Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123606
Gene name Gene Name - the full gene name approved by the HGNC.
NIPA magnesium transporter 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NIPA1
Synonyms (NCBI Gene) Gene synonyms aliases
FSP3, SLC57A1, SPG6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPG6
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005769 Component Early endosome IEA
GO:0005886 Component Plasma membrane TAS
GO:0015095 Function Magnesium ion transmembrane transporter activity IEA
GO:0015693 Process Magnesium ion transport IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608145 17043 ENSG00000170113
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Seizure Tonic - clonic seizures rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)
Spastic paraplegia Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder), Autosomal dominant spastic paraplegia type 6 rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520
View all (368 more)
28832565, 15643603, 23850684, 15711826, 14508710, 17928003
Unknown
Disease term Disease name Evidence References Source
Spastic Paraplegia hereditary spastic paraplegia 6 GenCC
Associations from Text Mining
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