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FLASH GENE

Symbol

AQP1

contributors: mct/npt - updated : 11-02-2014

HGNC name	aquaporin 1 (Colton blood group)
HGNC id	633

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six transmembrane segments (TM6)
	intracellular N and C termini
	two N-glycosylation sites
	C-terminal tail of AQP1 contains putative calcium (EF-hand) and protein binding sites

conjugated

GlycoP

mono polymer

homomer , tetramer

HOMOLOGY

Homologene

FAMILY

MIP/aquaporin family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	at the apical and basolateral membrane of intercalated duct cells of pancreas
	at the skeletal myofiber plasma membrane (Jimi 2007)
	highly expressed in tissues with rapid O(2) transport
	localized to the cytoplasm and cell membrane of some medium and small-sized trigeminal neuron

basic FUNCTION	involved in transcellular endothelial fluid transport
	playing a role in cell migration and vessel formation
	may have a role during osmotic stresses including ischemia/reperfusion and cardiopulmonary by pass
	‘‘orthodox’’aquaporin, that transport only water molecules (Sorani 2008)
	represents an important distinguishing characteristic of olfactory ensheathing glia, which may impart unique function to these glia
	play pivotal roles in cerebral water movement as essential mediators during edema and fluid accumulation
	in inner ear plays an important role in the development of motion sickness (MS)
	critical participate in regulating endothelial permeability and barrier function, providing direct evidence of the contribution of AQP1 to blood vessel formation
	involvement of AQP1 in oral sensory transduction
	constitutively open channel that closes mediated by membrane-tension increments
	plays a crucial role in estrogen-induced tubulogenesis of vascular endothelial cells
	cooperative role of AQP1 and SLC4A11 in mediating trans-endothelial water reabsorption
	controls potentially both proliferation and migration in pulmonary arterial smooth muscle cell (PASMC) and the mechanism requires the C-terminal tail of the protein but is independent of water transport or the EF-hand motif
	endothelial expression of AQP1 characterizes the atheroprotected, non-inflamed vessel wall

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	water channel

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with SCN10A (tunes pain perception by interaction with SCN10A in dorsal root ganglion neurons) (Zhang 2010)
	NFAT5 is necessary for the regulation of AQP1 expression in the inner medulla of the kidney under hypertonic conditions
	HIF1A participates in the hypoxic induction of AQP1

cell & other

REGULATION

activated by

in response to hypertonicity

induced by

Estrogen (induces AQP1 expression by activating ERE in the promoter of the AQP1 gene, resulting in tubulogenesis of vascular endothelial cells)

Other

its activity as a cGMP-gated cation channel is regulated by tyrosine phosphorylation in the C-terminal domain

ASSOCIATED DISORDERS

corresponding disease(s)

CO

related resource

Blood Group Antigen Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   alteration of its expression in fetal membranes and placenta may be important in the pathophysiology of isolated oligohydramnios constitutional     --low   in ischemia, hypoxia and cardioplegia constitutional     --over   in the cerebrospinal fluid of bacterial meningitis patients constitutional     --low   in the alveolar microvessels may act as a compensatory mechanism to protect against formation of excessive pulmonary edema in chronic heart failure (CHF tumoral     --over   may play an important role in the ovarian carcinogenesis, progression, and ascites formation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma sSuppression of AQP1 expression could be a potential means of reducing invasion of glioma cells neurosensorial ear   appear to be important for the development of novel drug therapies for Meniere's disease and related disorders miscelleaneous pain   novel target for pain management cancer lung   potential role of AQP1 or AQP4 as novel therapeutic targets for the management of lung cancer miscelleaneous pain   potential therapeutic target for migraine with aura

ANIMAL & CELL MODELS