Aqp5 aquaporin 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aqp5provided by MGI
Official Full Name: aquaporin 5provided by MGI
Primary source: MGI:MGI:106215
See related: Ensembl:ENSMUSG00000044217 AllianceGenome:MGI:106215
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
Summary: Predicted to enable identical protein binding activity and water channel activity. Acts upstream of or within camera-type eye morphogenesis; saliva secretion; and water transport. Located in several cellular components, including apical plasma membrane; basal plasma membrane; and microvillus. Is expressed in several structures, including exocrine system; lung; nucleus pulposus; oocyte; and sensory organ. Used to study dry eye syndrome. Human ortholog(s) of this gene implicated in Bothnian type palmoplantar keratoderma. Orthologous to human AQP5 (aquaporin 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung adult (RPKM 187.0), mammary gland adult (RPKM 72.8) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 56.13 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (99488909..99492710)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (99591028..99594829)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Reticulated Retinoic Acid Synthesis is Implicated in the Pathogenesis of Dry Eye in Aqp5 Deficiency Mice.
Title: Reticulated Retinoic Acid Synthesis is Implicated in the Pathogenesis of Dry Eye in Aqp5 Deficiency Mice.
Ablation of AQP5 gene in mice leads to olfactory dysfunction caused by hyposecretion of Bowman's gland.
Title: Ablation of AQP5 gene in mice leads to olfactory dysfunction caused by hyposecretion of Bowman's gland.
Ontogenetic development of the water channel protein AQP5 in mouse salivary gland tissue.
Title: Ontogenetic development of the water channel protein AQP5 in mouse salivary gland tissue.
Aquaporin 5 maintains lens transparency by regulating the lysosomal pathway using circRNA.
Title: Aquaporin 5 maintains lens transparency by regulating the lysosomal pathway using circRNA.
Involvement of aquaporin 5 in Sjogren's syndrome.
Title: Involvement of aquaporin 5 in Sjögren's syndrome.
Loss of aquaporin 5 contributes to the corneal epithelial pathogenesis via Wnt/beta-catenin pathway.
Title: Loss of aquaporin 5 contributes to the corneal epithelial pathogenesis via Wnt/β-catenin pathway.
Aquaporin5 Deficiency Aggravates ROS/NLRP3 Inflammasome-Mediated Pyroptosis in the Lacrimal Glands.
Title: Aquaporin5 Deficiency Aggravates ROS/NLRP3 Inflammasome-Mediated Pyroptosis in the Lacrimal Glands.
Up-regulation of Aquaporin 5 Defines Spasmolytic Polypeptide-Expressing Metaplasia and Progression to Incomplete Intestinal Metaplasia.
Title: Up-regulation of Aquaporin 5 Defines Spasmolytic Polypeptide-Expressing Metaplasia and Progression to Incomplete Intestinal Metaplasia.
Lacrimal gland homeostasis is maintained by the AQP5 pathway by attenuating endoplasmic reticulum stress inflammation in the lacrimal gland of AQP5 knockout mice.
Title: Lacrimal gland homeostasis is maintained by the AQP5 pathway by attenuating endoplasmic reticulum stress inflammation in the lacrimal gland of AQP5 knockout mice.
Ezrin Regulates Ca(2+) Ionophore-Induced Plasma Membrane Translocation of Aquaporin-5.
Title: Ezrin Regulates Ca(2+) Ionophore-Induced Plasma Membrane Translocation of Aquaporin-5.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Variation

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Alleles

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

Endonuclease-mediated (12) 1 citation
Targeted (8) 1 citation

General gene information

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Markers

Aqp5 (e-PCR), detects polymorphism
- UniSTS:530944

NoName (e-PCR)
- UniSTS:548417

NoName (e-PCR)
- UniSTS:548418

Aqp5 (e-PCR), detects polymorphism
- UniSTS:545893

Aqp5 (e-PCR), detects polymorphism
- UniSTS:186494

Aqp5 (e-PCR), detects polymorphism
- UniSTS:209566

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	ISO Inferred from Sequence Orthology more info
enables water channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables water channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within camera-type eye morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbon dioxide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbon dioxide transport	IEA Inferred from Electronic Annotation more info
involved_in carbon dioxide transport	ISO Inferred from Sequence Orthology more info
involved_in cellular hypotonic response	ISO Inferred from Sequence Orthology more info
involved_in cellular hypotonic response	ISS Inferred from Sequence or Structural Similarity more info
involved_in odontogenesis	IEA Inferred from Electronic Annotation more info
involved_in pancreatic juice secretion	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within saliva secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within water transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	ISO Inferred from Sequence Orthology more info
involved_in water transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within water transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
NOT located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: aquaporin-5

Names: AQP-5

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.