LOCUS       NM_138386               1876 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens nuclear assembly factor 1 ribonucleoprotein (NAF1),
            transcript variant 1, mRNA.
ACCESSION   NM_138386
VERSION     NM_138386.3
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 1876)
  AUTHORS   Chen,X., Hao,Z., Pan,H., Liu,W., Lu,L., Zhang,M., He,X., Yi,H. and
            Tang,S.
  TITLE     Relationship between common telomere length-related genetic
            variations, telomere length, and risk of antituberculosis
            drug-induced hepatotoxicity in Chinese Han population: As assessed
            for causality using the updated Roussel Uclaf Causality Assessment
            Method
  JOURNAL   Fundam Clin Pharmacol 37 (4), 858-867 (2023)
   PUBMED   36855016
  REMARK    GeneRIF: Relationship between common telomere length-related
            genetic variations, telomere length, and risk of antituberculosis
            drug-induced hepatotoxicity in Chinese Han population: As assessed
            for causality using the updated Roussel Uclaf Causality Assessment
            Method.
REFERENCE   2  (bases 1 to 1876)
  AUTHORS   Olsson,J.B., Gugerel,M.B., Jessen,S.B., Jorgensen,J., Gogenur,I.,
            Hansen,C., Kirkeby,L.T., Olsen,J., Pedersen,O.B.V., Vestlev,P.M.,
            Dahlgaard,K. and Troelsen,J.T.
  TITLE     Colorectal cancer-associated SNP rs17042479 is involved in the
            regulation of NAF1 promoter activity
  JOURNAL   PLoS One 17 (9), e0274033 (2022)
   PUBMED   36067202
  REMARK    GeneRIF: Colorectal cancer-associated SNP rs17042479 is involved in
            the regulation of NAF1 promoter activity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1876)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 1876)
  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   5  (bases 1 to 1876)
  AUTHORS   Kittur,N., Darzacq,X., Roy,S., Singer,R.H. and Meier,U.T.
  TITLE     Dynamic association and localization of human H/ACA RNP proteins
  JOURNAL   RNA 12 (12), 2057-2062 (2006)
   PUBMED   17135485
REFERENCE   6  (bases 1 to 1876)
  AUTHORS   Hoareau-Aveilla,C., Bonoli,M., Caizergues-Ferrer,M. and Henry,Y.
  TITLE     hNaf1 is required for accumulation of human box H/ACA snoRNPs,
            scaRNPs, and telomerase
  JOURNAL   RNA 12 (5), 832-840 (2006)
   PUBMED   16601202
REFERENCE   7  (bases 1 to 1876)
  AUTHORS   Darzacq,X., Kittur,N., Roy,S., Shav-Tal,Y., Singer,R.H. and
            Meier,U.T.
  TITLE     Stepwise RNP assembly at the site of H/ACA RNA transcription in
            human cells
  JOURNAL   J Cell Biol 173 (2), 207-218 (2006)
   PUBMED   16618814
REFERENCE   8  (bases 1 to 1876)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (bases 1 to 1876)
  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
REFERENCE   10 (bases 1 to 1876)
  AUTHORS   Garcia,C.K. and Talbert,J.L.
  TITLE     Pulmonary Fibrosis Predisposition Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301408
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008207.1 and AK308601.1.
            
            On Nov 22, 2018 this sequence version replaced NM_138386.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC008207.1, SRR13170464.1289734.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274054.3/ ENSP00000274054.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                BC008207.1         32-119
            89-1196             AK308601.1         89-1196
            1197-1711           BC008207.1         1228-1742
            1712-1876           BC008207.1         1744-1908
FEATURES             Location/Qualifiers
     source          1..1876
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.2"
     gene            1..1876
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /note="nuclear assembly factor 1 ribonucleoprotein"
                     /db_xref="GeneID:92345"
                     /db_xref="HGNC:HGNC:25126"
                     /db_xref="MIM:617868"
     exon            1..528
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..1648
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /note="isoform a is encoded by transcript variant 1; h/ACA
                     ribonucleoprotein complex non-core subunit NAF1; nuclear
                     assembly factor 1 homolog"
                     /codon_start=1
                     /product="H/ACA ribonucleoprotein complex non-core subunit
                     NAF1 isoform a"
                     /protein_id="NP_612395.2"
                     /db_xref="CCDS:CCDS3803.1"
                     /db_xref="GeneID:92345"
                     /db_xref="HGNC:HGNC:25126"
                     /db_xref="MIM:617868"
                     /translation="MEVVEAAAAQLETLKFNGTDFGVGEGPAAPSPGSAPVPGTQPPL
                     QSFEGSPDAGQTVEVKPAGEQPLQPVLNAVAAGTPAPQPQPPAESPACGDCVTSPGAA
                     EPARAPDSLETSDSDSDSDSETDSDSSSSSSSSSSSSSSSSSSCISLPPVLSDGDDDL
                     QIEKENKNFPLKTKDELLLNELPSVEELTIILPEDIELKPLGMVSSIIEQLVIIESMT
                     NLPPVNEETVIFKSDRQAAGKIFEIFGPVAHPFYVLRFNSSDHIESKGIKIKETMYFA
                     PSMKDFTQYIFTEKLKQDKGSDASWKNDQEPPPEALDFSDDEKEKEAKQRKKSQIQGR
                     KKLKSEFNEPGEDFTEVHQNWNAHSSASEHAKGYRNREFTRGFSRARYPRSCHGRPPP
                     QHFYNSEHMVSQETSGFPSQRQNNPIMPQYPFPLPVFDMHNFPLRPPPPPPPPPVNMG
                     WATPNMAAHPLLNLPYSLPPPPPPPPLPPPPSSGDSNSHFGPYY"
     exon            529..703
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     exon            704..797
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     exon            798..880
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1041
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1093
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1196
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1876
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1850..1855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /note="hexamer: ATTAAA"
     polyA_site      1876
                     /gene="NAF1"
                     /gene_synonym="PFBMFT7"
                     /note="major polyA site"
ORIGIN      
        1 gtgtcttttg gctcctccgc gtgtagttac ctgagaaacg cgggaagttg ggcccaggca
       61 gtgttgctgc ggttgcctaa gttgtttttc tatttctgga gagagccgtg agcttgtcca
      121 ggggccccaa tcctgaggcc gacccggttt ctggcgcggt gcgatggagg tagtggaggc
      181 cgccgccgct cagctggaaa ctctgaaatt caatggcacc gactttggag ttggggaagg
      241 tccggcggct ccgtctccgg gctctgcccc tgtgccaggg acacagccgc cgctacagtc
      301 gtttgagggg tccccggacg ctgggcagac cgtggaggtt aagcctgccg gggagcagcc
      361 tctgcagccc gttctgaacg ccgtcgcggc cgggaccccg gcgccgcagc cacagccacc
      421 ggctgaatcg ccggcctgcg gagactgcgt cacctcccca ggagccgcag agcctgcgcg
      481 ggcgccggac tccttggaga cctcggactc ggattcggac tcggacagtg aaacagattc
      541 agatagttca agttcatcgt cttcctcttc atcttcctca tcgtcgtctt cttcctcttg
      601 tatatcactt cctccagtgc tgtcagatgg agatgatgat ttacaaattg agaaggaaaa
      661 taagaatttt cctcttaaaa caaaagatga attacttctt aatgaactgc cttctgttga
      721 agaactcact attattctgc ctgaagatat tgagttaaag cctcttggga tggtttcaag
      781 tattattgaa caactagtaa taattgaatc tatgactaac ctacctccag ttaatgagga
      841 gactgtaatt tttaaaagtg atcgacaagc agcaggaaag atattcgaga tatttggacc
      901 tgttgcacat ccattttatg tgttacggtt taattcttca gatcacattg agagtaaagg
      961 tattaaaata aaggagacta tgtattttgc tccatcaatg aaagatttca ctcaatatat
     1021 attcacagaa aaactaaaac aggataaggg atcagatgca tcatggaaga atgatcagga
     1081 accaccacca gaggccttag attttagtga tgatgaaaaa gagaaggaag ccaaacagag
     1141 gaaaaaatct cagattcaag gccggaaaaa actcaaatct gaatttaatg agcctggtga
     1201 agattttact gaagtacatc agaattggaa tgctcatagc tctgcttcag agcatgcaaa
     1261 aggatatcgt aacagagaat tcacacgagg attttccagg gccagatacc ctcgatcttg
     1321 ccatggcagg cctccacctc agcatttcta taactcagaa catatggtat ctcaggagac
     1381 ttcaggattt ccttctcaga gacaaaataa tcccattatg ccacaatacc cctttcctct
     1441 tccagtgttt gacatgcata attttcccct ccgccctcca cccccaccac cacccccacc
     1501 tgtaaacatg ggttgggcta caccaaacat ggctgctcat ccattactta acttaccata
     1561 ctccctaccc ccaccccctc cccctccacc actgcctcct ccaccctctt ctggagatag
     1621 taattctcat tttggacctt actattaggt gactatgcat ttccagagaa atgtggactt
     1681 ttcatattat gtggtaagga tttttttttt tcaagagtga ttatggagct agatttttaa
     1741 aaacactgta aaatactaaa tgattccttc tgttgtaagt tgatatatat ttgtaacctt
     1801 tgtgaaattg tattcatatg aaaatgtcag ctcaaattct tgggagaaca ttaaattatg
     1861 taatatttaa ttaaaa
//
