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Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1)

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FSP3; SPG6; Magnesium transporter NIPA1; Spastic Paraplegia 6(Autosomal Dominant)

Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1)
CCC J961
HGNC 17043
MGI 2442058
PubMed 19091982
RGD 1305401
UniProt Q7RTP0
Wiki NIPA1
NIPA1encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.
The N-terminal polyalanine sequence in mouse is encoded by a (GCG)3-GCT-(GCG)3 sequence, and the transcript has 2 polyadenylation signals. Northern blot analysis detected transcripts of 1.9 and 7.5 kb in all mouse tissues examined, with enrichment in brain.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Polyclonal Antibody Customized Service Offer
Assay Kits SEJ961Hu ELISA Kit for Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Non Imprinted In Prader Willi/Angelman Syndrome Region Protein 1 (NIPA1) ELISA Kit Customized Service Offer
  1. "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."Am. J. Hum. Genet. 73:898-925(2003) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins."Genome Res. 13:1728-1736(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
  6. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  7. "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)."Am. J. Hum. Genet. 73:967-971(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families."Hum. Mutat. 25:135-141(2005) [PubMed] [Europe PMC] [Abstract]