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Reviewed, UniProtKB/Swiss-Prot P55087 (AQP4_HUMAN)

Last modified June 16, 2009. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Aquaporin-4
      Short name=AQP-4
Alternative name(s):
    WCH4
    Mercurial-insensitive water channel
      Short name=MIWC
Gene names
Name: AQP4
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Brain - muscle >> heart, kidney, lung, and trachea.

Domain

Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA).

Sequence similarities

Belongs to the MIP/aquaporin (TC 1.A.8) family. [View classification]

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Ontologies

Keywords
   Biological processTransport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DomainRepeat
Transmembrane
   PTMGlycoprotein
Phosphoprotein
   Technical term3D-structure
Gene Ontology (GO)
   Biological processexcretion

Traceable author statement. Source: ProtInc

nervous system development

Traceable author statement. Source: ProtInc

   Cellular componentintegral to plasma membrane

Traceable author statement. Source: ProtInc

   Molecular functionwater transporter activity Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: P55087-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: P55087-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: Missing.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 323323Aquaporin-4
PRO_0000063948

Regions

Topological domain1 – 3636Cytoplasmic Potential
Transmembrane37 – 5721 Potential
Topological domain58 – 647Extracellular Potential
Transmembrane65 – 8521 Potential
Topological domain86 – 11530Cytoplasmic Potential
Transmembrane116 – 13621 Potential
Topological domain137 – 15519Extracellular Potential
Transmembrane156 – 17621 Potential
Topological domain177 – 1848Cytoplasmic Potential
Transmembrane185 – 20521 Potential
Topological domain206 – 23126Extracellular Potential
Transmembrane232 – 25221 Potential
Topological domain253 – 32371Cytoplasmic Potential
Motif97 – 993NPA 1
Motif213 – 2153NPA 2

Amino acid modifications

Modified residue2851Phosphoserine By similarity
Modified residue3211Phosphoserine By similarity
Glycosylation1531N-linked (GlcNAc...) Potential
Glycosylation2061N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 2222Missing in isoform 1.
VSP_003232

Experimental info

Sequence conflict2461G → A in AAC52112. Ref.1
Sequence conflict287 – 2882VE → AK in AAC52112. Ref.1
Sequence conflict2961P → L in AAC52112. Ref.1

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Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: 1A1600CF0DC11052

FASTA32334,830
        10         20         30         40         50         60 
MSDRPTARRW GKCGPLCTRE NIMVAFKGVW TQAFWKAVTA EFLAMLIFVL LSLGSTINWG 

        70         80         90        100        110        120 
GTEKPLPVDM VLISLCFGLS IATMVQCFGH ISGGHINPAV TVAMVCTRKI SIAKSVFYIA 

       130        140        150        160        170        180 
AQCLGAIIGA GILYLVTPPS VVGGLGVTMV HGNLTAGHGL LVELIITFQL VFTIFASCDS 

       190        200        210        220        230        240 
KRTDVTGSIA LAIGFSVAIG HLFAINYTGA SMNPARSFGP AVIMGNWENH WIYWVGPIIG 

       250        260        270        280        290        300 
AVLAGGLYEY VFCPDVEFKR RFKEAFSKAA QQTKGSYMEV EDNRSQVETD DLILKPGVVH 

       310        320 
VIDVDRGEEK KGKDQSGEVL SSV

« Hide

Isoform 1.

Checksum: C91C3D006C1B75A0
Show »

FASTA30132,300

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References

« Hide 'large scale' references
[1]"cDNA cloning, gene organization, and chromosomal localization of a human mercurial insensitive water channel. Evidence for distinct transcriptional units."
Yang B., Ma T., Verkman A.S.
J. Biol. Chem. 270:22907-22913(1995) [PubMed: 7559426] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Fetal brain.
[2]"A water channel closely related to rat brain aquaporin 4 is expressed in acid- and pepsinogen-secretory cells of human stomach."
Misaka T., Abe K., Iwabuchi K., Kusakabe Y., Ichinose M., Miki K., Emori Y., Arai S.
FEBS Lett. 381:208-212(1996) [PubMed: 8601457] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]"The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain."
Lu M., Lee M.D., Smith B.L., Jung J.S., Agre P., Verdijk M.A.J., Merkx G., Rijss J.P.L., Deen P.M.T.
Proc. Natl. Acad. Sci. U.S.A. 93:10908-10912(1996) [PubMed: 8855281] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Lung.
+Additional computationally mapped references.

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Cross-references

Sequence databases

U34846 mRNA. Translation: AAC52112.1. Different initiation.
U34845 mRNA. Translation: AAC50284.1. Different initiation.
D63412 mRNA. Translation: BAA09715.1.
U63622 mRNA. Translation: AAB26957.1.
U63623 mRNA. Translation: AAB26958.1.
BC022286 mRNA. Translation: AAH22286.1.
IPIIPI00022799.
IPI00221189.
PIRI39178.
RefSeqNP_001641.1.
NP_004019.1.
UniGeneHs.315369

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
3GD8X-ray1.80A32-254[»]
SMRP55087. Positions 31-254.
ModBaseSearch...

Protein family/group databases

TCDB1.A.8.8.5. major intrinsic protein (MIP) family.

PTM databases

PhosphoSiteP55087.

Proteomic databases

PRIDEP55087.

Genome annotation databases

EnsemblENSG00000171885. Homo sapiens. [Contig view]
GeneID361.
KEGGhsa:361.

Organism-specific databases

GeneCardsGC18M022686.
H-InvDBHIX0014377.
HGNCHGNC:637. AQP4.
HPACAB005079.
HPA014784.
MIM600308. gene.
PharmGKBPA24922.
GenAtlasSearch...

Phylogenomic databases

HOGENOMP55087.
HOVERGENP55087.
OMAP55087. FWKAVTA.

Gene expression databases

ArrayExpressP55087.
BgeeP55087.
CleanExHS_AQP4.
GermOnlineENSG00000171885. Homo sapiens.

Family and domain databases

InterProIPR012269. Aquaporin.
IPR000425. MIP.
[Graphical view]
Gene3DG3DSA:1.20.1080.10. MIP. 1 hit.
PANTHERPTHR19139. MIP. 1 hit.
PfamPF00230. MIP. 1 hit.
[Graphical view]
PRINTSPR00783. MINTRINSICP.
ProDomPD000295. MIP. 1 hit.
[Graphical view] [Entries sharing at least one domain]
TIGRFAMsTIGR00861. MIP. 1 hit.
PROSITEPS00221. MIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio1509.
SOURCESearch...

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Entry information

Entry nameAQP4_HUMAN
AccessionPrimary (citable) accession number: P55087
Secondary accession number(s): P78564
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 1, 1997
Last modified: June 16, 2009
This is version 81 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents