Property Summary

NCBI Gene PubMed Count 31
Grant Count 12
R01 Count 9
Funding $1,320,918.78
PubMed Score 36.34
PubTator Score 22.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.093 0.003
osteosarcoma -1.691 0.000
acute quadriplegic myopathy 1.128 0.000
lung cancer 2.000 0.000
colon cancer 1.500 0.000
gastric carcinoma 1.400 0.016
ovarian cancer 2.200 0.000

Gene RIF (7)

PMID Text
26663071 Studies indicate that the causative mutation for spinocerebellar ataxias SCA36, namely intronic hexanucleotide GGCCTG expansion in NOP56 gene, has been identified.
22492559 This study demonistrated that NOP56 mutation is response spinocerebellar ataxia 36 in Spainish family.
22353375 We newly found intronic hexanucleotide GGCCTG gene expansion in NOP56 gene as the causative mutation in nine unrelated Japanese familial hereditary spinocerebellar ataxia patients
21683323 Expansion of the intronic GGCCTG hexanucleotide repeat in NOP56 causes a unique form of spinocerebellar ataxias, SCA36, which shows not only ataxia but also motor neuron dysfunction.
19620283 snoRNP assembly factor NUFIP can regulate the interactions between TIP48 and TIP49 and the core box C/D proteins.
19331828 Data demonstrate that fibrillarin and Nop56 directly interact in vivo, and that this interaction is indispensable for the association of both proteins with the box C/D snoRNPs.
12777385 hNop56p functions in the early to middle stages of 60 S subunit synthesis in human cells and has functional similarities with treacle-associated ribonucleoproteins

AA Sequence

MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEG      1 - 70
VVHEDLRLLLETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLS     71 - 140
ACKAQLGLGHSYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATY    141 - 210
CRLAQFIGNRRELNEDKLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQS    211 - 280
LHTYLRSKMSQVAPSLSALIGEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGL    281 - 350
IFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDV    351 - 420
MKEAMVQAEEAAAEITRKLEKQEKKRLKKEKKRLAALALASSENSSSTPEECEEMSEKPKKKKKQKPQEV    421 - 490
PQENGMEDPSISFSKPKKKKSFSKEELMSSDLEETAGSTSIPKRKKSTPKEETVNDPEEAGHRSGSKKKR    491 - 560
KFSKEEPVSSGPEEAVGKSSSKKKKKFHKASQED                                        561 - 594
//

Text Mined References (43)

PMID Year Title
26663071 2015 [Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
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