LOCUS       NM_145272               1041 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens chromosome 17 open reading frame 50 (C17orf50), mRNA.
ACCESSION   NM_145272
VERSION     NM_145272.4
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 1041)
  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 1041)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 1041)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006237.1, DB452451.1, AY557347.1 and AI004987.1.
            
            On Nov 22, 2018 this sequence version replaced NM_145272.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC021727.2, BI562070.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000605587.2/ ENSP00000475146.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC006237.1         27103-27112         c
            11-68               DB452451.1         1-58
            69-801              AY557347.1         14-746
            802-1041            AI004987.1         4-243               c
FEATURES             Location/Qualifiers
     source          1..1041
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..1041
                     /gene="C17orf50"
                     /note="chromosome 17 open reading frame 50"
                     /db_xref="GeneID:146853"
                     /db_xref="HGNC:HGNC:29581"
     exon            1..68
                     /gene="C17orf50"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..580
                     /gene="C17orf50"
                     /codon_start=1
                     /product="uncharacterized protein C17orf50"
                     /protein_id="NP_660315.2"
                     /db_xref="CCDS:CCDS42298.1"
                     /db_xref="GeneID:146853"
                     /db_xref="HGNC:HGNC:29581"
                     /translation="MDKHGVKTPLWKKETEELRAEDAEQEEGKEGSEDEDEDNQRPLE
                     DSATEGEEPPRVAEEGEGRERRSVSYCPLRQESSTQQVALLRRADSGFWGWLGPLALL
                     GGLTAPTDRKRSLPEEPCVLEIRRRPPRRGGCACCELLFCKKCRSLHSHPAYVAHCVL
                     DHPDLGKAGAAGNS"
     exon            69..387
                     /gene="C17orf50"
                     /inference="alignment:Splign:2.1.0"
     exon            388..1041
                     /gene="C17orf50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1017..1022
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C17orf50"
                     /note="hexamer: AATAAA"
     polyA_site      1041
                     /gene="C17orf50"
                     /note="major polyA site"
ORIGIN      
        1 accctctcac atcccagtct ctgatcaggg aaagcagggc acagccttgg gaagaatgga
       61 taagcatggt gtgaagaccc ccttgtggaa gaaggaaacg gaagagctcc gggccgagga
      121 cgcggagcaa gaggaaggga aggaggggtc ggaggacgag gacgaggaca accagaggcc
      181 gctggaggac agcgcgacgg agggcgagga gccgccgcgg gtagcggagg agggcgaagg
      241 ccgcgagcgg cgctcagtgt cctactgccc gctgcgccag gagtccagca cccagcaggt
      301 ggcgctgctg cggcgcgcgg acagcggctt ctggggctgg ctcggcccct tagcgctgct
      361 gggcggccta acagctccca ccgacaggaa gcggagcctc ccggaggagc cgtgcgtgct
      421 ggagatccgg cgacgaccgc cgcgccgcgg gggctgtgct tgctgcgagc tcctcttctg
      481 caagaaatgc aggagtctgc acagccaccc agcctatgtg gcgcactgcg ttctggatca
      541 cccggatctg ggtaaggcgg gggccgctgg gaactcctga gcgcccccgc tcccagcctt
      601 tgtgccctcc atcatttcct ggccccagac cccctaccga ccttctctct tggagcgcgg
      661 agccctcttc gacgcattcc gcaggaccgc cccttctcag ctgctgccca gagcgccccc
      721 atccgtcaag aaggcccact gttggtgctt ggttcccatc tgtcacctag cgcccccagt
      781 gcagagccca gcataaccta gagcccgctg tcaacagcgc ccaccgaggg ctccccgccc
      841 ccacgcagca ccagcgccac cgcacacctg actctgtccg ctcacacagc ctcaccttca
      901 cctcttgggt atttcagatc cgctctggcc cagtgggcag aggcatcgcc tagagaaaat
      961 aacctcaggg ttccctcatc cctctgacaa acctgcctct ttccctgaaa ccattcaata
     1021 aaacctctga tcaaagtgtc a
//
