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AQP4 aquaporin 4 [ Homo sapiens (human) ]

Gene ID: 361, updated on 26-Nov-2014
Official Symbol
AQP4provided by HGNC
Official Full Name
aquaporin 4provided by HGNC
Primary source
HGNC:HGNC:637
See related
Ensembl:ENSG00000171885; HPRD:02631; MIM:600308; Vega:OTTHUMG00000131955
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIWC; HMIWC2
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. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
See AQP4 in Epigenomics, MapViewer
Location:
18q11.2-q12.1
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (26852043..26865752, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (24432007..24445735, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927652 Neighboring gene ubiquitin fusion degradation 1 like (yeast) pseudogene Neighboring gene AQP4 antisense RNA 1 Neighboring gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 pseudogene 2 Neighboring gene carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Aquaporin-mediated transport, organism-specific biosystem (from REACTOME)
    Aquaporin-mediated transport, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
  • Bile secretion, organism-specific biosystem (from KEGG)
    Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Bile secretion, conserved biosystem (from KEGG)
    Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
  • Passive transport by Aquaporins, organism-specific biosystem (from REACTOME)
    Passive transport by Aquaporins, organism-specific biosystemAquaporins (AQP's) are six-pass transmembrane proteins that form channels in membranes. Each monomer contains a central channel formed in part by two asparagine-proline-alanine motifs (NPA boxes) tha...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
    Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystem (from REACTOME)
    Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
  • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
  • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC22454

Gene Ontology Provided by GOA

Function Evidence Code Pubs
porin activity IEA
Inferred from Electronic Annotation
more info
 
water channel activity EXP
Inferred from Experiment
more info
 
water transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
carbon dioxide transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
hyperosmotic salinity response IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal water homeostasis IEP
Inferred from Expression Pattern
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
renal water absorption IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to radiation IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
T-tubule IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
aquaporin-4
Names
aquaporin-4
WCH4
aquaporin type4
aquaporin 4 isoform delta4
mercurial-insensitive water channel

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.

Genomic

  1. NG_029560.1 

    Range
    5001..18710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001650.4NP_001641.1  aquaporin-4 isoform a

    See proteins identical to NP_001641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longer transcript, and encodes the longer isoform (a), also known as isoform M1.
    Source sequence(s)
    AK026728, AL138136, BC022286, BC030745, BC045780, BI667387, CD105892, CK001094, D63412, N50070, R35726
    Consensus CDS
    CCDS11889.1
    UniProtKB/TrEMBL
    F1DSG4
    UniProtKB/Swiss-Prot
    P55087
    Related
    ENSP00000372654, OTTHUMP00000162792, ENST00000383168, OTTHUMT00000254914
    Conserved Domains (1) summary
    cd00333
    Location:36251
    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 ...
  2. NM_004028.3NP_004019.1  aquaporin-4 isoform b

    See proteins identical to NP_004019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b), also known as variant C2, has an alternate 5' sequence and utilizes downstream start codon, as compared to variant a. The resulting isoform (b), also known as isoform M23, has a shorter N-terminus when compared to isoform a.
    Source sequence(s)
    AK026728, AL138136, BC022286, BC030745, BC045780, CD105892, CK001094, D63412, N50070, R35726, U34845
    Consensus CDS
    CCDS58617.1
    UniProtKB/Swiss-Prot
    P55087
    Conserved Domains (1) summary
    cd00333
    Location:14229
    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    26852043..26865752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

    Range
    24359750..24373454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    21281696..21295401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)