Homo sapiens Gene: NIPA1
Summary
InnateDB Gene IDBG-4011.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NIPA1
Gene Name non imprinted in Prader-Willi/Angelman syndrome 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000170113
Encoded Proteins
non imprinted in Prader-Willi/Angelman syndrome 1
non imprinted in Prader-Willi/Angelman syndrome 1
non imprinted in Prader-Willi/Angelman syndrome 1
non imprinted in Prader-Willi/Angelman syndrome 1
non imprinted in Prader-Willi/Angelman syndrome 1
non imprinted in Prader-Willi/Angelman syndrome 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:22773063-22829791
Strand Forward strand
Band q11.2
Transcripts
ENST00000337435 ENSP00000337452
ENST00000437912 ENSP00000393962
ENST00000559448 ENSP00000453286
ENST00000561183 ENSP00000453722
ENST00000557930 ENSP00000453797
ENST00000560069 ENSP00000453237
ENST00000560105
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0015095 magnesium ion transmembrane transporter activity
Biological Process
GO:0008219 cell death
GO:0015693 magnesium ion transport
Cellular Component
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.511797 Hs.621742
RefSeq NM_001142275 NM_144599
HUGO
OMIM
CCDS CCDS73691 CCDS73692
HPRD 10487
IMGT
EMBL
GenPept
RNA Seq Atlas