Property Summary

NCBI Gene PubMed Count 14
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 8.5e-32
ependymoma -1.600 1.3e-07
group 3 medulloblastoma -2.500 5.8e-04
atypical teratoid / rhabdoid tumor -2.000 3.2e-07
glioblastoma -1.300 3.7e-02
medulloblastoma, large-cell -2.300 1.7e-04
pancreatic cancer 1.600 1.3e-05
adult high grade glioma -1.500 5.8e-03
lung adenocarcinoma 1.800 6.3e-06
spina bifida -1.041 3.7e-02

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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042109 2000 Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4.
9110174 1997 Large-scale concatenation cDNA sequencing.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8619474 1996 A "double adaptor" method for improved shotgun library construction.