Nipal4 NIPA-like domain containing 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nipal4provided by MGI
Official Full Name: NIPA-like domain containing 4provided by MGI
Primary source: MGI:MGI:2444671
See related: Ensembl:ENSMUSG00000020411 AllianceGenome:MGI:2444671
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 9530066K23Rik
Summary: Predicted to enable magnesium ion transmembrane transporter activity. Involved in magnesium ion transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 6. Orthologous to human NIPAL4 (NIPA like domain containing 4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in bladder adult (RPKM 18.3), stomach adult (RPKM 7.1) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.1; 11 27.59 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (46038982..46057186, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (46148155..46166359, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alteration of epidermal lipid composition as a result of deficiency in the magnesium transporter Nipal4.
Title: Alteration of epidermal lipid composition as a result of deficiency in the magnesium transporter Nipal4.
NIPAL4 is a putative Mg(2+) transporter, and Mg(2+) concentration in differentiated keratinocytes of Nipal4-KO mice was indeed lower than that of wild-type mice.
Title: Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables magnesium ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in magnesium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in magnesium ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in magnesium ion transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: magnesium transporter NIPA4

Names: NIPA-like protein 4; ichthyin; non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.