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2025-05-09 17:31:26, GGRNA : RefSeq release 60 (20130726)
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 from NCBI Entrez Gene (20130726):
GeneID:92345 -> Molecular function: GO:0003723 [RNA binding] evidence: IDA
GeneID:92345 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:92345 -> Biological process: GO:0001522 [pseudouridine synthesis] evidence: IEA
GeneID:92345 -> Biological process: GO:0006364 [rRNA processing] evidence: IEA
GeneID:92345 -> Biological process: GO:0042254 [ribosome biogenesis] evidence: IDA
GeneID:92345 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:92345 -> Cellular component: GO:0005732 [small nucleolar ribonucleoprotein complex] evidence: IDA
GeneID:92345 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:92345 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
GeneID:92345 -> Cellular component: GO:0030054 [cell junction] evidence: IDA
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