Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Aquaporin-1

Gene

AQP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient.1 Publication

Miscellaneous

Pharmacologically inhibited by submillimolar concentrations of mercury.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei56Substrate discrimination1
Sitei180Substrate discrimination1
Sitei189Hg(2+)-sensitive residue1
Sitei195Substrate discrimination1

GO - Molecular functioni

  • ammonium transmembrane transporter activity Source: UniProtKB
  • carbon dioxide transmembrane transporter activity Source: UniProtKB
  • ephrin receptor binding Source: Ensembl
  • glycerol transmembrane transporter activity Source: UniProtKB
  • intracellular cGMP activated cation channel activity Source: UniProtKB
  • nitric oxide transmembrane transporter activity Source: UniProtKB
  • potassium channel activity Source: UniProtKB
  • potassium ion transmembrane transporter activity Source: UniProtKB
  • transmembrane transporter activity Source: UniProtKB
  • water channel activity Source: UniProtKB
  • water transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • ammonium transport Source: UniProtKB
  • bicarbonate transport Source: Reactome
  • camera-type eye morphogenesis Source: Ensembl
  • carbon dioxide transmembrane transport Source: UniProtKB
  • carbon dioxide transport Source: UniProtKB
  • cellular homeostasis Source: UniProtKB
  • cellular hyperosmotic response Source: UniProtKB
  • cellular response to cAMP Source: UniProtKB
  • cellular response to copper ion Source: UniProtKB
  • cellular response to dexamethasone stimulus Source: UniProtKB
  • cellular response to hydrogen peroxide Source: UniProtKB
  • cellular response to hypoxia Source: UniProtKB
  • cellular response to inorganic substance Source: UniProtKB
  • cellular response to mechanical stimulus Source: UniProtKB
  • cellular response to mercury ion Source: UniProtKB
  • cellular response to nitric oxide Source: UniProtKB
  • cellular response to retinoic acid Source: UniProtKB
  • cellular response to salt stress Source: UniProtKB
  • cellular response to stress Source: UniProtKB
  • cellular response to UV Source: UniProtKB
  • cell volume homeostasis Source: UniProtKB
  • cerebrospinal fluid secretion Source: UniProtKB
  • cGMP biosynthetic process Source: UniProtKB
  • corticotropin secretion Source: Ensembl
  • establishment or maintenance of actin cytoskeleton polarity Source: UniProtKB
  • glomerular filtration Source: Ensembl
  • glycerol transport Source: UniProtKB
  • hyperosmotic salinity response Source: Ensembl
  • lateral ventricle development Source: UniProtKB
  • lipid digestion Source: Ensembl
  • maintenance of symbiont-containing vacuole by host Source: UniProtKB
  • metanephric descending thin limb development Source: Ensembl
  • metanephric glomerulus vasculature development Source: Ensembl
  • metanephric proximal convoluted tubule segment 2 development Source: Ensembl
  • metanephric proximal straight tubule development Source: Ensembl
  • multicellular organismal water homeostasis Source: UniProtKB
  • negative regulation of apoptotic process Source: UniProtKB
  • negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  • nitric oxide transport Source: UniProtKB
  • odontogenesis Source: UniProtKB
  • pancreatic juice secretion Source: UniProtKB
  • positive regulation of angiogenesis Source: UniProtKB
  • positive regulation of epithelial cell migration Source: Ensembl
  • positive regulation of fibroblast proliferation Source: UniProtKB
  • positive regulation of lamellipodium assembly Source: Ensembl
  • positive regulation of saliva secretion Source: UniProtKB
  • potassium ion transport Source: UniProtKB
  • renal water absorption Source: Ensembl
  • renal water homeostasis Source: Reactome
  • renal water transport Source: UniProtKB
  • response to drug Source: UniProtKB
  • response to estrogen Source: Ensembl
  • secretory granule organization Source: Ensembl
  • sensory perception of pain Source: Ensembl
  • transepithelial water transport Source: UniProtKB
  • water transport Source: UniProtKB
  • wound healing Source: Ensembl

Keywordsi

Molecular functionBlood group antigen
Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-1237044. Erythrocytes take up carbon dioxide and release oxygen.
R-HSA-1247673. Erythrocytes take up oxygen and release carbon dioxide.
R-HSA-432040. Vasopressin regulates renal water homeostasis via Aquaporins.
R-HSA-432047. Passive transport by Aquaporins.
SIGNORiP29972.

Protein family/group databases

TCDBi1.A.8.8.1. the major intrinsic protein (mip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Aquaporin-1
Short name:
AQP-1
Alternative name(s):
Aquaporin-CHIP
Urine water channel
Water channel protein for red blood cells and kidney proximal tubule
Gene namesi
Name:AQP1
Synonyms:CHIP28
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000240583.10.
HGNCiHGNC:633. AQP1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 7Cytoplasmic1 Publication6
Transmembranei8 – 36Helical; Name=Helix 1Add BLAST29
Topological domaini37 – 48Extracellular1 PublicationAdd BLAST12
Transmembranei49 – 66Helical; Name=Helix 2Add BLAST18
Topological domaini67 – 70Cytoplasmic1 Publication4
Intramembranei71 – 766
Intramembranei77 – 84Helical; Name=Helix B8
Topological domaini85 – 94Cytoplasmic1 Publication10
Transmembranei95 – 115Helical; Name=Helix 3Add BLAST21
Topological domaini116 – 136Extracellular1 PublicationAdd BLAST21
Transmembranei137 – 155Helical; Name=Helix 4Add BLAST19
Topological domaini156 – 166Cytoplasmic1 PublicationAdd BLAST11
Transmembranei167 – 183Helical; Name=Helix 5Add BLAST17
Topological domaini184 – 186Extracellular1 Publication3
Intramembranei187 – 1926
Intramembranei193 – 200Helical; Name=Helix E8
Topological domaini201 – 207Extracellular1 Publication7
Transmembranei208 – 228Helical; Name=Helix 6Add BLAST21
Topological domaini229 – 269Cytoplasmic1 PublicationAdd BLAST41

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi358.
MIMi110450. phenotype.
OpenTargetsiENSG00000240583.
PharmGKBiPA24918.

Chemistry databases

DrugBankiDB00819. Acetazolamide.

Polymorphism and mutation databases

BioMutaiAQP1.
DMDMi267412.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000639202 – 269Aquaporin-1Add BLAST268

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi42N-linked (GlcNAc...) asparagine1
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei247PhosphoserineBy similarity1
Modified residuei253PhosphotyrosineBy similarity1
Modified residuei262PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP29972.
PeptideAtlasiP29972.
PRIDEiP29972.

PTM databases

iPTMnetiP29972.
PhosphoSitePlusiP29972.

Expressioni

Tissue specificityi

Detected in erythrocytes (at protein level). Expressed in a number of tissues including erythrocytes, renal tubules, retinal pigment epithelium, heart, lung, skeletal muscle, kidney and pancreas. Weakly expressed in brain, placenta and liver.1 Publication

Gene expression databases

BgeeiENSG00000240583.
CleanExiHS_AQP1.
ExpressionAtlasiP29972. baseline and differential.
GenevisibleiP29972. HS.

Organism-specific databases

HPAiCAB001707.
HPA019206.

Interactioni

Subunit structurei

Homotetramer. Interacts with EPHB2; involved in endolymph production in the inner ear (By similarity). Identified in a complex with STOM.By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106854. 45 interactors.
CORUMiP29972.
DIPiDIP-29607N.
IntActiP29972. 96 interactors.
MINTiMINT-1439356.
STRINGi9606.ENSP00000311165.

Chemistry databases

BindingDBiP29972.

Structurei

Secondary structure

1269
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi6 – 32Combined sources27
Beta strandi35 – 37Combined sources3
Beta strandi39 – 43Combined sources5
Helixi49 – 67Combined sources19
Turni68 – 70Combined sources3
Helixi77 – 85Combined sources9
Helixi93 – 115Combined sources23
Turni135 – 138Combined sources4
Helixi139 – 142Combined sources4
Turni143 – 146Combined sources4
Helixi147 – 155Combined sources9
Helixi168 – 174Combined sources7
Helixi176 – 182Combined sources7
Turni183 – 186Combined sources4
Helixi193 – 197Combined sources5
Beta strandi200 – 203Combined sources4
Turni207 – 210Combined sources4
Helixi211 – 214Combined sources4
Helixi217 – 228Combined sources12
Turni229 – 231Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FQYX-ray3.80A1-269[»]
1H6IX-ray3.54A1-269[»]
1IH5X-ray3.70A1-269[»]
4CSKX-ray3.28A1-269[»]
ProteinModelPortaliP29972.
SMRiP29972.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP29972.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi76 – 78NPA 13
Motifi192 – 194NPA 23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi159 – 162Poly-Arg4

Domaini

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 similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0223. Eukaryota.
COG0580. LUCA.
GeneTreeiENSGT00760000119223.
HOGENOMiHOG000288286.
HOVERGENiHBG000312.
InParanoidiP29972.
KOiK09864.
OMAiELFGTFW.
OrthoDBiEOG091G166T.
PhylomeDBiP29972.
TreeFamiTF312940.

Family and domain databases

CDDicd00333. MIP. 1 hit.
Gene3Di1.20.1080.10. 1 hit.
InterProiView protein in InterPro
IPR023271. Aquaporin-like.
IPR023274. Aquaporin_1.
IPR034294. Aquaporin_transptr.
IPR000425. MIP.
IPR022357. MIP_CS.
PANTHERiPTHR19139. PTHR19139. 1 hit.
PfamiView protein in Pfam
PF00230. MIP. 1 hit.
PRINTSiPR02013. AQUAPORIN1.
PR00783. MINTRINSICP.
SUPFAMiSSF81338. SSF81338. 1 hit.
TIGRFAMsiTIGR00861. MIP. 1 hit.
PROSITEiView protein in PROSITE
PS00221. MIP. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P29972-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MASEFKKKLF WRAVVAEFLA TTLFVFISIG SALGFKYPVG NNQTAVQDNV
60 70 80 90 100
KVSLAFGLSI ATLAQSVGHI SGAHLNPAVT LGLLLSCQIS IFRALMYIIA
110 120 130 140 150
QCVGAIVATA ILSGITSSLT GNSLGRNDLA DGVNSGQGLG IEIIGTLQLV
160 170 180 190 200
LCVLATTDRR RRDLGGSAPL AIGLSVALGH LLAIDYTGCG INPARSFGSA
210 220 230 240 250
VITHNFSNHW IFWVGPFIGG ALAVLIYDFI LAPRSSDLTD RVKVWTSGQV
260
EEYDLDADDI NSRVEMKPK
Length:269
Mass (Da):28,526
Last modified:January 23, 2007 - v3
Checksum:iBA204D82FB26352E
GO
Isoform 2 (identifier: P29972-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: MASEFKKKLF...KYPVGNNQTA → MPGARPLPLV...LGRVGPGSRQ
     46-128: Missing.

Note: No experimental confirmation available.
Show »
Length:186
Mass (Da):19,956
Checksum:i5C132B4A21FCC8BC
GO
Isoform 3 (identifier: P29972-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: MASEFKKKLF...LTGNSLGRND → MFWTFGYEAV...LGRVGPGSRQ

Note: Gene prediction based on EST data.
Show »
Length:218
Mass (Da):23,425
Checksum:i409D14C5A0F352CE
GO
Isoform 4 (identifier: P29972-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MASEFKKKLFWRA → MQSGMGWNVLDFW
     14-128: Missing.

Note: Gene prediction based on EST data.
Show »
Length:154
Mass (Da):16,677
Checksum:i764FA0B49CB3B1FE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45A → T in AAH22486 (PubMed:15489334).Curated1

Polymorphismi

AQP1 is responsible for the Colton blood group system. Approximately 92% of Caucasians are Co(A+B-) (Ala-46), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-46). Co(A-B-) which is very rare, is due to a complete absence of AQP1.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01327938P → L in Co(A-B-) antigen; non functional AQP1; red cells show low osmotic water permeability. 1 PublicationCorresponds to variant dbSNP:rs104894004Ensembl.1
Natural variantiVAR_00440045A → V in Co(A-B+) antigen. 2 PublicationsCorresponds to variant dbSNP:rs28362692Ensembl.1
Natural variantiVAR_022318165G → D1 PublicationCorresponds to variant dbSNP:rs28362731Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0466791 – 128MASEF…LGRND → MFWTFGYEAVSPAGPSHLFA SLLLGVLLTITFMPGARPLP LVLVPQNTLAWMQLDAKAPA HPRPLQLLGRVGPGSRQ in isoform 3. CuratedAdd BLAST128
Alternative sequenceiVSP_0461091 – 45MASEF…NNQTA → MPGARPLPLVLVPQNTLAWM QLDAKAPAHPRPLQLLGRVG PGSRQ in isoform 2. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_0466801 – 13MASEF…LFWRA → MQSGMGWNVLDFW in isoform 4. CuratedAdd BLAST13
Alternative sequenceiVSP_04668114 – 128Missing in isoform 4. CuratedAdd BLAST115
Alternative sequenceiVSP_04611046 – 128Missing in isoform 2. 1 PublicationAdd BLAST83

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77829 mRNA. Translation: AAA58425.1.
U41517 mRNA. Translation: AAC50648.1.
U41518 mRNA. Translation: AAC50649.1.
S73482 mRNA. Translation: AAB31193.1.
AK309608 mRNA. No translation available.
AY953319 Genomic DNA. Translation: AAX24129.1.
AC004691 Genomic DNA. Translation: AAC16481.1.
AC005155 Genomic DNA. Translation: AAC23788.1.
AB451275 mRNA. Translation: BAG70089.1.
AB451402 mRNA. Translation: BAG70216.1.
CH471073 Genomic DNA. Translation: EAW93971.1.
BC022486 mRNA. Translation: AAH22486.1.
AF480415 Genomic DNA. Translation: AAL87136.1.
CCDSiCCDS5431.1. [P29972-1]
PIRiA41616.
I52366.
RefSeqiNP_932766.1. NM_198098.3. [P29972-1]
UniGeneiHs.76152.

Genome annotation databases

EnsembliENST00000311813; ENSP00000311165; ENSG00000240583. [P29972-1]
ENST00000409611; ENSP00000387178; ENSG00000240583. [P29972-3]
ENST00000409899; ENSP00000386712; ENSG00000240583. [P29972-4]
ENST00000441328; ENSP00000405698; ENSG00000240583. [P29972-2]
GeneIDi358.
KEGGihsa:358.
UCSCiuc003tbv.3. human. [P29972-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAQP1_HUMAN
AccessioniPrimary (citable) accession number: P29972
Secondary accession number(s): B5BU39
, E7EM69, E9PC21, F5GY19, Q8TBI5, Q8TDC1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: January 23, 2007
Last modified: September 27, 2017
This is version 198 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  8. SIMILARITY comments
    Index of protein domains and families