Entity Details

Primary name NIPA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7RTP0
EntryNameNIPA1_HUMAN
FullNameMagnesium transporter NIPA1
TaxID9606
Evidenceevidence at protein level
Length329
SequenceStatuscomplete
DateCreated2005-08-30
DateModified2021-06-02

Ontological Relatives

GenesNIPA1

GO terms

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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

Subcellular Location

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Subcellular Location
Cell membrane
Early endosome

Domains

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DomainNameCategoryType
IPR008521 Magnesium transporter NIPAFamilyFamily

Diseases

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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

4 interactions

InteractorPartnerSourcesPublicationsLink
NIPA1_HUMANSELM_HUMANBioGRID, IntAct32296183 details
NIPA1_HUMANCC167_HUMANBioGRID, IntAct32296183 details
NIPA1_HUMANSMO_HUMANBioGRID, MINT28298427 details
NIPA1_HUMANCREB3_HUMANIntAct31515488 details