LOCUS       NM_001318252            2138 bp    mRNA    linear   PRI 21-NOV-2024
DEFINITION  Homo sapiens cholesin (CHLSN), transcript variant 4, mRNA.
ACCESSION   NM_001318252 XM_005249888
VERSION     NM_001318252.2
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 2138)
  AUTHORS   Ryk,A., Marcinkiewicz,A., Chrzanowski,J., Michalak,A.M., Drozdz,I.,
            Burzynski,J., Krejca,M. and Fendler,W.
  TITLE     Cholesin receptor signalling is active in cardiovascular
            system-associated adipose tissue and correlates with SGLT2i
            treatment in patients with diabetes
  JOURNAL   Cardiovasc Diabetol 23 (1), 211 (2024)
   PUBMED   38902687
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2138)
  AUTHORS   Hu,X., Chen,F., Jia,L., Long,A., Peng,Y., Li,X., Huang,J., Wei,X.,
            Fang,X., Gao,Z., Zhang,M., Liu,X., Chen,Y.G., Wang,Y., Zhang,H. and
            Wang,Y.
  TITLE     A gut-derived hormone regulates cholesterol metabolism
  JOURNAL   Cell 187 (7), 1685-1700 (2024)
   PUBMED   38503280
  REMARK    GeneRIF: A gut-derived hormone regulates cholesterol metabolism.
REFERENCE   3  (bases 1 to 2138)
  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   4  (bases 1 to 2138)
  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   5  (bases 1 to 2138)
  AUTHORS   Meeks,K.A.C., Henneman,P., Venema,A., Addo,J., Bahendeka,S.,
            Burr,T., Danquah,I., Galbete,C., Mannens,M.M.A.M.,
            Mockenhaupt,F.P., Owusu-Dabo,E., Rotimi,C.N., Schulze,M.B.,
            Smeeth,L., Spranger,J., Zafarmand,M.H., 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   6  (bases 1 to 2138)
  AUTHORS   Willer,C.J., Schmidt,E.M., Sengupta,S., Peloso,G.M., Gustafsson,S.,
            Kanoni,S., Ganna,A., Chen,J., Buchkovich,M.L., Mora,S.,
            Beckmann,J.S., Bragg-Gresham,J.L., Chang,H.Y., Demirkan,A., Den
            Hertog,H.M., Do,R., Donnelly,L.A., Ehret,G.B., Esko,T.,
            Feitosa,M.F., Ferreira,T., Fischer,K., Fontanillas,P., Fraser,R.M.,
            Freitag,D.F., Gurdasani,D., Heikkila,K., Hypponen,E., Isaacs,A.,
            Jackson,A.U., Johansson,A., Johnson,T., Kaakinen,M., Kettunen,J.,
            Kleber,M.E., Li,X., Luan,J., Lyytikainen,L.P., Magnusson,P.K.E.,
            Mangino,M., Mihailov,E., Montasser,M.E., Muller-Nurasyid,M.,
            Nolte,I.M., O'Connell,J.R., Palmer,C.D., Perola,M., Petersen,A.K.,
            Sanna,S., Saxena,R., Service,S.K., Shah,S., Shungin,D., Sidore,C.,
            Song,C., Strawbridge,R.J., Surakka,I., Tanaka,T., Teslovich,T.M.,
            Thorleifsson,G., Van den Herik,E.G., Voight,B.F., Volcik,K.A.,
            Waite,L.L., Wong,A., Wu,Y., Zhang,W., Absher,D., Asiki,G.,
            Barroso,I., Been,L.F., Bolton,J.L., Bonnycastle,L.L., Brambilla,P.,
            Burnett,M.S., Cesana,G., Dimitriou,M., Doney,A.S.F., Doring,A.,
            Elliott,P., Epstein,S.E., Ingi Eyjolfsson,G., Gigante,B.,
            Goodarzi,M.O., Grallert,H., Gravito,M.L., Groves,C.J., Hallmans,G.,
            Hartikainen,A.L., Hayward,C., Hernandez,D., Hicks,A.A., Holm,H.,
            Hung,Y.J., Illig,T., Jones,M.R., Kaleebu,P., Kastelein,J.J.P.,
            Khaw,K.T., Kim,E., Klopp,N., Komulainen,P., Kumari,M.,
            Langenberg,C., Lehtimaki,T., Lin,S.Y., Lindstrom,J., Loos,R.J.F.,
            Mach,F., McArdle,W.L., Meisinger,C., Mitchell,B.D., Muller,G.,
            Nagaraja,R., Narisu,N., Nieminen,T.V.M., Nsubuga,R.N., Olafsson,I.,
            Ong,K.K., Palotie,A., Papamarkou,T., Pomilla,C., Pouta,A.,
            Rader,D.J., Reilly,M.P., Ridker,P.M., Rivadeneira,F., Rudan,I.,
            Ruokonen,A., Samani,N., Scharnagl,H., Seeley,J., Silander,K.,
            Stancakova,A., Stirrups,K., Swift,A.J., Tiret,L.,
            Uitterlinden,A.G., van Pelt,L.J., Vedantam,S., Wainwright,N.,
            Wijmenga,C., Wild,S.H., Willemsen,G., Wilsgaard,T., Wilson,J.F.,
            Young,E.H., Zhao,J.H., Adair,L.S., Arveiler,D., Assimes,T.L.,
            Bandinelli,S., Bennett,F., Bochud,M., Boehm,B.O., Boomsma,D.I.,
            Borecki,I.B., Bornstein,S.R., Bovet,P., Burnier,M., Campbell,H.,
            Chakravarti,A., Chambers,J.C., Chen,Y.I., Collins,F.S.,
            Cooper,R.S., Danesh,J., Dedoussis,G., de Faire,U., Feranil,A.B.,
            Ferrieres,J., Ferrucci,L., Freimer,N.B., Gieger,C., Groop,L.C.,
            Gudnason,V., Gyllensten,U., Hamsten,A., Harris,T.B., Hingorani,A.,
            Hirschhorn,J.N., Hofman,A., Hovingh,G.K., Hsiung,C.A.,
            Humphries,S.E., Hunt,S.C., Hveem,K., Iribarren,C., Jarvelin,M.R.,
            Jula,A., Kahonen,M., Kaprio,J., Kesaniemi,A., Kivimaki,M.,
            Kooner,J.S., Koudstaal,P.J., Krauss,R.M., Kuh,D., Kuusisto,J.,
            Kyvik,K.O., Laakso,M., Lakka,T.A., Lind,L., Lindgren,C.M.,
            Martin,N.G., Marz,W., McCarthy,M.I., McKenzie,C.A., Meneton,P.,
            Metspalu,A., Moilanen,L., Morris,A.D., Munroe,P.B., Njolstad,I.,
            Pedersen,N.L., Power,C., Pramstaller,P.P., Price,J.F., Psaty,B.M.,
            Quertermous,T., Rauramaa,R., Saleheen,D., Salomaa,V.,
            Sanghera,D.K., Saramies,J., Schwarz,P.E.H., Sheu,W.H.,
            Shuldiner,A.R., Siegbahn,A., Spector,T.D., Stefansson,K.,
            Strachan,D.P., Tayo,B.O., Tremoli,E., Tuomilehto,J., Uusitupa,M.,
            van Duijn,C.M., Vollenweider,P., Wallentin,L., Wareham,N.J.,
            Whitfield,J.B., Wolffenbuttel,B.H.R., Ordovas,J.M., Boerwinkle,E.,
            Palmer,C.N.A., Thorsteinsdottir,U., Chasman,D.I., Rotter,J.I.,
            Franks,P.W., Ripatti,S., Cupples,L.A., Sandhu,M.S., Rich,S.S.,
            Boehnke,M., Deloukas,P., Kathiresan,S., Mohlke,K.L., Ingelsson,E.
            and Abecasis,G.R.
  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   7  (bases 1 to 2138)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   8  (bases 1 to 2138)
  AUTHORS   Yashin,A.I., Wu,D., Arbeev,K.G. and Ukraintseva,S.V.
  TITLE     Joint influence of small-effect genetic variants on human longevity
  JOURNAL   Aging (Albany NY) 2 (9), 612-620 (2010)
   PUBMED   20834067
REFERENCE   9  (bases 1 to 2138)
  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   10 (bases 1 to 2138)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  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
            BC006224.2, AC091729.4 and AF495721.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001318252.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 1. Variants 1-4 all encode the same isoform (a).
            
            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 :: AF495721.1, SRR3476690.936627.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397098.8/ ENSP00000380286.3
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                BC006224.2         11-69
            60-875              AC091729.4         64229-65044         c
            876-1954            AF495721.1         842-1920
            1955-2138           BC006224.2         1091-1274
FEATURES             Location/Qualifiers
     source          1..2138
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..2138
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /note="cholesin"
                     /db_xref="GeneID:84310"
                     /db_xref="HGNC:HGNC:22421"
     exon            1..933
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1063
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /inference="alignment:Splign:2.1.0"
     CDS             935..1519
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /note="isoform a is encoded by transcript variant 4;
                     uncharacterized protein C7orf50; protein cholesin"
                     /codon_start=1
                     /product="protein cholesin isoform a"
                     /protein_id="NP_001305181.1"
                     /db_xref="CCDS:CCDS5320.1"
                     /db_xref="GeneID:84310"
                     /db_xref="HGNC:HGNC:22421"
                     /translation="MAKQKRKVPEVTEKKNKKLKKASAEGPLLGPEAAPSGEGAGSKG
                     EAVLRPGLDAEPELSPEEQRVLERKLKKERKKEERQRLREAGLVAQHPPARRSGAELA
                     LDYLCRWAQKHKNWRFQKTRQTWLLLHMYDSDKVPDEHFSTLLAYLEGLQGRARELTV
                     QKAEALMRELDEEGSDPPLPGRAQRIRQVLQLLS"
     exon            1064..1257
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1339
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /inference="alignment:Splign:2.1.0"
     exon            1340..2138
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2117..2122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /note="hexamer: AATAAA"
     polyA_site      2138
                     /gene="CHLSN"
                     /gene_synonym="C7orf50; YCR016W"
                     /note="major polyA site"
ORIGIN      
        1 ggcgtccgcg acgcagctgt tcacgcttag gtgggcgacg tgggcgcagg tgggcgcagg
       61 taggcgcgtg gggcggcggc ggggtggccg gcgggtcagg gcgccaggag acccagagcc
      121 ccggggcggg ctcccgcggg gctccgcccc ctccacgtgg gtgcgcggag gcccggcgcg
      181 gcgcgaccgg gcggcggccc tggggtccgc ggtgctgggg aggctggtgc ggccggtgcg
      241 gccggtgcgt cccggcgcgg gctccgacac ccgcacccgc ctctgggtta actcagcgcg
      301 ggcgagtgga agggactcag ctggctccta ggtttcaggc cgtcagggct tgcagtggct
      361 ctggtttcat tgtctttctc tgaagacgcc ctgattgccc tccgaggctt tcagctccca
      421 ctttctcttt ttcaattttt gaggcagtgt ctcgctgtgc cacccaggct ggagtgcaat
      481 ggcgtgatca tagctcactg cagcctccac ctcctgggct caagccgtcc tcccgcctca
      541 tcctcccaag tagctgggac cacatgcgcg cgccaccaca cccggataat ttttaaaaat
      601 gttttttgta gaaatggggt ctcaccatgt tacccaggct ggtctcgaat tcttgggctc
      661 aagcgatgga tcctcctgcc tcggcctccc aaagtgctgg gattacagga gtgagccaac
      721 gcgcttggcc tcactttcca tcataagcat gctttccgtt tccttccttc cgtcattcat
      781 tcattcattt ttaaaaaacg ttcattgggt tcctcctgca ctgttcgggg cattgggcta
      841 cagctgtcaa caagtggaga caagtctgtg atctagtgaa cttccattct ggaggggaga
      901 gacagatgaa caaggtgcac agagcaggtg atggatggca aaacagaaga gaaaagttcc
      961 tgaagtgaca gagaaaaaga acaaaaagct gaagaaggcg tcagcagagg ggccactgct
     1021 gggccctgag gctgcaccaa gtggcgaagg agccggctcc aagggcgaag ctgtgctcag
     1081 gcccgggctg gacgcagagc cagagctgtc cccagaggag cagagggtcc tggaaaggaa
     1141 gctgaaaaag gaacggaaga aagaggagag gcagcgtctg cgggaggcag gccttgtggc
     1201 ccagcacccg cctgccaggc gctcgggggc cgaactggcc ctggactacc tctgcagatg
     1261 ggcccaaaag cacaagaact ggaggtttca gaagacgagg cagacgtggc tcctgctgca
     1321 catgtatgac agtgacaagg ttcccgatga gcacttctcc accctgctgg cctacctgga
     1381 ggggctgcag ggccgggccc gagagctgac ggtgcagaag gcggaagccc tgatgcggga
     1441 gctggatgag gagggctctg atccccccct gccggggagg gcccagcgca tccgacaggt
     1501 gctgcagctg ctctcctagt gggttcagcg cggggcgggg ccgctgccca gtgcagggct
     1561 gcctcagacc acacagggtg cagctcctcc ggcggtgggg gccgggttca ccagcagggc
     1621 agcggctgag caagggcttt cagctcctcc ggtggtgggg gccgggatca ccagcaccag
     1681 agcctcgcaa gggccccttc cctcctccag accctccttg gccggtgacg gctgtgacag
     1741 tgatggcagg ttcagtgcct tcagcgcaga gcgtggatgc tctggaatca cccggacccc
     1801 tggccttgga gggaccctcc agccccagga atctgctttg gagggaaatg tctatttttc
     1861 taccgggaat attttagaga ttggggcatg ctggctcctc ccgccagctg caaacctgca
     1921 ccttccgcct gattcccgat ccccctgcgt gggccgcatt cctggtcccc tgcctgcgtc
     1981 catcgagggg cctggctgtg gcctgttttc ctttgacccc acacagcgtc attgcgggtc
     2041 atggggagcc cctggtggga gcttgtggag tcggatcacg tacctgtgca gaaaccgcct
     2101 ctgtggctgc atttgaaata aaacccgacc cagcagca
//
