AlphaFold predicted structure
NIPA1 · Q7RTP0
Mean pLDDT
85.3/ 100
Confident
329 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)21%
- Low(50–70)6%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
NIPA1
Chr 15q11.2NIPA magnesium transporter 1
- Aliases:
- MGC35570, SLC57A1
- MANE:
- ENST00000337435.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
hereditary spastic paraplegia 6
0.74Autosomal dominant spastic paraplegia type 6
0.69hereditary spastic paraplegia
0.44Spastic paraplegia
0.37alcohol drinking
0.24urolithiasis
0.24amyotrophic lateral sclerosis
0.21hereditary disease
0.19retinitis pigmentosa
0.10early-onset non-syndromic cataract
0.09
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Magnesium transporter NIPA1
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Zn(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity)