Entity Details

Primary name NIPA1
Entity type gene
Source Source Link

Details

PrimaryID123606
RefseqGeneNG_009056
SymbolNIPA1
NameNIPA magnesium transporter 1
Chromosome15
Location15q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNIPA1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0015095 magnesium ion transmembrane transporter activity
GO:0015693 magnesium ion transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0055085 transmembrane transport

Diseases

Show/Hide Table
Disease IDSourceNameDescription
600363 OMIMSpastic paraplegia 6, autosomal dominant (SPG6)A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
NIPA1SELENOMBioGRID, IntAct32296183 details
NIPA1CCDC167BioGRID, IntAct32296183 details
NIPA1SMOBioGRID, MINT28298427 details
NIPA1CREB3IntAct31515488 details
NIPA1DDX58BioGRID32513696 details