Gene Gene information from NCBI Gene database.
Entrez ID 123606
Gene name NIPA magnesium transporter 1
Gene symbol NIPA1
Synonyms (NCBI Gene)
FSP3SLC57A1SPG6
Chromosome 15
Chromosome location 15q11.2
Summary This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants enc
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs104894490 G>A,C Pathogenic Missense variant, coding sequence variant
rs104894496 C>G Pathogenic Missense variant, intron variant, coding sequence variant
rs139372534 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
798
miRTarBase ID miRNA Experiments Reference
MIRT021392 hsa-miR-9-5p Sequencing 20371350
MIRT024858 hsa-miR-215-5p Microarray 19074876
MIRT026118 hsa-miR-192-5p Microarray 19074876
MIRT027921 hsa-miR-96-5p Sequencing 20371350
MIRT647065 hsa-miR-6887-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608145 17043 ENSG00000170113
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7RTP0
Protein name Magnesium transporter NIPA1 (Non-imprinted in Prader-Willi/Angelman syndrome region protein 1) (Spastic paraplegia 6 protein)
Protein function 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).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05653 Mg_trans_NIPA 27 314 Magnesium transporter NIPA Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in neuronal tissues. {ECO:0000269|PubMed:14508710}.
Sequence
Sequence length 329
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Miscellaneous transport and binding events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
328
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia Pathogenic rs104894490 RCV000516051
Hereditary spastic paraplegia 6 Pathogenic rs104894496, rs104894490, rs1895598333 RCV000002628
RCV000002629
RCV000002631
RCV001219670
Spastic paraplegia Pathogenic rs104894490 RCV001003981
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis risk factor rs531550505 RCV001260552
Familial cancer of breast Benign rs7168401 RCV005902160
Malignant lymphoma, large B-cell, diffuse Conflicting classifications of pathogenicity; Benign rs373273269, rs7168401 RCV005901137
RCV005902161
NIPA1-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs758551462, rs139372534, rs2503821086, rs1285562776, rs748800105, rs199718530, rs531550505, rs769522060, rs759267223, rs754979501 RCV003968587
RCV003940067
RCV003412529
RCV003893724
RCV003934059
RCV003930350
RCV004755925
RCV003938246
RCV003960629
RCV003960824
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 30342764, 33414559, 35869263
Anorexia Nervosa Associate 30878790
Atrophy Stimulate 16143870
Autism Spectrum Disorder Associate 33562221
Autistic Disorder Associate 16183798, 30878790
Cerebellar Diseases Associate 35869263
Cognition Disorders Associate 22302102
Developmental Disabilities Associate 34680874
Diabetes Mellitus Type 2 Associate 25733456
Fetal Growth Retardation Associate 30342661