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Protein

Aquaporin-1

Gene

AQP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.1 Publication

Sites

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

GO - Molecular functioni

GO - Biological processi

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
MIMi107776 gene
neXtProtiNX_P29972

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
ProteomicsDBi54613

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 Expressed in 222 organ(s), highest expression level in right lung
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106854, 46 interactors
CORUMiP29972
DIPiDIP-29607N
IntActiP29972, 141 interactors
MINTiP29972
STRINGi9606.ENSP00000311165

Chemistry databases

BindingDBiP29972

Structurei

Secondary structure

1269
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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 [MIMi:110450]. Approximately 92% of Caucasians are Co(A+B-) (Ala-45), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-45). Co(A-B-) which is very rare, is due to a complete absence of AQP1.2 Publications

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:rs104894004EnsemblClinVar.1
Natural variantiVAR_00440045A → V in Co(A-B+) antigen. 2 PublicationsCorresponds to variant dbSNP:rs28362692EnsemblClinVar.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

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs
Protein Spotlight

Liquid states - Issue 36 of July 2003

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

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...

Protein-protein interaction databases

BioGridi106854, 46 interactors
CORUMiP29972
DIPiDIP-29607N
IntActiP29972, 141 interactors
MINTiP29972
STRINGi9606.ENSP00000311165

Chemistry databases

BindingDBiP29972
DrugBankiDB00819 Acetazolamide

Protein family/group databases

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

PTM databases

iPTMnetiP29972
PhosphoSitePlusiP29972

Polymorphism and mutation databases

BioMutaiAQP1
DMDMi267412

Proteomic databases

PaxDbiP29972
PeptideAtlasiP29972
PRIDEiP29972
ProteomicsDBi54613

Protocols and materials databases

DNASUi358
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi358
DisGeNETi358
EuPathDBiHostDB:ENSG00000240583.10
GeneCardsiAQP1
HGNCiHGNC:633 AQP1
HPAiCAB001707
HPA019206
MIMi107776 gene
110450 phenotype
neXtProtiNX_P29972
OpenTargetsiENSG00000240583
PharmGKBiPA24918
GenAtlasiSearch...

Phylogenomic databases

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

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

Miscellaneous databases

ChiTaRSiAQP1 human
EvolutionaryTraceiP29972
GeneWikiiAquaporin_1
GenomeRNAii358
PROiPR:P29972
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000240583 Expressed in 222 organ(s), highest expression level in right lung
CleanExiHS_AQP1
ExpressionAtlasiP29972 baseline and differential
GenevisibleiP29972 HS

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
ProtoNetiSearch...

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: October 10, 2018
This is version 208 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  8. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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Main funding by: National Institutes of Health

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