InnateDB Protein
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IDBP-589309.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NIPA1
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Protein Name
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non imprinted in Prader-Willi/Angelman syndrome 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000453722
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InnateDB Gene
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IDBG-4011 (NIPA1)
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Protein Structure
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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}.
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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}.
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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.
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Tissue Specificity |
Widely expressed with highest levels in neuronal tissues. {ECO:0000269PubMed:14508710}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
0
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0015095
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magnesium ion transmembrane transporter activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008521
Magnesium transporter NIPA
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PFAM |
PF05653
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7RTP0
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PhosphoSite |
PhosphoSite-Q7RTP0
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TrEMBL |
Q3SYP4
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UniProt Splice Variant |
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Entrez Gene |
123606
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UniGene |
Hs.621742
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RefSeq |
NP_001135747
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HUGO |
HGNC:17043
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OMIM |
608145
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CCDS |
CCDS73692
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HPRD |
10487
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IMGT |
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EMBL |
AB089319
AC011767
AK314073
BC103705
BK001020
BX537997
BX648722
CH471258
CR614719
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GenPept |
AAI03706
BAC67707
BAG36773
CAD97953
CAI45979
DAA01477
EAW65549
EAW65551
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