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FLASH GENE

Symbol

AQP5

contributors: mct - updated : 17-11-2010

HGNC name	aquaporin 5
HGNC id	638

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PPK1B palmoplantar keratoderma (hyperkeratosis), Bothnian type
Location	12q13.12      Physical location : 50.355.278 - 50.359.461
Synonym name	aquaporin 5, water channel forming integral protein
Synonym symbol(s)	AQP-5

DNA

TYPE	functioning gene
STRUCTURE	4.33 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	. three putative Sp1/Sp3 binding elements (SBEs), which are highly conserved
	a putative CpG island in the promoter (hypo-methylated state of the promoter leading to increased Sp1 binding may play a role in regulation of cell type-specific expression)

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001651 4 - 1835 NP_001642 - 265 - 1999 10527857

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Homo sapiens Hearing/Equilibrium ear inner cochlea     Homo sapiens Nervous nerve cranial nerve     highly Respiratory lung alveoli     highly Homo sapiens   lung         Homo sapiens Skin/Tegument skin appendages skin gland sweat gland     Urinary kidney       highly Homo sapiens Visual eye anterior segment cornea     Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum granulosum   Homo sapiens Adult Epithelial barrier/lining corneal epithelium   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune dendritic cell Lymphoid/Immune lymphocyte Respiratory alveolar cell type 1 Homo sapiens

cell lineage
cell lines
fluid/secretion	released into human saliva

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

MIP protein domain

HOMOLOGY

interspecies

homolog to rattus Aqp5

Homologene

FAMILY

MIP family

CATEGORY

protooncogene , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	at the apical and basolateral membrane of intercalated duct cells of pancreas
	in plasma membranes of sweat glands
	polarized expression in the apical plasma membrane of the outer sulcus cells
	highly expressed at the apical membrane of alveolar type I epithelial cells
	distributed in the apical plasma membrane and is known as an exocrine-type water-channel protein because of its involvement in the excretion of water from exocrine glands, such as the salivary gland, lacrimal gland, and sweat gland
	strongly localized to the plasma membrane in the keratinocytes of the stratum granulosum

basic FUNCTION	‘‘orthodox’’aquaporin, that transport only water molecules
	plays an important role in human carcinogenesis
	water channel proteins which participate in a wide array of physiological processes and are primary determinants of membrane osmotic water permeability
	water channel forming integral protein
	putatively involved in low frequency hearing and in cellular trafficking of lacrimal gland
	may participate in the regulation of paracellular permeability
	playing an essential role in secretion, providing potential insight into mechanisms underlying mammalian thermoregulation, tactile sensitivity, and the pathophysiology of hyperhidrosis
	AQP5 targeting can involve more than one pathway and it can be constitutively expressed on the plasma membrane, irrespective of PKA dependent phosphorylation
	playing a role for in cell-cell interactions and may contribute to regulation of paracellular permeability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

GATA6 which mediates transcriptional activation of aquaporin-5 through interactions with Sp1

Other

regulated by shear stress

ASSOCIATED DISORDERS

corresponding disease(s)

PPK1B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function defective cellular trafficking of AQP5 in the lacrimal glands of Sjogren syndrome tumoral     --over   in lung cancer tissue associated with poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene	for Sjögren's syndrome (SJGS)
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial     aquaporins appear to be important for the development of novel drug therapies for Meniere's disease and related disorders cancer     attractive therapeutic target in carcinogenesis

ANIMAL & CELL MODELS