LOCUS       NM_032490               1125 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens GON7 subunit of KEOPS complex (GON7), mRNA.
ACCESSION   NM_032490
VERSION     NM_032490.5
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 1125)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1125)
  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   3  (bases 1 to 1125)
  AUTHORS   Arrondel,C., Missoury,S., Snoek,R., Patat,J., Menara,G.,
            Collinet,B., Liger,D., Durand,D., Gribouval,O., Boyer,O.,
            Buscara,L., Martin,G., Machuca,E., Nevo,F., Lescop,E., Braun,D.A.,
            Boschat,A.C., Sanquer,S., Guerrera,I.C., Revy,P., Parisot,M.,
            Masson,C., Boddaert,N., Charbit,M., Decramer,S., Novo,R.,
            Macher,M.A., Ranchin,B., Bacchetta,J., Laurent,A.,
            Collardeau-Frachon,S., van Eerde,A.M., Hildebrandt,F., Magen,D.,
            Antignac,C., van Tilbeurgh,H. and Mollet,G.
  TITLE     Defects in t6A tRNA modification due to GON7 and YRDC mutations
            lead to Galloway-Mowat syndrome
  JOURNAL   Nat Commun 10 (1), 3967 (2019)
   PUBMED   31481669
  REMARK    GeneRIF: Mutations in GON7, encoding the fifth KEOPS subunit, lead
            to a milder form of Galloway-Mowat syndrome (GAMOS), an autosomal
            recessive disease characterized by early-onset steroid-resistant
            nephrotic syndrome and microcephaly. The structure and cellular
            characterization of GON7 suggest its involvement in the cellular
            stability and quaternary arrangement of the KEOPS complex.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1125)
  AUTHORS   Wan,L.C., Maisonneuve,P., Szilard,R.K., Lambert,J.P., Ng,T.F.,
            Manczyk,N., Huang,H., Laister,R., Caudy,A.A., Gingras,A.C.,
            Durocher,D. and Sicheri,F.
  TITLE     Proteomic analysis of the human KEOPS complex identifies C14ORF142
            as a core subunit homologous to yeast Gon7
  JOURNAL   Nucleic Acids Res 45 (2), 805-817 (2017)
   PUBMED   27903914
REFERENCE   5  (bases 1 to 1125)
  AUTHORS   Costessi,A., Mahrour,N., Sharma,V., Stunnenberg,R., Stoel,M.A.,
            Tijchon,E., Conaway,J.W., Conaway,R.C. and Stunnenberg,H.G.
  TITLE     The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin
            ligases by the human tumour antigen PRAME
  JOURNAL   PLoS One 7 (8), e42822 (2012)
   PUBMED   22912744
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC021733.2 and AL110118.7.
            
            On Nov 23, 2018 this sequence version replaced NM_032490.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC065216.1, BG503923.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306954.5/ ENSP00000306320.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-812               BC021733.2         30-841
            813-813             AL110118.7         19588-19588
            814-1125            BC021733.2         843-1154
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     gene            1..1125
                     /gene="GON7"
                     /gene_synonym="C14orf142; PNAS-127"
                     /note="GON7 subunit of KEOPS complex"
                     /db_xref="GeneID:84520"
                     /db_xref="HGNC:HGNC:20356"
                     /db_xref="MIM:617436"
     exon            1..236
                     /gene="GON7"
                     /gene_synonym="C14orf142; PNAS-127"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..331
                     /gene="GON7"
                     /gene_synonym="C14orf142; PNAS-127"
                     /note="uncharacterized protein C14orf142; GON7, KEOPS
                     complex subunit homolog"
                     /codon_start=1
                     /product="EKC/KEOPS complex subunit GON7"
                     /protein_id="NP_115879.2"
                     /db_xref="CCDS:CCDS41981.1"
                     /db_xref="GeneID:84520"
                     /db_xref="HGNC:HGNC:20356"
                     /db_xref="MIM:617436"
                     /translation="MELLGEYVGQEGKPQKLRVSCEAPGDGDPFQGLLSGVAQMKDMV
                     TELFDPLVQGEVQHRVAAAPDEDLDGDDEDDAEDENNIDNRTNFDGPSAKRPKTPS"
     exon            237..1125
                     /gene="GON7"
                     /gene_synonym="C14orf142; PNAS-127"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1107..1112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GON7"
                     /gene_synonym="C14orf142; PNAS-127"
                     /note="hexamer: AATATA"
     polyA_site      1125
                     /gene="GON7"
                     /gene_synonym="C14orf142; PNAS-127"
                     /note="major polyA site"
ORIGIN      
        1 gtcgtgttct ggaagcttag cggtcaccat ggagctgctg ggagagtacg tcgggcagga
       61 agggaagccg cagaagctgc gggtgtcctg tgaggcgccg ggtgacggcg accctttcca
      121 gggcctgttg tctggcgtgg cccagatgaa ggacatggta acggaattat tcgaccctct
      181 ggtacagggg gaagtgcagc accgggtggc ggcggctcca gacgaggact tggacggtga
      241 tgatgaagat gatgcagaag atgaaaataa cattgataac agaactaact tcgatggacc
      301 atctgcaaaa cggccaaaaa caccgtctta acaatagcct tcatgacatt taaaagatgg
      361 ctgttgtatc cttattgtca cactaggaca tttaaggaag acttatgctc taatttggaa
      421 aaagcatttg tgttgttctc ctgggacaat tttgtcaaag agaaaactgg tttttctgtt
      481 tctagcaaag atagtaaagg cttagaaata aaatctgttt tcttgagaaa taaatttcag
      541 accctggaag gaaaatagaa cacttcataa tgtataaaat cctctaagtt ggcaactgaa
      601 tttttatcat tgttttctat ttttaaaata atcattgatt tgtgtgatgt ctacatcttt
      661 taacttctgg ttctgttata aagagtacat gtcacggttc ataggcagta acatttcaga
      721 gaactgacat gaacaagtag tgaaaattgg gcattaaata taaaaataac agttcttcat
      781 aaacagaagg aaaataagga aatagaaata ccgacgagaa aggagagtcc ttgaaagaga
      841 cccaaggaaa ccctgaattc atacccacgt caaatatgca catatcctga gatgatgcca
      901 ctttgatgaa tgtgcattag tctgatttat catgtacctt aagagagcca gatggggtat
      961 gtttttgtgc tgtgatatgg tatttataca ggtacaaata taaggcctta agtaaacaat
     1021 ctgcattgat tacaatttgg atatttcctc tcctcctgta gccatacttt gattttgctt
     1081 taaaaagatt attgaatcct tttaaaaata tatattccta aaata
//
