GGRNA | NM_138386.2

LOCUS       NM_138386               1918 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens nuclear assembly factor 1 ribonucleoprotein (NAF1),
            transcript variant 1, mRNA.
ACCESSION   NM_138386
VERSION     NM_138386.2  GI:193083156
KEYWORDS    RefSeq.
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 1918)
  AUTHORS   Kim,H.Y., Cho,S., Yu,J., Sung,S. and Kim,H.
  TITLE     Analysis of copy number variation in 8,842 Korean individuals
            reveals 39 genes associated with hepatic biomarkers AST and ALT
  JOURNAL   BMB Rep 43 (8), 547-553 (2010)
   PUBMED   20797317
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   2  (bases 1 to 1918)
  AUTHORS   Chang,N.C., Nguyen,M., Germain,M. and Shore,G.C.
  TITLE     Antagonism of Beclin 1-dependent autophagy by BCL-2 at the
            endoplasmic reticulum requires NAF-1
  JOURNAL   EMBO J. 29 (3), 606-618 (2010)
   PUBMED   20010695
  REMARK    GeneRIF: NAF-1 is a BCL-2-associated co-factor that targets BCL-2
            for antagonism of the autophagy pathway at the endoplasmic
            reticulum.
REFERENCE   3  (bases 1 to 1918)
  AUTHORS   Medland,S.E., Nyholt,D.R., Painter,J.N., McEvoy,B.P., McRae,A.F.,
            Zhu,G., Gordon,S.D., Ferreira,M.A., Wright,M.J., Henders,A.K.,
            Campbell,M.J., Duffy,D.L., Hansell,N.K., Macgregor,S.,
            Slutske,W.S., Heath,A.C., Montgomery,G.W. and Martin,N.G.
  TITLE     Common variants in the trichohyalin gene are associated with
            straight hair in Europeans
  JOURNAL   Am. J. Hum. Genet. 85 (5), 750-755 (2009)
   PUBMED   19896111
REFERENCE   4  (bases 1 to 1918)
  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   5  (bases 1 to 1918)
  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   6  (bases 1 to 1918)
  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   7  (bases 1 to 1918)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008207.1 and AK308601.1.
            On Jun 27, 2008 this sequence version replaced gi:19923910.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (A).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008207.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025083 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               BC008207.1         1-119
            120-1227            AK308601.1         89-1196
            1228-1742           BC008207.1         1228-1742
            1743-1918           BC008207.1         1744-1919
FEATURES             Location/Qualifiers
     source          1..1918
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.2"
     gene            1..1918
                     /gene="NAF1"
                     /note="nuclear assembly factor 1 ribonucleoprotein"
                     /db_xref="GeneID:92345"
                     /db_xref="HGNC:25126"
     exon            1..559
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     variation       23
                     /gene="NAF1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3822304"
     variation       120
                     /gene="NAF1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:936562"
     misc_feature    165..167
                     /gene="NAF1"
                     /note="upstream in-frame stop codon"
     CDS             195..1679
                     /gene="NAF1"
                     /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="GI:193083157"
                     /db_xref="CCDS:CCDS3803.1"
                     /db_xref="GeneID:92345"
                     /db_xref="HGNC:25126"
                     /translation="

MEVVEAAAAQLETLKFNGTDFGVGEGPAAPSPGSAPVPGTQPPLQSFEGSPDAGQTVEVKPAGEQPLQPVLNAVAAGTPAPQPQPPAESPACGDCVTSPGAAEPARAPDSLETSDSDSDSDSETDSDSSSSSSSSSSSSSSSSSSCISLPPVLSDGDDDLQIEKENKNFPLKTKDELLLNELPSVEELTIILPEDIELKPLGMVSSIIEQLVIIESMTNLPPVNEETVIFKSDRQAAGKIFEIFGPVAHPFYVLRFNSSDHIESKGIKIKETMYFAPSMKDFTQYIFTEKLKQDKGSDASWKNDQEPPPEALDFSDDEKEKEAKQRKKSQIQGRKKLKSEFNEPGEDFTEVHQNWNAHSSASEHAKGYRNREFTRGFSRARYPRSCHGRPPPQHFYNSEHMVSQETSGFPSQRQNNPIMPQYPFPLPVFDMHNFPLRPPPPPPPPPVNMGWATPNMAAHPLLNLPYSLPPPPPPPPLPPPPSSGDSNSHFGPYY

"
     misc_feature    720..1184
                     /gene="NAF1"
                     /note="Gar1/Naf1 RNA binding region; Region: Gar1;
                     pfam04410"
                     /db_xref="CDD:190975"
     misc_feature    1137..1139
                     /gene="NAF1"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
                     (Q96HR8.2); phosphorylation site"
     variation       460
                     /gene="NAF1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35063973"
     variation       497
                     /gene="NAF1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35410130"
     exon            560..734
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     variation       633
                     /gene="NAF1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34283388"
     exon            735..828
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     exon            829..911
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     exon            912..1072
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     exon            1073..1124
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     exon            1125..1227
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     exon            1228..1907
                     /gene="NAF1"
                     /inference="alignment:Splign:1.39.8"
     variation       1812
                     /gene="NAF1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1061075"
ORIGIN

cggaaagcgttgctgcgtaaatggcgggggcgtgtcttttggctcctccgcgtgtagttacctgagaaacgcgggaagttgggcccaggcagtgttgctgcggttgcctaagttgtttttctatttctggagagagccgtgagcttgtccaggggccccaatcctgaggccgacccggtttctggcgcggtgcgatggaggtagtggaggccgccgccgctcagctggaaactctgaaattcaatggcaccgactttggagttggggaaggtccggcggctccgtctccgggctctgcccctgtgccagggacacagccgccgctacagtcgtttgaggggtccccggacgctgggcagaccgtggaggttaagcctgccggggagcagcctctgcagcccgttctgaacgccgtcgcggccgggaccccggcgccgcagccacagccaccggctgaatcgccggcctgcggagactgcgtcacctccccaggagccgcagagcctgcgcgggcgccggactccttggagacctcggactcggattcggactcggacagtgaaacagattcagatagttcaagttcatcgtcttcctcttcatcttcctcatcgtcgtcttcttcctcttgtatatcacttcctccagtgctgtcagatggagatgatgatttacaaattgagaaggaaaataagaattttcctcttaaaacaaaagatgaattacttcttaatgaactgccttctgttgaagaactcactattattctgcctgaagatattgagttaaagcctcttgggatggtttcaagtattattgaacaactagtaataattgaatctatgactaacctacctccagttaatgaggagactgtaatttttaaaagtgatcgacaagcagcaggaaagatattcgagatatttggacctgttgcacatccattttatgtgttacggtttaattcttcagatcacattgagagtaaaggtattaaaataaaggagactatgtattttgctccatcaatgaaagatttcactcaatatatattcacagaaaaactaaaacaggataagggatcagatgcatcatggaagaatgatcaggaaccaccaccagaggccttagattttagtgatgatgaaaaagagaaggaagccaaacagaggaaaaaatctcagattcaaggccggaaaaaactcaaatctgaatttaatgagcctggtgaagattttactgaagtacatcagaattggaatgctcatagctctgcttcagagcatgcaaaaggatatcgtaacagagaattcacacgaggattttccagggccagataccctcgatcttgccatggcaggcctccacctcagcatttctataactcagaacatatggtatctcaggagacttcaggatttccttctcagagacaaaataatcccattatgccacaatacccctttcctcttccagtgtttgacatgcataattttcccctccgccctccacccccaccaccacccccacctgtaaacatgggttgggctacaccaaacatggctgctcatccattacttaacttaccatactccctacccccaccccctccccctccaccactgcctcctccaccctcttctggagatagtaattctcattttggaccttactattaggtgactatgcatttccagagaaatgtggacttttcatattatgtggtaaggatttttttttttcaagagtgattatggagctagatttttaaaaacactgtaaaatactaaatgattccttctgttgtaagttgatatatatttgtaacctttgtgaaattgtattcatatgaaaatgtcagctcaaattcttgggagaacattaaattatgtaatatttaattaaaaaaaaaaaaaaa

//

Annotations: