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Protein

Aquaporin-1

Gene

AQP1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei56Substrate discrimination1
Sitei180Substrate discrimination1
Sitei189Hg(2+)-sensitive residue1
Sitei195Substrate discrimination1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionBlood group antigen
Biological processTransport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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

SIGNOR Signaling Network Open Resource

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SIGNORi
P29972

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.8.8.1 the major intrinsic protein (mip) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AQP1
Synonyms:CHIP28
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000240583.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:633 AQP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
107776 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P29972

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 7Cytoplasmic1 Publication6
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei8 – 36Helical; Name=Helix 1Add BLAST29
Topological domaini37 – 48Extracellular1 PublicationAdd BLAST12
Transmembranei49 – 66Helical; Name=Helix 2Add BLAST18
Topological domaini67 – 70Cytoplasmic1 Publication4
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
358

MalaCards human disease database

More...
MalaCardsi
AQP1
MIMi110450 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000240583

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24918

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00819 Acetazolamide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AQP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
267412

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000639202 – 269Aquaporin-1Add BLAST268

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi42N-linked (GlcNAc...) asparagine1
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei247PhosphoserineBy similarity1
Modified residuei253PhosphotyrosineBy similarity1
Modified residuei262PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P29972

PeptideAtlas

More...
PeptideAtlasi
P29972

PRoteomics IDEntifications database

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PRIDEi
P29972

ProteomicsDB human proteome resource

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ProteomicsDBi
54613

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P29972

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P29972

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000240583 Expressed in 222 organ(s), highest expression level in right lung

CleanEx database of gene expression profiles

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CleanExi
HS_AQP1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P29972 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P29972 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB001707
HPA019206

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106854, 46 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P29972

Database of interacting proteins

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DIPi
DIP-29607N

Protein interaction database and analysis system

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IntActi
P29972, 141 interactors

Molecular INTeraction database

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MINTi
P29972

STRING: functional protein association networks

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STRINGi
9606.ENSP00000311165

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P29972

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P29972

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P29972

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P29972

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi76 – 78NPA 13
Motifi192 – 194NPA 23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi159 – 162Poly-Arg4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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).

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0223 Eukaryota
COG0580 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157015

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000288286

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000312

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P29972

KEGG Orthology (KO)

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KOi
K09864

Identification of Orthologs from Complete Genome Data

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OMAi
ELFGTFW

Database of Orthologous Groups

More...
OrthoDBi
EOG091G166T

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P29972

TreeFam database of animal gene trees

More...
TreeFami
TF312940

Family and domain databases

Conserved Domains Database

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CDDi
cd00333 MIP, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1080.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR023271 Aquaporin-like
IPR023274 Aquaporin_1
IPR034294 Aquaporin_transptr
IPR000425 MIP
IPR022357 MIP_CS

The PANTHER Classification System

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PANTHERi
PTHR19139 PTHR19139, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00230 MIP, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR02013 AQUAPORIN1
PR00783 MINTRINSICP

Superfamily database of structural and functional annotation

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SUPFAMi
SSF81338 SSF81338, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00861 MIP, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00221 MIP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti45A → T in AAH22486 (PubMed:15489334).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS5431.1 [P29972-1]

Protein sequence database of the Protein Information Resource

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PIRi
A41616
I52366

NCBI Reference Sequences

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RefSeqi
NP_932766.1, NM_198098.3 [P29972-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.76152

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311813; ENSP00000311165; ENSG00000240583 [P29972-1]
ENST00000409611; ENSP00000387178; ENSG00000240583 [P29972-3]
ENST00000409899; ENSP00000386712; ENSG00000240583 [P29972-4]
ENST00000441328; ENSP00000405698; ENSG00000240583 [P29972-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
358

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:358

UCSC genome browser

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UCSCi
uc003tbv.3 human [P29972-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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

The DNASU plasmid repository

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DNASUi
358
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

Comparative Toxicogenomics Database

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CTDi
358
DisGeNETi358
EuPathDBiHostDB:ENSG00000240583.10

GeneCards: human genes, protein and diseases

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GeneCardsi
AQP1
HGNCiHGNC:633 AQP1
HPAiCAB001707
HPA019206
MalaCardsiAQP1
MIMi107776 gene
110450 phenotype
neXtProtiNX_P29972
OpenTargetsiENSG00000240583
PharmGKBiPA24918

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0223 Eukaryota
COG0580 LUCA
GeneTreeiENSGT00940000157015
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
AQP1 human
EvolutionaryTraceiP29972

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Aquaporin_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
358

Protein Ontology

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PROi
PR:P29972

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAQP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P29972
Secondary accession number(s): B5BU39
, E7EM69, E9PC21, F5GY19, Q8TBI5, Q8TDC1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: January 23, 2007
Last modified: December 5, 2018
This is version 210 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or 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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