Property Summary

NCBI Gene PubMed Count 14
Grant Count 33
R01 Count 25
Funding $2,856,776.1
PubMed Score 75.95
PubTator Score 608.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
psoriasis -1.300 0.000
ependymoma -1.600 0.000
group 3 medulloblastoma -2.500 0.001
atypical teratoid / rhabdoid tumor -2.000 0.000
glioblastoma -1.300 0.037
medulloblastoma, large-cell -2.300 0.000
pancreatic cancer 1.600 0.000
adult high grade glioma -1.500 0.006
lung adenocarcinoma 1.800 0.000
spina bifida -1.041 0.037

Gene RIF (5)

PMID Text
26876577 this study reveals a regulation mechanism of NEDD4-1 stability by O-GlcNAcylation.
23607545 we conclude that the RNA foci containing BEAN1-direction transcript (UGGAA)n are associated with Purkinje cell degeneration in Spinocerebellar ataxia type 31
22049201 This study describes the structure of SCA31 pentanucleotide repeat sequences in a cohort of Caucasian patients with spinocerebellar ataxia.
21163552 Our data indicate that SCA31 is absent or rare in the Chinese population on Taiwan.
19878914 SCA31 is associated with "inserted" pentanucleotide repeats containing (TGGAA)n.

AA Sequence

MSFKRPCPLARYNRTSYFYPTFSESSEHSHLLVSPVLVASAVIGVVIILSCITIIVGSIRRDRQARLQRH      1 - 70
RHRHHRHHHHHHHHRRRRHREYEHGYVSDEHTYSRSSRRMRYACSSSEDWPPPLDISSDGDVDATVLREL     71 - 140
YPDSPPGYEECVGPGATQLYVPTDAPPPYSLTDSCPTLDGTSDSGSGHSPGRHQQEQRTPAQGGLHTVSM    141 - 210
DTLPPYEAVCGAGPPSGLLPLPGPDPGPRGSQGSPTPTRAPASGPERIV                         211 - 259
//

Text Mined References (15)

PMID Year Title
26876577 2016 O-GlcNAc regulates NEDD4-1 stability via caspase-mediated pathway.
23607545 2013 Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)n in the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis.
22049201 2011 Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.
21921537 2010 [Spinocerebellar ataxia type 31].
21163552 2012 SCA31 is rare in the Chinese population on Taiwan.
20723845 2010 Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
19878914 2009 Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
More...