Rafelt,S.,
            Salem,R.M., Salvi,E., Sanna,S., Shi,J., Sovio,U., Thompson,J.R.,
            Turchin,M.C., Vandenput,L., Verlaan,D.J., Vitart,V., White,C.C.,
            Ziegler,A., Almgren,P., Balmforth,A.J., Campbell,H., Citterio,L.,
            De Grandi,A., Dominiczak,A., Duan,J., Elliott,P., Elosua,R.,
            Eriksson,J.G., Freimer,N.B., Geus,E.J., Glorioso,N., Haiqing,S.,
            Hartikainen,A.L., Havulinna,A.S., Hicks,A.A., Hui,J., Igl,W.,
            Illig,T., Jula,A., Kajantie,E., Kilpelainen,T.O., Koiranen,M.,
            Kolcic,I., Koskinen,S., Kovacs,P., Laitinen,J., Liu,J., Lokki,M.L.,
            Marusic,A., Maschio,A., Meitinger,T., Mulas,A., Pare,G.,
            Parker,A.N., Peden,J.F., Petersmann,A., Pichler,I.,
            Pietilainen,K.H., Pouta,A., Ridderstrale,M., Rotter,J.I.,
            Sambrook,J.G., Sanders,A.R., Schmidt,C.O., Sinisalo,J., Smit,J.H.,
            Stringham,H.M., Bragi Walters,G., Widen,E., Wild,S.H.,
            Willemsen,G., Zagato,L., Zgaga,L., Zitting,P., Alavere,H.,
            Farrall,M., McArdle,W.L., Nelis,M., Peters,M.J., Ripatti,S., van
            Meurs,J.B., Aben,K.K., Ardlie,K.G., Beckmann,J.S., Beilby,J.P.,
            Bergman,R.N., Bergmann,S., Collins,F.S., Cusi,D., den Heijer,M.,
            Eiriksdottir,G., Gejman,P.V., Hall,A.S., Hamsten,A., Huikuri,H.V.,
            Iribarren,C., Kahonen,M., Kaprio,J., Kathiresan,S., Kiemeney,L.,
            Kocher,T., Launer,L.J., Lehtimaki,T., Melander,O., Mosley,T.H. Jr.,
            Musk,A.W., Nieminen,M.S., O'Donnell,C.J., Ohlsson,C., Oostra,B.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Rioux,J.D., Rissanen,A.,
            Rivolta,C., Schunkert,H., Shuldiner,A.R., Siscovick,D.S.,
            Stumvoll,M., Tonjes,A., Tuomilehto,J., van Ommen,G.J., Viikari,J.,
            Heath,A.C., Martin,N.G., Montgomery,G.W., Province,M.A., Kayser,M.,
            Arnold,A.M., Atwood,L.D., Boerwinkle,E., Chanock,S.J., Deloukas,P.,
            Gieger,C., Gronberg,H., Hall,P., Hattersley,A.T., Hengstenberg,C.,
            Hoffman,W., Lathrop,G.M., Salomaa,V., Schreiber,S., Uda,M.,
            Waterworth,D., Wright,A.F., Assimes,T.L., Barroso,I., Hofman,A.,
            Mohlke,K.L., Boomsma,D.I., Caulfield,M.J., Cupples,L.A.,
            Erdmann,J., Fox,C.S., Gudnason,V., Gyllensten,U., Harris,T.B.,
            Hayes,R.B., Jarvelin,M.R., Mooser,V., Munroe,P.B., Ouwehand,W.H.,
            Penninx,B.W., Pramstaller,P.P., Quertermous,T., Rudan,I.,
            Samani,N.J., Spector,T.D., Volzke,H., Watkins,H., Wilson,J.F.,
            Groop,L.C., Haritunians,T., Hu,F.B., Kaplan,R.C., Metspalu,A.,
            North,K.E., Schlessinger,D., Wareham,N.J., Hunter,D.J.,
            O'Connell,J.R., Strachan,D.P., Wichmann,H.E., Borecki,I.B., van
            Duijn,C.M., Schadt,E.E., Thorsteinsdottir,U., Peltonen,L.,
            Uitterlinden,A.G., Visscher,P.M., Chatterjee,N., Loos,R.J.,
            Boehnke,M., McCarthy,M.I., Ingelsson,E., Lindgren,C.M.,
            Abecasis,G.R., Stefansson,K., Frayling,T.M. and Hirschhorn,J.N.
  TITLE     Hundreds of variants clustered in genomic loci and biological
            pathways affect human height
  JOURNAL   Nature 467 (7317), 832-838 (2010)
   PUBMED   20881960
REFERENCE   4  (bases 1 to 622)
  AUTHORS   Lowe,J.K., Maller,J.B., Pe'er,I., Neale,B.M., Salit,J., Kenny,E.E.,
            Shea,J.L., Burkhardt,R., Smith,J.G., Ji,W., Noel,M., Foo,J.N.,
            Blundell,M.L., Skilling,V., Garcia,L., Sullivan,M.L., Lee,H.E.,
            Labek,A., Ferdowsian,H., Auerbach,S.B., Lifton,R.P.,
            Newton-Cheh,C., Breslow,J.L., Stoffel,M., Daly,M.J., Altshuler,D.M.
            and Friedman,J.M.
  TITLE     Genome-wide association studies in an isolated founder population
            from the Pacific Island of Kosrae
  JOURNAL   PLoS Genet 5 (2), e1000365 (2009)
   PUBMED   19197348
REFERENCE   5  (bases 1 to 622)
  AUTHORS   Schmutz,J., Martin,J., Terry,A., Couronne,O., Grimwood,J.,
            Lowry,S., Gordon,L.A., Scott,D., Xie,G., Huang,W., Hellsten,U.,
            Tran-Gyamfi,M., She,X., Prabhakar,S., Aerts,A., Altherr,M.,
            Bajorek,E., Black,S., Branscomb,E., Caoile,C., Challacombe,J.F.,
            Chan,Y.M., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Grigoriev,I., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Israni,S.,
            Jett,J., Kadner,K., Kimball,H., Kobayashi,A., Lopez,F., Lou,Y.,
            Martinez,D., Medina,C., Morgan,J., Nandkeshwar,R., Noonan,J.P.,
            Pitluck,S., Pollard,M., Predki,P., Priest,J., Ramirez,L.,
            Retterer,J., Rodriguez,A., Rogers,S., Salamov,A., Salazar,A.,
            Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N., Wheeler,J.,
            Wu,K., Yang,J., Dickson,M., Cheng,J.F., Eichler,E.E., Olsen,A.,
            Pennacchio,L.A., Rokhsar,D.S., Richardson,P., Lucas,S.M.,
            Myers,R.M. and Rubin,E.M.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011410.6 and EG327678.1.
            
            On Jul 29, 2019 this sequence version replaced NM_001289970.1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DY655650.1, DY655664.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000523047.4/ ENSP00000430818.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AC011410.6         79077-79186         c
            111-381             EG327678.1         1-271
            382-622             AC011410.6         73867-74107         c
FEATURES             Location/Qualifiers
     source          1..622
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..622
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /note="small integral membrane protein 23"
                     /db_xref="GeneID:644994"
                     /db_xref="HGNC:HGNC:34440"
     exon            1..160
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..574
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /note="CTB-78H18.1"
                     /codon_start=1
                     /product="small integral membrane protein 23"
                     /protein_id="NP_001276899.1"
                     /db_xref="CCDS:CCDS87347.1"
                     /db_xref="GeneID:644994"
                     /db_xref="HGNC:HGNC:34440"
                     /translation="MATQQVDSRRQVAAEQVAAQLLERRRGSHCDDEKQTLLALLILV
                     LYLSTEIWGSSWEVSERIRECNYYQNLAVPQGLEYQTNEPSEEPIKTIRNWLKEKLHV
                     FSEKLEEEVQQLEQLAWDLELWLDALLGEPHQEEHCSTYKSHLWEWAWALGREHKGGE
                     GLLEISLSGAEL"
     exon            161..212
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /inference="alignment:Splign:2.1.0"
     exon            213..280
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /inference="alignment:Splign:2.1.0"
     exon            281..622
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      601..606
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /note="hexamer: AATAAA"
     polyA_site      622
                     /gene="SMIM23"
                     /gene_synonym="C5orf50"
                     /note="major polyA site"
ORIGIN      
        1 agggtgccct tctgtctgtt gagtgtggtc cacccaggca gccagatctg aggccatggc
       61 aacccagcaa gtggacagca gaaggcaggt ggcagcagag caggtggcag cccagctgct
      121 tgaacggaga aggggcagcc actgtgatga cgagaagcag acgctgttgg cattgctgat
      181 cttggtgctg tacttgagca cagagatatg gggaagcagt tgggaggtgt cagaaaggat
      241 cagagaatgt aactactacc agaatcttgc agttccccag gggcttgaat atcagaccaa
      301 cgagccctca gaagaaccga taaagaccat caggaactgg ctgaaggaga agttgcatgt
      361 cttctcggag aagttagagg aagaggtgca gcagctggag cagctagcgt gggacctgga
      421 actgtggctg gatgctcttc tgggagagcc acaccaggag gagcactgct ccacatataa
      481 aagtcacttg tgggagtggg cctgggccct ggggagagag cacaaaggtg gggaggggtt
      541 gctagagatt tctctaagcg gggcagagct ctgactcttg aagttccagt caggcaagaa
      601 aataaagtag ttgggaaatg aa
//
