• Gene id: 123606

Gene Summary

• Gene Symbol: NIPA1   Gene   UCSC   Ensembl
• Aliases: FSP3, SLC57A1, SPG6
• Gene name: NIPA magnesium transporter 1
• Alternate names: magnesium transporter NIPA1, non imprinted in Prader-Willi/Angelman syndrome 1, non-imprinted in Prader-Willi/Angelman syndrome region protein 1, spastic paraplegia 6 protein,
• Gene location: 15q11.2 (22786224: 22829788)     Exons: 6     NC_000015.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q7RTP0  
  • Name: Magnesium transporter NIPA1 (Non imprinted in Prader Willi/Angelman syndrome region protein 1) (Spastic paraplegia 6 protein)
  • Length: 329  
  • Mass: 34562
  • Tissue specificity: Widely expressed with highest levels in neuronal tissues. {ECO
• Sequence:

  MGTAAAAAAAAAAAAAGEGARSPSPAAVSLGLGVAVVSSLVNGSTFVLQKKGIVRAKRRGTSYLTDIVWWAGTIA
  MAVGQIGNFLAYTAVPTVLVTPLGALGVPFGSILASYLLKEKLNILGKLGCLLSCAGSVVLIIHSPKSESVTTQA
  ELEEKLTNPVFVGYLCIVLLMLLLLIFWIAPAHGPTNIMVYISICSLLGSFTVPSTKGIGLAAQDILHNNPSSQR
  ALCLCLVLLAVLGCSIIVQFRYINKALECFDSSVFGAIYYVVFTTLVLLASAILFREWSNVGLVDFLGMACGFTT
  VSVGIVLIQVFKEFNFNLGEMNKSNMKTD

• Structural information:
  • Interpro: IPR008521  
  • STRING: ENSP00000337452
• Other Databases: GeneCards:  NIPA1  Malacards:  NIPA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015693	magnesium ion transport	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0015693	magnesium ion transport	IEA	biological process
GO:0015095	magnesium ion transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015693	magnesium ion transport	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:1903830	magnesium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq