Aqp8 aquaporin 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aqp8provided by MGI
Official Full Name: aquaporin 8provided by MGI
Primary source: MGI:MGI:1195271
See related: Ensembl:ENSMUSG00000030762 AllianceGenome:MGI:1195271
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: AQP-8
Summary: Enables ammonium channel activity; urea channel activity; and water channel activity. Involved in several processes, including ammonium import across plasma membrane; hydrogen peroxide transmembrane transport; and urea transport. Located in several cellular components, including intracellular canaliculus; mitochondrion; and smooth endoplasmic reticulum. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; liver; and submandibular gland primordium. Orthologous to human AQP8 (aquaporin 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in colon adult (RPKM 230.0), liver E18 (RPKM 138.5) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 67.42 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (123061517..123067226)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (123462294..123468003)

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?

AQP8 promotes glioma proliferation and growth, possibly through the ROS/PTEN/AKT signaling pathway.
Title: AQP8 promotes glioma proliferation and growth, possibly through the ROS/PTEN/AKT signaling pathway.
Aquaporins 8 and 9 as Possible Markers for Adult Murine Lacrimal Gland Cells.
Title: Aquaporins 8 and 9 as Possible Markers for Adult Murine Lacrimal Gland Cells.
AQP8 silencing impairs H2O2 entry into I.29micro+ B lymphoma cells. AQP8 can act as an efficient H2O2 channel also in cells of the B lineage.
Title: AQP8 transports NOX2-generated H2O2 across the plasma membrane to promote signaling in B cells.
Rotavirus diarrhea is associated with the downregulation of AQP1, -4, and -8 expression.
Title: Involvement of aquaporins in a mouse model of rotavirus diarrhea.
AQP8 has a role in the formation of follicles and provided new insight into the molecular mechanisms of folliculogenesis.
Title: Occurrence of multi-oocyte follicles in aquaporin 8-deficient mice.
Data indicate selective expression of aquaporins 3 and 8 in primitive erythroblasts and aquaporins 1 and 9 in adult definitive erythroblasts.
Title: Ontogeny of erythroid gene expression.
we conclude that AQP8 deficiency increases the number of mature follicles by reducing the apoptosis of granulosa cells, thus increasing the fertility of female mice[aquaporin 8]
Title: Increased female fertility in aquaporin 8-deficient mice.
Studies confirmed the involvement of AQP8 in alpha-amylase 2 regulation.
Title: Differential proteomic shotgun analysis elucidates involvement of water channel aquaporin 8 in presence of α-amylase in the colon.
The Hg(2+)-sensitive AQP8, which was localized in elongated spermatids and spermatozoa, is a likely candidate for a water channel responsible for physiological sperm volume regulation crucial to in vivo fertilization.
Title: Aquaporin isoforms involved in physiological volume regulation of murine spermatozoa.
The results support the conclusion that AQP8 can facilitate NH(3) transport but provide evidence against physiologically significant AQP8-facilitated NH(3) transport in mice.
Title: Evidence from knockout mice against physiologically significant aquaporin 8-facilitated ammonia transport.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (1) 1 citation

General gene information

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Markers

Aqp8 (e-PCR), detects polymorphism
- UniSTS:546657

Aqp8 (e-PCR), detects polymorphism
- UniSTS:186497

Aqp8 (e-PCR), detects polymorphism
- UniSTS:209569

AF018952 (e-PCR)
- UniSTS:159685

Aqp8 (e-PCR), detects polymorphism
- UniSTS:266975

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ammonium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ammonium channel activity	ISO Inferred from Sequence Orthology more info
enables ammonium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables methylammonium channel activity	ISO Inferred from Sequence Orthology more info
enables methylammonium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables urea channel activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water channel activity	ISO Inferred from Sequence Orthology more info
enables water channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ammonium import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in ammonium import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in ammonium transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in canalicular bile acid transport	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in hydrogen peroxide transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in methylammonium transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in methylammonium transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in methylammonium transport	ISO Inferred from Sequence Orthology more info
involved_in methylammonium transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cholesterol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in transepithelial water transport	ISO Inferred from Sequence Orthology more info
involved_in transepithelial water transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in urea transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in urea transport	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in water transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within water transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical part of cell	ISO Inferred from Sequence Orthology 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 basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular canaliculus	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular canaliculus	ISO Inferred from Sequence Orthology more info
located_in intracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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	TAS Traceable Author Statement more info	PubMed
located_in smooth endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in smooth endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: aquaporin-8

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_001109045.1 → NP_001102515.1 aquaporin-8 isoform 2

See identical proteins and their annotated locations for NP_001102515.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AK146660, AV374360, BY713653, CF617211

Consensus CDS

CCDS85406.1

UniProtKB/TrEMBL

A0A0X1KG59

Related

ENSMUSP00000033023.5, ENSMUST00000033023.10

Conserved Domains (1) summary

cl00200
Location:37 → 247

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 ...
NM_007474.2 → NP_031500.1 aquaporin-8 isoform 1

See identical proteins and their annotated locations for NP_031500.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AF018952, AK146660, AV374360, BY713653

Consensus CDS

CCDS72038.1

UniProtKB/Swiss-Prot

P56404, Q91XC2

Related

ENSMUSP00000095664.6, ENSMUST00000098056.6

Conserved Domains (1) summary

cl00200
Location:38 → 248

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 ...