LOCUS       NM_017838                780 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NHP2 ribonucleoprotein (NHP2), transcript variant 1,
            mRNA.
ACCESSION   NM_017838
VERSION     NM_017838.4
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 780)
  AUTHORS   Liu,L., Sheng,Y., Wang,C.Y., Liu,X., Guo,T., Peng,H., Luo,H. and
            Fan,L.L.
  TITLE     A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary
            fibrosis and lung carcinoma chronic obstructive lung disease by
            disrupting the expression and nucleocytoplasmic localization of
            NHP2
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1869 (5), 166692 (2023)
   PUBMED   36933847
  REMARK    GeneRIF: A novel mutation (p.Y24N) in NHP2 leads to idiopathic
            pulmonary fibrosis and lung carcinoma chronic obstructive lung
            disease by disrupting the expression and nucleocytoplasmic
            localization of NHP2.
REFERENCE   2  (bases 1 to 780)
  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   3  (bases 1 to 780)
  AUTHORS   Raghunandan,M., Geelen,D., Majerova,E. and Decottignies,A.
  TITLE     NHP2 downregulation counteracts hTR-mediated activation of the DNA
            damage response at ALT telomeres
  JOURNAL   EMBO J 40 (6), e106336 (2021)
   PUBMED   33595114
  REMARK    GeneRIF: NHP2 downregulation counteracts hTR-mediated activation of
            the DNA damage response at ALT telomeres.
REFERENCE   4  (bases 1 to 780)
  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   5  (bases 1 to 780)
  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   6  (bases 1 to 780)
  AUTHORS   Kang,H.S., Jung,H.M., Jun,D.Y., Huh,T.L. and Kim,Y.H.
  TITLE     Expression of the human homologue of the small nucleolar
            RNA-binding protein NHP2 gene during monocytic differentiation of
            U937 cells
  JOURNAL   Biochim Biophys Acta 1575 (1-3), 31-39 (2002)
   PUBMED   12020816
REFERENCE   7  (bases 1 to 780)
  AUTHORS   Andersen,J.S., Lyon,C.E., Fox,A.H., Leung,A.K., Lam,Y.W., Steen,H.,
            Mann,M. and Lamond,A.I.
  TITLE     Directed proteomic analysis of the human nucleolus
  JOURNAL   Curr Biol 12 (1), 1-11 (2002)
   PUBMED   11790298
REFERENCE   8  (bases 1 to 780)
  AUTHORS   Pogacic,V., Dragon,F. and Filipowicz,W.
  TITLE     Human H/ACA small nucleolar RNPs and telomerase share
            evolutionarily conserved proteins NHP2 and NOP10
  JOURNAL   Mol Cell Biol 20 (23), 9028-9040 (2000)
   PUBMED   11074001
REFERENCE   9  (bases 1 to 780)
  AUTHORS   Henras,A., Henry,Y., Bousquet-Antonelli,C., Noaillac-Depeyre,J.,
            Gelugne,J.P. and Caizergues-Ferrer,M.
  TITLE     Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs
  JOURNAL   EMBO J 17 (23), 7078-7090 (1998)
   PUBMED   9843512
REFERENCE   10 (bases 1 to 780)
  AUTHORS   Savage,S.A. and Niewisch,M.R.
  TITLE     Dyskeratosis Congenita and Related Telomere Biology Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301779
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE797477.1, BC000009.2 and
            AJ293309.1.
            
            On Dec 4, 2019 this sequence version replaced NM_017838.3.
            
            Summary: This gene is a member of the H/ACA snoRNPs (small
            nucleolar ribonucleoproteins) gene family. snoRNPs are involved in
            various aspects of rRNA processing and modification and have been
            classified into two families: C/D and H/ACA. The H/ACA snoRNPs also
            include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP
            proteins localize to the dense fibrillar components of nucleoli and
            to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production
            and rRNA pseudouridylation are impaired if any one of the four
            proteins is depleted. The four H/ACA snoRNP proteins are also
            components of the telomerase complex. This gene encodes a protein
            related to Saccharomyces cerevisiae Nhp2p. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Oct
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC006387.2, AK000486.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274606.8/ ENSP00000274606.4
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-598               BE797477.1         96-693
            599-776             BC000009.2         582-759
            777-780             AJ293309.1         776-779
FEATURES             Location/Qualifiers
     source          1..780
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..780
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /note="NHP2 ribonucleoprotein"
                     /db_xref="GeneID:55651"
                     /db_xref="HGNC:HGNC:14377"
                     /db_xref="MIM:606470"
     exon            1..228
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..530
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /note="isoform a is encoded by transcript variant 1;
                     nucleolar protein family A, member 2 (H/ACA small
                     nucleolar RNPs); h/ACA ribonucleoprotein complex subunit
                     2; NHP2-like protein; snoRNP protein NHP2; NHP2
                     ribonucleoprotein homolog"
                     /codon_start=1
                     /product="H/ACA ribonucleoprotein complex subunit 2
                     isoform a"
                     /protein_id="NP_060308.1"
                     /db_xref="CCDS:CCDS4432.1"
                     /db_xref="GeneID:55651"
                     /db_xref="HGNC:HGNC:14377"
                     /db_xref="MIM:606470"
                     /translation="MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLT
                     RKLYKCIKKAVKQKQIRRGVKEVQKFVNKGEKGIMVLAGDTLPIEVYCHLPVMCEDRN
                     LPYVYIPSKTDLGAAAGSKRPTCVIMVKPHEEYQEAYDECLEEVQSLPLPL"
     exon            229..298
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /inference="alignment:Splign:2.1.0"
     exon            299..404
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /inference="alignment:Splign:2.1.0"
     exon            405..780
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      761..766
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /note="hexamer: AGTAAA"
     polyA_site      780
                     /gene="NHP2"
                     /gene_synonym="DKCB2; NHP2P; NOLA2"
                     /note="major polyA site"
ORIGIN      
        1 aagtgatgcc taaagctgtg gaccgcgtgg gctcgcctcc ctgggactag gtttcagcgg
       61 ccgctgcgat gaccaaaata aaggcagatc ccgacgggcc cgaggctcag gcggaggcgt
      121 gttccgggga gcgcacctac caggagctgc tggtcaacca gaaccccatc gcgcagcccc
      181 tggcttctcg ccgcctcacg cggaagctct acaaatgcat caagaaagcg gtgaagcaga
      241 agcagattcg gcgcggggtg aaagaggttc agaaatttgt caacaaagga gaaaaaggga
      301 tcatggtttt ggcaggagac acactgccca ttgaggtata ctgccatctc ccagtcatgt
      361 gtgaggaccg aaatttgccc tatgtctata tcccctctaa gacggacctg ggtgcagccg
      421 caggctccaa gcgccccacc tgtgtgataa tggtcaagcc ccatgaggag taccaggagg
      481 cttacgatga gtgcctggag gaggtgcagt ccctgcccct acccctatga ggggctccgg
      541 tagcacctgg gcacctgccg ctggaagcta ttgggctggc agcaggacga ctggctgtcc
      601 tcctgcccac ccacactgac ggcatcttcc cagttcccca aggcacgcct tcttcccagg
      661 cagctctaac agccctttca tgaaggtaat gctagtcttc tgtccatcag tgccatttcc
      721 tgtagaacta aaggctgttc caagaatgtg gggtggggaa agtaaatgct aagactaaaa
//
