LOCUS       NM_021184               2481 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.
ACCESSION   NM_021184
VERSION     NM_021184.4
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 2481)
  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 2481)
  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 2481)
  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)
REFERENCE   4  (bases 1 to 2481)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2481)
  AUTHORS   McKinnon,E., Morahan,G., Nolan,D. and James,I.
  CONSRTM   Diabetes Genetics Consortium
  TITLE     Association of MHC SNP genotype with susceptibility to type 1
            diabetes: a modified survival approach
  JOURNAL   Diabetes Obes Metab 11 Suppl 1 (Suppl 1), 92-100 (2009)
   PUBMED   19143821
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2481)
  AUTHORS   Harney,S.M., Vilarino-Guell,C., Adamopoulos,I.E., Sims,A.M.,
            Lawrence,R.W., Cardon,L.R., Newton,J.L., Meisel,C., Pointon,J.J.,
            Darke,C., Athanasou,N., Wordsworth,B.P. and Brown,M.A.
  TITLE     Fine mapping of the MHC Class III region demonstrates association
            of AIF1 and rheumatoid arthritis
  JOURNAL   Rheumatology (Oxford) 47 (12), 1761-1767 (2008)
   PUBMED   18835879
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2481)
  AUTHORS   Lehner,B., Semple,J.I., Brown,S.E., Counsell,D., Campbell,R.D. and
            Sanderson,C.M.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   8  (bases 1 to 2481)
  AUTHORS   Xie,T., Rowen,L., Aguado,B., Ahearn,M.E., Madan,A., Qin,S.,
            Campbell,R.D. and Hood,L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
REFERENCE   9  (bases 1 to 2481)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (bases 1 to 2481)
  AUTHORS   Sargent,C.A., Dunham,I. and Campbell,R.D.
  TITLE     Identification of multiple HTF-island associated genes in the human
            major histocompatibility complex class III region
  JOURNAL   EMBO J 8 (8), 2305-2312 (1989)
   PUBMED   2477242
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL662899.5, BC012950.1, BC063584.1 and AJ245433.1.
            
            On May 17, 2019 this sequence version replaced NM_021184.3.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AJ245433.1, SRR1660803.89940.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375911.2/ ENSP00000365076.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL662899.5         3114-3119           c
            7-1032              BC012950.1         1-1026
            1033-2010           BC063584.1         995-1972
            2011-2449           BC012950.1         2005-2443
            2450-2481           AJ245433.1         2403-2434
FEATURES             Location/Qualifiers
     source          1..2481
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2481
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
                     /note="chromosome 6 open reading frame 47"
                     /db_xref="GeneID:57827"
                     /db_xref="HGNC:HGNC:19076"
     exon            1..2481
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
                     /inference="alignment:Splign:2.1.0"
     CDS             832..1716
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
                     /note="protein G4"
                     /codon_start=1
                     /product="uncharacterized protein C6orf47"
                     /protein_id="NP_067007.3"
                     /db_xref="CCDS:CCDS34399.1"
                     /db_xref="GeneID:57827"
                     /db_xref="HGNC:HGNC:19076"
                     /translation="MFLRRLGGWLPRPWGRRKPMRPDPPYPEPRRVDSSSENSGSDWD
                     SAPETMEDVGHPKTKDSGALRVSGAASEPSKEEPQVEQLGSKRMDSLKWDQPISSTQE
                     SGRLEAGGASPKLRWDHVDSGGTRRPGVSPEGGLSVPGPGAPLEKPGRREKLLGWLRG
                     EPGAPSRYLGGPEECLQISTNLTLHLLELLASALLALCSRPLRAALDTLGLRGPLGLW
                     LHGLLSFLAALHGLHAVLSLLTAHPLHFACLFGLLQALVLAVSLREPNGDEAATDWES
                     EGLEREGEEQRGDPGKGL"
     regulatory      2396..2401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
                     /note="hexamer: AATAAA"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
                     /note="hexamer: AATATA"
     polyA_site      2446
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
                     /note="major polyA site"
     polyA_site      2456
                     /gene="C6orf47"
                     /gene_synonym="D6S53E; G4; NG34"
ORIGIN      
        1 agtcctggtg cagctgcttc cgggcttcgc ggctcccggc ggctccccaa ggccgcggcc
       61 ccgacgctgg gcccgggagc ggtccccgcg cacagcgccc ggacgcgtag gtcccgaagt
      121 aggcccgcgc tttgcttcgt aactggggat ctctgaggac atcttagttc tgaccttgtg
      181 gaggccgcgt ctctgctgcg tgttcgcggg ccagtcgggc cactttgtag aaatcatagc
      241 cctctaaatc aagggacgaa cgctgctggc tggagtttgc tggacacttt cattccacct
      301 cctaacaaag agaattccta ttccttgagg tcccttgggg cagcagttaa agactacacg
      361 atccaggagc acctaggacc tggggccacc ttcctgcccg ctttattgga tggagcactg
      421 cctccccagt ttctgggaca ccttggggtg tggccttggt gagtgaaact tggggtgctg
      481 cctgctggga aggaaatccg gaaacgcaga gaggactctc tggtggtgac ccaggccttg
      541 tcagatctga gattcttgga atctcagatt gtgggggtgt ggatggtgaa tgaatttggg
      601 tatgcccccc tttaccccag aactgaagag gaagcaaact acttgccaca cttgaggctg
      661 catgactatt cagagaaggg aggagccact tctgaattca gagtaggact gcatcaccag
      721 gcaaatacct gttctgagcc agaaagactc tggcttctga ggagatcctg agagtctgag
      781 tagtgccagg aagcagcctc agaatttggg ggcccattac acaccccagc catgttcctg
      841 cgacggcttg gtggctggct acctcgccct tggggccgcc ggaaaccaat gaggcctgac
      901 ccgccttacc cagaacccag acgggtggac agctcctcgg agaattcagg aagtgactgg
      961 gatagtgccc cagaaaccat ggaagatgtg gggcatccca agactaagga ctcgggggca
     1021 ttgagggttt ctggggctgc ttccgaacca agcaaggagg agccccaagt tgagcagcta
     1081 gggagcaaaa gaatggattc cctcaagtgg gaccagccta tctctagcac tcaagagtct
     1141 gggagactgg aggctggagg ggccagtccc aaactcagat gggatcatgt ggattcaggt
     1201 ggcaccagga gaccaggggt gtcccctgaa gggggactga gcgtccctgg gccaggagcc
     1261 ccattggaga aacctggtag gcgtgagaag ctgttgggct ggctgcgggg ggaaccagga
     1321 gctccctccc ggtacttggg gggcccagaa gagtgtctgc agatctccac caacctgacc
     1381 ctgcatcttc tggagctgct ggcctctgcc ctgctggccc tgtgctcacg accactgcgg
     1441 gcagccttgg acacactggg cctgcgtgga ccgctgggcc tctggctaca tggcctactg
     1501 tccttcctgg ctgccctgca tgggctccat gctgttctga gcctacttac tgcccaccct
     1561 ttgcacttcg cctgcctctt tggtctcctg caggccttgg tgctggctgt cagcctccgg
     1621 gagcccaatg gggatgaggc ggccactgac tgggagagtg aggggttgga gagggaaggt
     1681 gaggagcaga ggggagaccc gggaaagggg ctgtgaccgt ggggtggggg caaagggtga
     1741 agagagtgtg ggctttagga gaaaagtgtg aggcatgacc caaattgtaa gcatagggac
     1801 ctcagggatg gggaagaaac ccgagtacga gggtgcaggg ccccccttca tacacaggag
     1861 agaacagaac tatttagggt gtttgtgttt atggacagtg agggcactgc tcttggattc
     1921 accagctgtt atttttgctt ttacttttct cccaccttca gttttttttt tttttccacc
     1981 tccacttttt aaaagcaaaa aaaaaaaaaa gtatgatggt ggtgaataaa gaccaaaggg
     2041 tcctctctac ctttgaaaac tctcctgggg tggaggagac cagggcagga tagacagacc
     2101 tctgcagtaa gagagtggtt gggaaaccca gggtgttcct tggatctcag gatctgagcc
     2161 atcgagggaa gagtggggct gctaggcaag tggattaggg ggtctggata gggccccaca
     2221 ggtgacaggg agcctgcagg gcggatctgg tgatcatggg agccagaggg agtggggaca
     2281 gtgcaggcag tattggcagg agggccagtg cagaagggct ggtagctcag gcagtgtggg
     2341 ggaagcactg aagcctgtag tccccacttg ggggctaggg gtttgctcac tcagcaataa
     2401 ataactgtgt cacatcaaat cctaaatata ccactacaaa gtgagagtta ctgccactct
     2461 gttcttactg acaccgtcca g
//
