Gene Gene information from NCBI Gene database.
Entrez ID 152519
Gene name NIPA like domain containing 1
Gene symbol NIPAL1
Synonyms (NCBI Gene)
NIPA3NPAL1SLC57A3
Chromosome 4
Chromosome location 4p12
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT026452 hsa-miR-192-5p Microarray 19074876
MIRT043429 hsa-miR-331-3p CLASH 23622248
MIRT667216 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT667215 hsa-miR-6887-3p HITS-CLIP 23824327
MIRT667214 hsa-miR-4667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
GO:0006811 Process Monoatomic ion transport IEA
GO:0015095 Function Magnesium ion transmembrane transporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620340 27194 ENSG00000163293
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NVV3
Protein name Magnesium transporter NIPA3 (NIPA-like protein 1) (Non-imprinted in Prader-Willi/Angelman syndrome region protein 3)
Protein function Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(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 66 360 Magnesium transporter NIPA Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the pancreatic islets. {ECO:0000269|PubMed:32439805}.
Sequence
Sequence length 410
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis, Gouty Gouty arthritis GWASCAT_DG 27899376
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma GWASDB_DG 23829686
★☆☆☆☆
Found in Text Mining only
Cone-Rod Dystrophies Cone-rod dystrophy CLINVAR_DG 30718709
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASCAT_DG 27899376
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Macular dystrophy Macular dystrophy CLINVAR_DG 30718709
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29464350
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal carcinoma Nasopharyngeal Carcinoma BEFREE 31289279
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 31289279 Associate
★☆☆☆☆
Found in Text Mining only
obsolete Rod-cone dystrophy Rod-cone dystrophy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Plexiform leiomyoma Plexiform leiomyoma GWASCAT_DG 30194396
★☆☆☆☆
Found in Text Mining only