InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NIPA1

Summary

InnateDB Protein

IDBP-4013.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NIPA1

Protein Name

non imprinted in Prader-Willi/Angelman syndrome 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000337452

InnateDB Gene

IDBG-4011 (NIPA1)

Protein Structure

UniProt Annotation

Function

Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Early endosome {ECO:0000250}. Note=Recruited to the cell membrane in response to low extracellular magnesium. {ECO:0000250}.

Disease Associations

Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]: 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. {ECO:0000269PubMed:14508710, ECO:0000269PubMed:15643603}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed with highest levels in neuronal tissues. {ECO:0000269PubMed:14508710}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.