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AQP4 aquaporin 4 [ Homo sapiens (human) ]

Gene ID: 361, updated on 7-Jun-2020

Summary

Official Symbol
AQP4provided by HGNC
Official Full Name
aquaporin 4provided by HGNC
Primary source
HGNC:HGNC:637
See related
Ensembl:ENSG00000171885 MIM:600308
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; 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. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
Expression
Biased expression in brain (RPKM 248.2) and lung (RPKM 72.5) See more
Orthologs

Genomic context

See AQP4 in Genome Data Viewer
Location:
18q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (26852038..26865803, 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 LOC105372035 Neighboring gene ubiquitin recognition factor in ER associated degradation 1 pseudogene Neighboring gene AQP4 antisense RNA 1 Neighboring gene carbohydrate sulfotransferase 9 Neighboring gene ATPase H+ transporting V1 subunit E1 pseudogene 2 Neighboring gene uncharacterized LOC105372036

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22454

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
water channel activity EXP
Inferred from Experiment
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 
Process Evidence Code Pubs
cellular response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
cellular water homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebrospinal fluid circulation ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organismal water homeostasis IEP
Inferred from Expression Pattern
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
renal water homeostasis TAS
Traceable Author Statement
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
water homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
water transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
water transport IDA
Inferred from Direct Assay
more info
PubMed 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
astrocyte end-foot ISS
Inferred from Sequence or Structural Similarity
more info
 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
aquaporin-4
Names
aquaporin type4
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.

Genomic

  1. NG_029560.1 RefSeqGene

    Range
    5046..18710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317384.2NP_001304313.1  aquaporin-4 isoform M1x

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents the longest, C-terminally extended isoform (M1x, also known as M1ex), which results from the use of the upstream AUG start codon and readthrough of the upstream UGA stop codon to the downstream UAA stop codon. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in this isoform is denoted by an 'X'.
    Source sequence(s)
    AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
    UniProtKB/TrEMBL
    F1DSG4
    Related
    ENSP00000500598.2, ENST00000672981.2
    Conserved Domains (1) summary
    pfam00230
    Location:31248
    MIP; Major intrinsic protein
  2. NM_001317387.2NP_001304316.1  aquaporin-4 isoform delta4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1, and encodes a shorter isoform (delta4) missing an internal protein segment compared to isoform M1. This isoform exhibits no water transport properties, and downregulates the expression and water channel activity of isoform M1; thus, appears to function as a regulator of water permeability (PMID:24356448).
    Source sequence(s)
    AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
    UniProtKB/TrEMBL
    F1DSG4, V9PBN7
    Conserved Domains (1) summary
    cl00200
    Location:31221
    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 ...
  3. NM_001364286.1NP_001351215.1  aquaporin-4 isoform M23

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents isoform M23, which results from the use of the downstream in-frame AUG start codon and the upstream UGA stop codon. Isoform M23 has a shorter N-terminus compared to isoform M1. An alternatively spliced transcript variant (NM_004028.4) encodes the same isoform.
    Source sequence(s)
    AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  4. NM_001364287.1NP_001351216.1  aquaporin-4 isoform M23x

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents a C-terminally extended isoform (M23x, also known as M23ex), which results from the use of the downstream in-frame AUG start codon and readthrough of the upstream UGA stop codon to the downstream UAA stop codon. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in this isoform is denoted by an 'X'. An alternatively spliced transcript variant (NM_001364289.1) encodes the same isoform.
    Source sequence(s)
    AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  5. NM_001364289.1NP_001351218.1  aquaporin-4 isoform M23x

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as hMIWC1) is alternatively spliced at the 5' end, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. Variant 2 encodes two isoforms, resulting from the use of alternative in-frame translation termination codons. The encoded isoform (M23x, also known as M23ex), which results from readthrough of the upstream UGA stop codon to the downstream UAA stop codon, has a shorter N-terminus and a longer C-terminus compared to isoform M1. As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in isoform M23x is denoted by an 'X'. This isoform is the same as that represented in NM_001364287.1.
    Source sequence(s)
    AC018371, BC030745, BU687682, HQ901095, U34845
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein
  6. NM_001650.7NP_001641.1  aquaporin-4 isoform M1

    See identical proteins and their annotated locations for NP_001641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as hMIWC2) represents the predominant transcript and encodes four isoforms, resulting from the use of two alternative in-frame translation initiation codons and two alternative in-frame translation termination codons. This RefSeq represents isoform M1, which results from the use of the upstream AUG start codon and the upstream UGA stop codon.
    Source sequence(s)
    AC018371, AK222684, BU687682, DA244620, DT220791, HQ901095
    Consensus CDS
    CCDS11889.1
    UniProtKB/Swiss-Prot
    P55087
    UniProtKB/TrEMBL
    F1DSG4
    Related
    ENSP00000372654.4, ENST00000383168.9
    Conserved Domains (1) summary
    pfam00230
    Location:31248
    MIP; Major intrinsic protein
  7. NM_004028.4NP_004019.1  aquaporin-4 isoform M23

    See identical proteins and their annotated locations for NP_004019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as hMIWC1) is alternatively spliced at the 5' end, which causes translation initiation from an in-frame, downstream start codon, compared to variant 1. Variant 2 encodes two isoforms, resulting from the use of alternative in-frame translation termination codons. The encoded isoform (M23), which results from the use of the upstream UGA stop codon, has a shorter N-terminus compared to isoform M1. This isoform is the same as that represented in NM_001364286.1.
    Source sequence(s)
    AC018371, BC030745, BU687682, HQ901095, U34845
    Consensus CDS
    CCDS58617.1
    UniProtKB/Swiss-Prot
    P55087
    UniProtKB/TrEMBL
    F1DSG4
    Related
    ENSP00000462597.1, ENST00000581374.5
    Conserved Domains (1) summary
    pfam00230
    Location:9226
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    26852038..26865803 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525942.3XP_011524244.1  aquaporin-4 isoform X1

    Conserved Domains (1) summary
    pfam00230
    Location:24241
    MIP; Major intrinsic protein
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