Property Summary

NCBI Gene PubMed Count 26
Grant Count 17
R01 Count 4
Funding $1,098,918.08
PubMed Score 39.67
PubTator Score 46.38

Knowledge Summary

Patent

No data available

Expression

Gene RIF (18)

PMID Text
25133278 We report here a family with a pure form of Hereditary spastic paraplegia due to a de novo transition mutation in the NIPA1 gene.
24075313 study reports direct evidence of de novo c.316G>A mutation in the same hotspot of the gene in two unrelated patients who had otherwise a prototypical NIPA1-associated phenotype with a severe form of uncomplicated spastic paraplegia
22378146 NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease course
21599812 Epilepsy might be more common in spastic paraplegia type 6 than in other forms of Hereditary spastic paraplegia because of a genetic risk factor closely linked to NIPA1.
21419568 One heterozygous missense mutation of NIPA1 was identified in a complicated form of hereditary spastic paraplegia type 6 family with peripheral nerves disease
20685689 a genome-wide association study of amyotrophic lateral sclerosis identified the NIPA1 locus as a candidate for more in-depth studies
20685689 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20398908 Observational study of gene-disease association. (HuGE Navigator)
19620182 The hereditary spastic paraplegia proteins NIPA1, spastin and spartin inhibit BMP signalling by promoting BMP receptors degradation.
19091982 We propose that Hereditary spastic paraplegia-associated mutations in NIPA1 lead to cellular and functional deficits through a gain-of-function mechanism supporting the endoplasmic reticulum accumulation of toxic NIPA1 proteins.
More...

AA Sequence

MGTAAAAAAAAAAAAAGEGARSPSPAAVSLGLGVAVVSSLVNGSTFVLQKKGIVRAKRRGTSYLTDIVWW      1 - 70
AGTIAMAVGQIGNFLAYTAVPTVLVTPLGALGVPFGSILASYLLKEKLNILGKLGCLLSCAGSVVLIIHS     71 - 140
PKSESVTTQAELEEKLTNPVFVGYLCIVLLMLLLLIFWIAPAHGPTNIMVYISICSLLGSFTVPSTKGIG    141 - 210
LAAQDILHNNPSSQRALCLCLVLLAVLGCSIIVQFRYINKALECFDSSVFGAIYYVVFTTLVLLASAILF    211 - 280
REWSNVGLVDFLGMACGFTTVSVGIVLIQVFKEFNFNLGEMNKSNMKTD                         281 - 329
//

Text Mined References (28)

PMID Year Title
25133278 2014 Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.
24075313 2013 Recurrent de novo c.316G>A mutation in NIPA1 hotspot.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22378146 2012 NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
21599812 2011 NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
21419568 2011 Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
20685689 2010 A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
20398908 2010 Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
19620182 2009 The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
19091982 2008 Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.
More...