• Gene id: 152519

Gene Summary

• Gene Symbol: NIPAL1   Gene   UCSC   Ensembl
• Aliases: NPAL1
• Gene name: NIPA like domain containing 1
• Alternate names: magnesium transporter NIPA3, NIPA-like protein 1, non-imprinted in Prader-Willi/Angelman syndrome region protein 3,
• Gene location: 4p12 (48016771: 48040172)     Exons: 6     NC_000004.12
• OMIM: 176871

Protein Summary

• Protein general information: Q6NVV3  
  • Name: Magnesium transporter NIPA3 (NIPA like protein 1) (Non imprinted in Prader Willi/Angelman syndrome region protein 3)
  • Length: 410  
  • Mass: 44638
• Sequence:

  MGAQVRLPPGEPCREGYVLSLVCPNSSQAWCEITNVSQLLASPVLYTDLNYSINNLSISANVENKYSLYVGLVLA
  VSSSIFIGSSFILKKKGLLQLASKGFTRAGQGGHSYLKEWLWWVGLLSMGAGEAANFAAYAFAPATLVTPLGALS
  VLISAILSSYFLNEHLNIHGKIGCILSILGSTVMVIHAPQEEEVTSLHEMEMKLRDPGFISFAVIITVISLVLIL
  IVAPKKGQTNILVYISICSLIGAFSVSSVKGLGIAIKELIEWKPVYKHPLVFVLLAVLVLSVTTQINYLNKALDT
  FNTSLVTPIYYVFFTSMVVTCSAILFQEWYGMTAGDIIGTLSGFFTIIIGIFLLHAFKNTDITWSELTSTAKKEA
  VSLNVNENNYVLLENLECSAPGYNDDVTLFSRTDD

• Structural information:
  • Interpro: IPR008521  
  • STRING: ENSP00000295461
• Other Databases: GeneCards:  NIPAL1  Malacards:  NIPAL1

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:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015693	magnesium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:1903830	magnesium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881