LOCUS       NM_001424333            1245 bp    mRNA    linear   PRI 21-SEP-2023
DEFINITION  Homo sapiens chromosome 7 open reading frame 50 (C7orf50),
            transcript variant 26, mRNA.
ACCESSION   NM_001424333 XM_054359222
VERSION     NM_001424333.1
KEYWORDS    RefSeq.
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 1245)
  AUTHORS   Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
            Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
            Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
            Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
            Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
  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   2  (bases 1 to 1245)
  AUTHORS   Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
            R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
            Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
            Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
            Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
            Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
            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 JN, Rangarajan S,
            Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
            D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
            Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
            Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
            Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
            MA.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1245)
  AUTHORS   Meeks KAC, Henneman P, Venema A, Addo J, Bahendeka S, Burr T,
            Danquah I, Galbete C, Mannens MMAM, Mockenhaupt FP, Owusu-Dabo E,
            Rotimi CN, Schulze MB, Smeeth L, Spranger J, Zafarmand MH, Adeyemo
            A and Agyemang C.
  TITLE     Epigenome-wide association study in whole blood on type 2 diabetes
            among sub-Saharan African individuals: findings from the RODAM
            study
  JOURNAL   Int J Epidemiol 48 (1), 58-70 (2019)
   PUBMED   30107520
  REMARK    GeneRIF: Three ubiquitous methylation loci were consistently and
            strongly associated with type 2 diabetes in Ghanaians: TXNIP,
            C7orf50 and CPT1A
REFERENCE   4  (bases 1 to 1245)
  AUTHORS   Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
            S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
            Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
            Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
            Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
            Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
            M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
            PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
            IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
            R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
            Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
            EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
            D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
            Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
            A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
            MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
            Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
            MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
            P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
            RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
            Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
            Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
            Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
            H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
            L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
            C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
            Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
            M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
            M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
            Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
            J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
            Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
            Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
            Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
            Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
            Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
            W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
            Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
            PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
            Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
            AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
            Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
            Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
            JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
            Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
            Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
            Abecasis GR.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   5  (bases 1 to 1245)
  AUTHORS   Castello A, Fischer B, Eichelbaum K, Horos R, Beckmann BM, Strein
            C, Davey NE, Humphreys DT, Preiss T, Steinmetz LM, Krijgsveld J and
            Hentze MW.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (bases 1 to 1245)
  AUTHORS   Yashin AI, Wu D, Arbeev KG and Ukraintseva SV.
  TITLE     Joint influence of small-effect genetic variants on human longevity
  JOURNAL   Aging (Albany NY) 2 (9), 612-620 (2010)
   PUBMED   20834067
REFERENCE   7  (bases 1 to 1245)
  AUTHORS   Satoh J, Obayashi S, Misawa T, Sumiyoshi K, Oosumi K and Tabunoki
            H.
  TITLE     Protein microarray analysis identifies human cellular prion protein
            interactors
  JOURNAL   Neuropathol Appl Neurobiol 35 (1), 16-35 (2009)
   PUBMED   18482256
REFERENCE   8  (bases 1 to 1245)
  AUTHORS   Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS,
            Noh SM, Kim S, Yoo HS, Kim YS and Kim NS.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CP068271.2.
            
            On Sep 21, 2023 this sequence version replaced XM_054359222.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BQ049678.1, BM464700.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465413 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                CP068271.2         1240765-1240804     c
            41-170              CP068271.2         1231507-1231636     c
            171-364             CP068271.2         1114946-1115139     c
            365-446             CP068271.2         1105466-1105547     c
            447-1245            CP068271.2         1102002-1102800     c
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..1245
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="chromosome 7 open reading frame 50"
                     /db_xref="GeneID:84310"
                     /db_xref="HGNC:HGNC:22421"
     exon            1..36
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /inference="alignment:Splign:2.1.0"
     exon            37..170
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..626
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="isoform a is encoded by transcript variant 26;
                     uncharacterized protein C7orf50"
                     /codon_start=1
                     /product="uncharacterized protein C7orf50 isoform a"
                     /protein_id="NP_001411262.1"
                     /db_xref="GeneID:84310"
                     /db_xref="HGNC:HGNC:22421"
                     /translation="

MAKQKRKVPEVTEKKNKKLKKASAEGPLLGPEAAPSGEGAGSKGEAVLRPGLDAEPELSPEEQRVLERKLKKERKKEERQRLREAGLVAQHPPARRSGAELALDYLCRWAQKHKNWRFQKTRQTWLLLHMYDSDKVPDEHFSTLLAYLEGLQGRARELTVQKAEALMRELDEEGSDPPLPGRAQRIRQVLQLLS"

     misc_feature    42..290
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BRJ6.1);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    108..110
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9BRJ6.1); phosphorylation site"
     misc_feature    216..218
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9BRJ6.1);
                     phosphorylation site"
     misc_feature    330..332
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BRJ6.1); phosphorylation site"
     misc_feature    564..566
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BRJ6.1); phosphorylation site"
     exon            171..364
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /inference="alignment:Splign:2.1.0"
     exon            365..446
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /inference="alignment:Splign:2.1.0"
     exon            447..1245
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1224..1229
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="hexamer: AATAAA"
     polyA_site      1245
                     /gene="C7orf50"
                     /gene_synonym="YCR016W"
                     /note="major polyA site"
ORIGIN      

ggcgtccgcgacgcagctgttcacgcttaggtgggcgcaggatggcaaaacagaagagaaaagttcctgaagtgacagagaaaaagaacaaaaagctgaagaaggcgtcagcagaggggccactgctgggccctgaggctgcaccaagtggcgaaggagccggctccaagggcgaagctgtgctcaggcccgggctggacgcagagccagagctgtccccagaggagcagagggtcctggaaaggaagctgaaaaaggaacggaagaaagaggagaggcagcgtctgcgggaggcaggccttgtggcccagcacccgcctgccaggcgctcgggggccgaactggccctggactacctctgcagatgggcccaaaagcacaagaactggaggtttcagaagacgaggcagacgtggctcctgctgcacatgtatgacagtgacaaggttcccgatgagcacttctccaccctgctggcctacctggaggggctgcagggccgggcccgagagctgacggtgcagaaggcggaagccctgatgcgggagctggatgaggagggctctgatccccccctgccggggagggcccagcgcatccgacaggtgctgcagctgctctcctagtgggttcagcgcggggcggggccgctgcccagtgcagggctgcctcagaccacacagggtgcagctcctccggcggtgggggccgggttcaccagcagggcagcggctgagcaagggctttcagctcctccggtggtgggggccgggatcaccagcaccagagcctcgcaagggccccttccctcctccagaccctccttggccggtgacggctgtgacagtgatggcaggttcagtgccttcagcgcagagcgtggatgctctggaatcacccggacccctggccttggagggaccctccagccccaggaatctgctttggagggaaatgtctatttttctaccgggaatattttagagattggggcatgctggctcctcccgccagctgcaaacctgcaccttccgcctgattcccgatccccctgcgtgggccgcattcctggtcccctgcctgcgtccatcgaggggcctggctgtggcctgttttcctttgaccccacacagcgtcattgcgggtcatggggagcccctggtgggagcttgtggagtcggatcacgtacctgtgcagaaaccgcctctgtggctgcatttgaaataaaacccgacccagcagca

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