Aqp11 aquaporin 11 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aqp11provided by MGI
Official Full Name: aquaporin 11provided by MGI
Primary source: MGI:MGI:1913583
See related: Ensembl:ENSMUSG00000042797 AllianceGenome:MGI:1913583
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: sjds; 1700015P13Rik
Summary: Enables water channel activity. Involved in several processes, including cellular water homeostasis; negative regulation of ERAD pathway; and oxygen homeostasis. Acts upstream of or within endosomal lumen acidification; proximal tubule development; and water transport. Located in endoplasmic reticulum; perinuclear region of cytoplasm; and plasma membrane. Is expressed in several structures, including adrenal gland; alimentary system; brain; genitourinary system; and immune system. Orthologous to human AQP11 (aquaporin 11). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 412.2), thymus adult (RPKM 162.8) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E1; 7 53.57 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (97375586..97387454, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (97726379..97738247, complement)

Chromosome 7 - NC_000073.7 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?

Effects of osmolality on the expression of brain aquaporins in AQP11-null mice.
Title: Effects of osmolality on the expression of brain aquaporins in AQP11-null mice.
We conclude that Aqp11(-/-) mice develop cyst-like dilated proximal tubules without documented cysts at time of death.
Title: Temporal deletion of Aqp11 in mice is linked to the severity of cyst-like disease.
The results suggest the involvement of autophagy in the development and maintenance of kidney cysts in AQP11(-/-) mice.
Title: Enhanced Autophagy in Polycystic Kidneys of AQP11 Null Mice.
AQP11 was expressed mainly in the pia matter with limited expression in the capillary at early postnatal stages at P1~P14.
Title: Aquaporin-11 (AQP11) Expression in the Mouse Brain.
impaired glycosylation processing and aberrant membrane trafficking of PC-1 in AQP11(-/-) mice could be a key mechanism of cystogenesis in AQP11(-/-) mice
Title: Aberrant glycosylation and localization of polycystin-1 cause polycystic kidney in an AQP11 knockout model.
Our results indicate an important role for AQP11 to prevent glucose-induced oxidative stress in proximal tubules.
Title: Aquaporin 11 insufficiency modulates kidney susceptibility to oxidative stress.
deletion of AQP11 results in disrupted rough endoplasmic reticulum homeostasis and increased sensitivity to rough endoplasmic reticulum injury upon metabolic challenge with amino acid
Title: Liver-specific Aquaporin 11 knockout mice show rapid vacuolization of the rough endoplasmic reticulum in periportal hepatocytes after amino acid feeding.
mouse aquaporin 11 could be involved in slow but constant water movement across the membrane
Title: Water permeability and characterization of aquaporin-11.
important role during salivary gland development
Title: Aquaporin 11 in the developing mouse submandibular gland.
Immunohistochemistry of mouse testis across development pinpointed first appearance of AQP11 coinciding with late stage elongated spermatids. cDNA analysis yielded conformation of sequence. Western blotting revealed additional forms.
Title: Aquaporin AQP11 in the testis: molecular identity and association with the processing of residual cytoplasm of elongated spermatids.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Associated conditions

Description	Tests
sudden juvenile death syndrome GeneReviews: Not available

Variation

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Alleles

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

Targeted (3) 1 citation
Chemically induced (ENU) (1) 1 citation

General gene information

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Markers

AI648923 (e-PCR)
- UniSTS:164362

Aqp11 (e-PCR), detects polymorphism
- UniSTS:531070

NoName (e-PCR)
- UniSTS:493225

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycerol channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within endosomal lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular oxygen homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular water homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular water homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proximal tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proximal tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within water transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	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

General protein information

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Preferred Names: aquaporin-11

Names: AQP-11; CG12251 gene product

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_175105.3 → NP_780314.1 aquaporin-11

See identical proteins and their annotated locations for NP_780314.1

Status: PROVISIONAL

Source sequence(s)

AK075757

Consensus CDS

CCDS21463.1

UniProtKB/Swiss-Prot

Q8BHH1, Q8JZU1

UniProtKB/TrEMBL

Q8BYF0

Related

ENSMUSP00000146215.2, ENSMUST00000206389.2

Conserved Domains (1) summary

cl00200
Location:46 → 257

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 ...