NIPAL4 information

NIPAL4
Identifiers
Aliases	NIPAL4, ARCI6, ICHTHYIN, ICHYN, NIPA like domain containing 4, SLC57A6
External IDs	OMIM: 609383; MGI: 2444671; HomoloGene: 133769; GeneCards: NIPAL4; OMA:NIPAL4 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	157,474,722 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	46,057,335 bp
RNA expression pattern
	Top expressed in
	skin of arm; ; skin of abdomen; ; skin of leg; ; gingival epithelium; ; testicle; ; skin of thigh; ; vulva; ; C1 segment; ; human penis; ; nipple;
	Top expressed in
	transitional epithelium of urinary bladder; ; lumbar subsegment of spinal cord; ; esophagus; ; belly cord; ; skin of external ear; ; skin of back; ; lip; ; skin of abdomen; ; decidua; ; otic vesicle;
	More reference expression data
	n/a
Gene ontology
Molecular function	magnesium ion transmembrane transporter activity;
Cellular component	integral component of membrane; membrane;
Biological process	magnesium ion transmembrane transport; ion transport; magnesium ion transport;
	Sources:Amigo / QuickGO
Orthologs
	348938
	214112
	ENSG00000172548
	ENSMUSG00000020411
	Q0D2K0
	Q8BZF2
	NM_001099287; NM_001172292
	NM_172524
	NP_001092757; NP_001165763
	NP_766112
	Wikidata
View/Edit Human	View/Edit Mouse

Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains.^[5] NIPAL4 codes for the protein magnesium transporter NIPA4, which acts as a Mg²⁺
transporter.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172548 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020411 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. (October 2004). "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis". Human Molecular Genetics. 13 (20): 2473–82. doi:10.1093/hmg/ddh263. PMID 15317751.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000172548 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020411 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Lefèvre_2004-5] Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. (October 2004). "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis". Human Molecular Genetics. 13 (20): 2473–82. doi:10.1093/hmg/ddh263. PMID 15317751.

NIPAL4 information

and 3 Related for: NIPAL4 information

NIPAL4

Ichthyosis

Solute carrier family