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Aqp4 aquaporin 4 [ Mus musculus (house mouse) ]

Gene ID: 11829, updated on 14-May-2019

Summary

Official Symbol
Aqp4provided by MGI
Official Full Name
aquaporin 4provided by MGI
Primary source
MGI:MGI:107387
See related
Ensembl:ENSMUSG00000024411
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

Genomic context

See Aqp4 in Genome Data Viewer
Location:
18 A1; 18 8.74 cM
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 18 NC_000084.6 (15389394..15410982, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (15547903..15562193, complement)

Chromosome 18 - NC_000084.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A830021F12 gene Neighboring gene predicted gene, 30230 Neighboring gene fibrillarin pseudogene Neighboring gene carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 Neighboring gene predicted gene, 30452

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
channel activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
porin activity ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
water channel activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
carbon dioxide transport ISO
Inferred from Sequence Orthology
more info
 
cell-cell adhesion ISO
Inferred from Sequence Orthology
more info
 
cellular response to glucose stimulus ISO
Inferred from Sequence Orthology
more info
 
cellular response to interferon-gamma ISO
Inferred from Sequence Orthology
more info
 
cellular water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cerebrospinal fluid circulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell adhesion molecule production ISO
Inferred from Sequence Orthology
more info
 
negative regulation of interleukin-1 beta production ISO
Inferred from Sequence Orthology
more info
 
negative regulation of interleukin-6 production ISO
Inferred from Sequence Orthology
more info
 
protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
protein homotetramerization ISO
Inferred from Sequence Orthology
more info
 
regulation of vascular endothelial growth factor production ISO
Inferred from Sequence Orthology
more info
 
renal water absorption IGI
Inferred from Genetic Interaction
more info
PubMed 
renal water absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
water homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
water homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
water transport IDA
Inferred from Direct Assay
more info
PubMed 
water transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
water transport ISO
Inferred from Sequence Orthology
more info
 
water transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
T-tubule ISO
Inferred from Sequence Orthology
more info
 
astrocyte end-foot IDA
Inferred from Direct Assay
more info
PubMed 
astrocyte end-foot ISO
Inferred from Sequence Orthology
more info
 
basal plasma membrane ISO
Inferred from Sequence Orthology
more info
 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
cell projection membrane ISO
Inferred from Sequence Orthology
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane ISO
Inferred from Sequence Orthology
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
aquaporin-4
Names
mercurial-insensitive water channel

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001308641.1NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  2. NM_001308642.1NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157337.1, ENSMUST00000234053.1
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  3. NM_001308643.1NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157152.1, ENSMUST00000234473.1
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  4. NM_001308644.1NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157239.1, ENSMUST00000234518.1
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  5. NM_001308645.1NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157347.1, ENSMUST00000234391.1
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  6. NM_001308646.1NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70
    Related
    ENSMUSP00000157000.1, ENSMUST00000235044.1
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  7. NM_001308647.2NP_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
    UniProtKB/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q50H70, Q8BR89
    Related
    ENSMUSP00000157060.1, ENSMUST00000234643.1
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  8. NM_001317729.1NP_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/Swiss-Prot
    P55088
    UniProtKB/TrEMBL
    Q8BR89
    Conserved Domains (1) summary
    pfam00230
    Location:31248
    MIP; Major intrinsic protein
  9. NM_009700.3NP_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
    UniProtKB/TrEMBL
    A0A0R4J0Z3, Q8BR89
    Related
    ENSMUSP00000078088.6, ENSMUST00000079081.7
    Conserved Domains (1) summary
    pfam00230
    Location:31248
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000084.6 Reference GRCm38.p4 C57BL/6J

    Range
    15389394..15410982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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