Aqp6 aquaporin 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aqp6provided by MGI
Official Full Name: aquaporin 6provided by MGI
Primary source: MGI:MGI:1341204
See related: Ensembl:ENSMUSG00000043144 AllianceGenome:MGI:1341204
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 nitrate transmembrane transporter activity and water channel activity. Predicted to be involved in carbon dioxide transport; nitrate transmembrane transport; and renal water transport. Predicted to be located in cytoplasmic vesicle membrane. Predicted to be active in apical plasma membrane. Is expressed in cecum; early conceptus; gonad; and metanephros. Orthologous to human AQP6 (aquaporin 6). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in kidney adult (RPKM 20.5), cerebellum adult (RPKM 5.4) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 56.13 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (99495891..99503359)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (99598468..99605478)

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 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?

AQP6 channel is functionally expressed in parotid acinar cells and contributes to secretion of anions in these cells.
Title: Electrophysiological properties of AQP6 in mouse parotid acinar cells.
Data show that in the inner ear aquaporin-6 is expressed, in both vestibular and acoustic sensory epithelia, by the supporting cells directly contacting hair cells.
Title: Aquaporin-6 expression in the cochlear sensory epithelium is downregulated by salicylates.
Functional analyses of water and ion permeation revealed that mAQP6a functions like rat AQP6 and that mAQP6b does not function as either a water channel or an ion channel under our experimental conditions
Title: Molecular cloning and characterization of mouse aquaporin 6.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3)

General gene information

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Markers

Aqp6 (e-PCR), detects polymorphism
- UniSTS:545894

Aqp6 (e-PCR), detects polymorphism
- UniSTS:186495

NoName (e-PCR)
- UniSTS:493214

Aqp6 (e-PCR), detects polymorphism
- UniSTS:209567

AI790337 (e-PCR)
- UniSTS:186043

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables nitrate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables nitrate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
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
involved_in carbon dioxide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in nitrate transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in odontogenesis	IEA Inferred from Electronic Annotation more info
involved_in renal water transport	ISO Inferred from Sequence Orthology more info
involved_in renal water transport	ISS Inferred from Sequence or Structural Similarity more info
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	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 cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: aquaporin-6

Names: AQP-6

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.

mRNA and Protein(s)

NM_175087.5 → NP_780296.1 aquaporin-6

See identical proteins and their annotated locations for NP_780296.1

Status: VALIDATED

Source sequence(s)

AC139317, AK082699

Consensus CDS

CCDS27824.1

UniProtKB/Swiss-Prot

Q8C4A0

UniProtKB/TrEMBL

Q14BV5

Related

ENSMUSP00000023754.6, ENSMUST00000023754.6

Conserved Domains (1) summary

cl00200
Location:22 → 228

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

99495891..99503359

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520350.5 → XP_006520413.1 aquaporin-6 isoform X1

Conserved Domains (1) summary

cl00200
Location:22 → 211

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...