Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 362
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol AQP5   Gene   UCSC   Ensembl
Aliases AQP-5, PPKB
Gene name aquaporin 5
Alternate names aquaporin-5,
Gene location 12q13.12 (49961495: 49965681)     Exons: 5     NC_000012.12
Gene summary(Entrez) Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
OMIM 600442

Protein Summary

Protein general information P55064  

Name: Aquaporin 5 (AQP 5)

Length: 265  Mass: 28,292

Sequence MKKEVCSVAFLKAVFAEFLATLIFVFFGLGSALKWPSALPTILQIALAFGLAIGTLAQALGPVSGGHINPAITLA
LLVGNQISLLRAFFYVAAQLVGAIAGAGILYGVAPLNARGNLAVNALNNNTTQGQAMVVELILTFQLALCIFAST
DSRRTSPVGSPALSIGLSVTLGHLVGIYFTGCSMNPARSFGPAVVMNRFSPAHWVFWVGPIVGAVLAAILYFYLL
FPNSLSLSERVAIIKGTYEPDEDWEEQREERKKTMELTTR
Structural information

Motifs
NPA 1(69-71)
NPA 2.(185-187)
Interpro:  IPR023271 IPR023276 IPR034294 IPR000425 IPR022357
Prosite:   PS00221

Pfam:  
PF00230
CDD:   cd00333

PDB:  
3D9S 5C5X 5DYE
PDBsum:   3D9S 5C5X 5DYE

DIP:  
46292
MINT:   1442891
STRING:   ENSP00000293599;
Other Databases GeneCards:  AQP5;  Malacards:  AQP5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005902 microvillus
IEA cellular_component
GO:0006833 water transport
TAS biological_process
GO:0007588 excretion
TAS biological_process
GO:0009925 basal plasma membrane
IEA cellular_component
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
IDA molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0015670 carbon dioxide transport
IDA biological_process
GO:0015793 glycerol transport
IEA biological_process
GO:0016324 apical plasma membrane
IDA cellular_component
GO:0030157 pancreatic juice secretio
n
IEP biological_process
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0042476 odontogenesis
IEP biological_process
GO:0046541 saliva secretion
IEA biological_process
GO:0048593 camera-type eye morphogen
esis
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005215 transporter activity
IEA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0005902 microvillus
IEA cellular_component
GO:0006810 transport
IEA biological_process
GO:0006810 transport
IEA biological_process
GO:0006833 water transport
IEA biological_process
GO:0006833 water transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0007588 excretion
TAS biological_process
GO:0009925 basal plasma membrane
IEA cellular_component
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
IDA molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
TAS molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0015670 carbon dioxide transport
IEA biological_process
GO:0015670 carbon dioxide transport
IDA biological_process
GO:0015793 glycerol transport
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016324 apical plasma membrane
IDA cellular_component
GO:0030157 pancreatic juice secretio
n
IEP biological_process
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0042476 odontogenesis
IEP biological_process
GO:0046541 saliva secretion
IEA biological_process
GO:0048593 camera-type eye morphogen
esis
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006833 water transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0007588 excretion
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
IDA molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
TAS molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0015670 carbon dioxide transport
IDA biological_process
GO:0016324 apical plasma membrane
IDA cellular_component
GO:0030157 pancreatic juice secretio
n
IEP biological_process
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0042476 odontogenesis
IEP biological_process
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04970  Salivary secretion

Diseases

Associated diseases References
Azoospermia PMID: 17928628
Coronary artery disease PMID: 18846354
Endometriosis PMID: 19931078
Palmoplantar keratoderma OMIM: 600442, KEGG: H01673
Endometriosis INFBASE19931078

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19931078 Endometrio
sis

70 women with e
ndometriomas
Aquaporins 2
5
8
Show abstract