Property Summary

NCBI Gene PubMed Count 26
PubMed Score 39.67
PubTator Score 46.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

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.
17928003 utations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia and further demonstrates genotype-phenotype correlations in SPG6
17420921 Observational study of gene-disease association. (HuGE Navigator)
17205300 Amino acid substitution mutations implicated in a family with autosomal dominant spastic paraplegia.
17166836 NIPA1 normally encodes a Mg2+ transporter and the loss-of function of NIPA1(SPG6) due to abnormal trafficking of the mutated protein provides the basis of the hereditary spastic paraplegia phenotype
16982806 quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales
15711826 novel missense substitution in a highly conserved NIPA1 residue (G106R) which further confirms a causative link between NIPA1 mutation and autosomal dominant hereditary spastic paraplegia
14508710 discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant hereditary spastic paraplegia
14508708 located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes

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.
18191948 2008 Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17928003 2008 Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
17420921 2007 The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
17205300 2007 NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
17166836 2007 NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
16982806 2006 Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16267846 2006 Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
15711826 2005 A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
15643603 2005 Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14508710 2003 NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
14508708 2003 Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
12805275 2003 Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8618696 1996 Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes.
7825577 1995 Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.