Aqp4 aquaporin 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aqp4provided by MGI
Official Full Name: aquaporin 4provided by MGI
Primary source: MGI:MGI:107387
See related: Ensembl:ENSMUSG00000024411 AllianceGenome:MGI:107387
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: WCH4
Summary: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
Expression: Biased expression in cerebellum adult (RPKM 26.4), frontal lobe adult (RPKM 12.8) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A1; 18 8.74 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (15522451..15544039, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (15389394..15410982, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Neuroprotective Role of AQP4 Knockdown in Astrocytes After Oxygen-Glucose Deprivation.
Title: Neuroprotective Role of AQP4 Knockdown in Astrocytes After Oxygen-Glucose Deprivation.
Crucial role of Aquaporin-4 extended isoform in brain water Homeostasis and Amyloid-beta clearance: implications for Edema and neurodegenerative diseases.
Title: Crucial role of Aquaporin-4 extended isoform in brain water Homeostasis and Amyloid-β clearance: implications for Edema and neurodegenerative diseases.
Absence of Aquaporin-4 (AQP4) Prolongs the Presence of a CD11c+ Microglial Population during Postnatal Corpus Callosum Development.
Title: Absence of Aquaporin-4 (AQP4) Prolongs the Presence of a CD11c+ Microglial Population during Postnatal Corpus Callosum Development.
Dystrophin 71 deficiency causes impaired aquaporin-4 polarization contributing to glymphatic dysfunction and brain edema in cerebral ischemia.
Title: Dystrophin 71 deficiency causes impaired aquaporin-4 polarization contributing to glymphatic dysfunction and brain edema in cerebral ischemia.
The Role of Aquaporin 4 in Lacrimal Gland Ductal Fluid Secretion in Mice.
Title: The Role of Aquaporin 4 in Lacrimal Gland Ductal Fluid Secretion in Mice.
Impact of aquaporin-4 and CD11c + microglia in the development of ependymal cells in the aqueduct: inferences to hydrocephalus.
Title: Impact of aquaporin-4 and CD11c + microglia in the development of ependymal cells in the aqueduct: inferences to hydrocephalus.
Aquaporin-4 deletion leads to reduced infarct volume and increased peri-infarct astrocyte reactivity in a mouse model of cortical stroke.
Title: Aquaporin-4 deletion leads to reduced infarct volume and increased peri-infarct astrocyte reactivity in a mouse model of cortical stroke.
The effect of aquaporin-4 inhibition on cerebrospinal fluid-tissue water exchange in mouse brain detected by magnetization transfer indirect spin labeling MRI.
Title: The effect of aquaporin-4 inhibition on cerebrospinal fluid-tissue water exchange in mouse brain detected by magnetization transfer indirect spin labeling MRI.
AQP4 regulates ferroptosis and oxidative stress of Muller cells in diabetic retinopathy by regulating TRPV4.
Title: AQP4 regulates ferroptosis and oxidative stress of Muller cells in diabetic retinopathy by regulating TRPV4.
Macroscopic changes in aquaporin-4 underlie blast traumatic brain injury-related impairment in glymphatic function.
Title: Macroscopic changes in aquaporin-4 underlie blast traumatic brain injury-related impairment in glymphatic function.

Submit: New GeneRIF Correction See all GeneRIFs (262)

Variation

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Alleles

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

Endonuclease-mediated (9) 1 citation
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Aqp4 (e-PCR), detects polymorphism
- UniSTS:141117

Aqp4 (e-PCR), detects polymorphism
- UniSTS:186493

Aqp4 (e-PCR), detects polymorphism
- UniSTS:209565

Aqp4 (e-PCR), detects polymorphism
- UniSTS:530943

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in carbon dioxide transport	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucose stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to type II interferon	ISO Inferred from Sequence Orthology more info
involved_in cerebrospinal fluid circulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebrospinal fluid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	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
involved_in multicellular organismal-level water homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organismal-level water homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell adhesion molecule production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of interleukin-6 production	ISO Inferred from Sequence Orthology 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
involved_in regulation of vascular endothelial growth factor production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within renal water absorption	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within renal water absorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	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
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within water transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in astrocyte end-foot	IDA Inferred from Direct Assay more info	PubMed
located_in astrocyte end-foot	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell projection membrane	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement 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
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: aquaporin-4

Names: mercurial-insensitive water channel

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_001308641.1 → NP_001295570.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295570.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as a/1) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000159185.2, ENSMUST00000238946.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001308642.1 → NP_001295571.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295571.1

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as ad/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000157337.2, ENSMUST00000234053.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001308643.1 → NP_001295572.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295572.1

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as ab/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000157152.2, ENSMUST00000234473.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001308644.1 → NP_001295573.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295573.1

Status: REVIEWED

Description

Transcript Variant: This variant (6, also known as ac/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000157239.2, ENSMUST00000234518.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001308645.1 → NP_001295574.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295574.1

Status: REVIEWED

Description

Transcript Variant: This variant (7, also known as abc/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000157347.2, ENSMUST00000234391.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001308646.1 → NP_001295575.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295575.1

Status: REVIEWED

Description

Transcript Variant: This variant (8, also known as abcd/1) contains alternate exons at the 5' end, which cause translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23A) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000157000.2, ENSMUST00000235044.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001308647.2 → NP_001295576.1 aquaporin-4 isoform M23

See identical proteins and their annotated locations for NP_001295576.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as AQP4.M23X or mMIWC1) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. The resulting isoform (M23, also known as M23X) has a shorter N-terminus compared to isoform 1. Variants 2-8 encode the same isoform.

Source sequence(s)

AC133525, AF469169, AK045357, AK079614, BB750519, BX633380, U88623

Consensus CDS

CCDS89196.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

Q50H70

Related

ENSMUSP00000157060.2, ENSMUST00000234643.2

Conserved Domains (1) summary

pfam00230
Location:9 → 226

MIP; Major intrinsic protein
NM_001317729.1 → NP_001304658.1 aquaporin-4 isoform M1x

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as AQP4.M1 or mMIWC2) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (M1) results from translation termination at the upstream UGA stop codon, while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the longer, C-terminally extended isoform (M1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.

Source sequence(s)

AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623

UniProtKB/TrEMBL

A0A5F8MQ17

Conserved Domains (1) summary

pfam00230
Location:31 → 248

MIP; Major intrinsic protein
NM_009700.3 → NP_033830.2 aquaporin-4 isoform M1

See identical proteins and their annotated locations for NP_033830.2

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as AQP4.M1 or mMIWC2) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (M1) results from translation termination at the upstream UGA stop codon, while the longer isoform (M1x) results from UGA stop codon readthrough to the downstream UAA termination codon. This RefSeq represents the shorter isoform (M1).

Source sequence(s)

AC133525, AF469168, AK045357, AK079614, BB750519, BX633380, U88623

Consensus CDS

CCDS29073.1

UniProtKB/Swiss-Prot

P55088, P97818, Q4FJP1, Q61131, Q61132, Q8VHE4, Q8VHE5, Q9EQI3

UniProtKB/TrEMBL

A0A0R4J0Z3

Related

ENSMUSP00000078088.7, ENSMUST00000079081.8

Conserved Domains (1) summary

pfam00230
Location:31 → 248

MIP; Major intrinsic protein