NIPA1

GENE INFORMATION

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Gene name

NIPA1 (HGNC Symbol)

Synonyms

MGC35570, SPG6

Description

non imprinted in Prader-Willi/Angelman syndrome 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

Chromosome

15 (Chromosome progress)

Cytoband

q11.2

Chromosome location (bp)

23043277 - 23100005

Ensembl

ENSG00000170113 (version 73.37)

Entrez gene

123606

UniProt

Q7RTP0 (UniProt - Evidence at protein level)

neXtProt

NX_Q7RTP0

Antibodypedia

NIPA1 antibodies
 

PROTEIN VIEW

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NIPA1-001
 
NIPA1-002
 
NIPA1-003
 
NIPA1-004
 
NIPA1-007
 
NIPA1-008
 
NIPA1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NIPA1-001 ENSP00000337452
ENST00000337435
Q7RTP0
Show all »
Show » Show » 329 34.6 Yes 9
NIPA1-002 ENSP00000453286
ENST00000559448
Show » Show » 90 9.5 No 2
NIPA1-003 ENSP00000453722
ENST00000561183
Q7RTP0
Show all »
Show » Show » 254 27.3 No 7
NIPA1-004 ENSP00000393962
ENST00000437912
Q7RTP0
Show all »
Show » Show » 254 27.3 No 7
NIPA1-007 ENSP00000453797
ENST00000557930
H0YMY7
Show all »
Show » Show » 58 6.2 No 2
NIPA1-008 ENSP00000453237
ENST00000560069
H0YLJ9
Show all »
Show » Show » 35 3.5 No 0
NIPA1-201 ENSP00000440957
ENST00000538684
Q3SYP4
Show all »
Show » Show » 159 17.4 Yes 3