• Gene id: 348938

Gene Summary

• Gene Symbol: NIPAL4   Gene   UCSC   Ensembl
• Aliases: ARCI6, ICHTHYIN, ICHYN
• Gene name: NIPA like domain containing 4
• Alternate names: magnesium transporter NIPA4, NIPA-like protein 4, non-imprinted in Prader-Willi/Angelman syndrome region protein 4,
• Gene location: 5q33.3 (157460018: 157474721)     Exons: 7     NC_000005.10
• Gene summary(Entrez): This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
• OMIM: 600726

Protein Summary

• Protein general information: Q0D2K0  
  • Name: Magnesium transporter NIPA4 (Ichthyin) (NIPA like protein 4) (Non imprinted in Prader Willi/Angelman syndrome region protein 4)
  • Length: 466  
  • Mass: 50058
  • Tissue specificity: Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain. {ECO
• Sequence:

  MPGDSSPGTLPLWDASLSPPLGPDPGGFSRASHAGDKSRPPAPELGSPGAVRPRVGSCAPGPMELRVSNTSCENG
  SLLHLYCSSQEVLCQIVNDLSPEVPSNATFHSWQERIRQNYGFYIGLGLAFLSSFLIGSSVILKKKGLLRLVATG
  ATRAVDGGFGYLKDAMWWAGFLTMAAGEVANFGAYAFAPATVVTPLGALSVLISAILSSYFLRESLNLLGKLGCV
  ICVAGSTVMVIHAPEEEKVTTIMEMASKMKDTGFIVFAVLLLVSCLILIFVIAPRYGQRNILIYIIICSVIGAFS
  VAAVKGLGITIKNFFQGLPVVRHPLPYILSLILALSLSTQVNFLNRALDIFNTSLVFPIYYVFFTTVVVTSSIIL
  FKEWYSMSAVDIAGTLSGFVTIILGVFMLHAFKDLDISCASLPHMHKNPPPSPAPEPTVIRLEDKNVLVDNIELA
  STSSPEEKPKVFIIHS

• Structural information:
  • Interpro: IPR008521  
  • STRING: ENSP00000311687
• Other Databases: GeneCards:  NIPAL4  Malacards:  NIPAL4

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:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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
Autosomal recessive congenital ichthyosis	KEGG:H00734
Autosomal recessive congenital ichthyosis	KEGG:H00734
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