Akvaporin 2

Akvaporin 2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4OJ2, 4NEF
Identifikatori
Aliasi	AQP2
Vanjski ID-jevi	OMIM: 107777 MGI: 1096865 HomoloGene: 20137 GeneCards: AQP2
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	49,958,878 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	99,482,428 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• transporter activity; • glycerol transmembrane transporter activity; • water transmembrane transporter activity; • water channel activity; • GO:0001948, GO:0016582 vezivanje za proteine; • channel activity;
Ćelijska komponenta	• integral component of membrane; • reciklirajući endosom; • Golđijev aparat; • membrana; • ćelijska membrana; • transport vesicle membrane; • basolateral plasma membrane; • apical plasma membrane; • Egzosom; • cytoplasmic vesicle membrane; • GO:0016023 citoplazmatska vezikula; • integral component of plasma membrane; • lumenal side of membrane;
Biološki proces	• cellular response to mercury ion; • izlučivanje; • water transport; • ion transmembrane transport; • renal water transport; • renal water homeostasis; • cellular response to copper ion; • metanephric collecting duct development; • cellular response to water deprivation; • glycerol transport; • GO:0015915 transport; • transmembrane transport; • protein homotetramerization;
	Izvori:Amigo / QuickGO
Ortolozi
	359
	11827
	ENSG00000167580
	ENSMUSG00000023013
	P41181
	P56402
	NM_000486
	NM_009699
	NP_000477
	NP_033829
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Akvaporin-2 (AQP-2) je integralni membranski protein, koji se nalazi u apikalnim ćelijskim membranama glavnih ćelija bubrežnih sabirnih kanala i u unutarčelijskim vezikulama koje se nalaze u cijeloj ćeliji. Kodira ga AQP2 gen,sa hromosoma 12.

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 271 aminokiselina, a molekulska težina 28.837 Da.

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MWELRSIAFS	RAVFAEFLAT	LLFVFFGLGS	ALNWPQALPS	VLQIAMAFGL
GIGTLVQALG	HISGAHINPA	VTVACLVGCH	VSVLRAAFYV	AAQLLGAVAG
AALLHEITPA	DIRGDLAVNA	LSNSTTAGQA	VTVELFLTLQ	LVLCIFASTD
ERRGENPGTP	ALSIGFSVAL	GHLLGIHYTG	CSMNPARSLA	PAVVTGKFDD
HWVFWIGPLV	GAILGSLLYN	YVLFPPAKSL	SERLAVLKGL	EPDTDWEERE
VRRRQSVELH	SPQSLPRGTK	A

Regulacija[uredi | uredi izvor]

To je jedini akvaporin koji regulira vazopresin.^[5] Osnovna funkcija akvaporina 2 je da reapsorbuje vodu iz urina dok je bubrezi uklanjaju iz krvi. Akvaporin 2 se nalazi u epitelnim ćelijama bubrega i obično miruje u unutarćelijskim membranama vezikula. Kada je potrebno, vazopresin se veže za vazopresinski receptor na površini ćelije aktivirajući tako signalni put koji uzrokuje spajanje vezikula sa akvaporinom 2 s plazmamembranom, tako da ćelija može koristiti akvaporin 2.^[6] Ovaj akvaporin reguliše peptidni hormon vazopresin na dva načina:

kratkoročna regulacija (minuta) prometom AQP2 vezikula u apikalnu regiju, gdje se spajaju s apikalnom plazmamembranom
dugoročna regulacija (dani), povećanjem ekspresije gena AQP2.

Ovaj akvaporin se takođe reguliše unosom hrane. Post smanjuje ekspresiju ovog akvaporina nezavisno od vazopresina.

Klinički značaj[uredi | uredi izvor]

Mutacije u ovom kanalu su povezane sa nefrogenim dijabetesom insipidusom, koji može biti autosomno dominantan ili recesivan. Mutacije u receptoru vazopresina uzrokuju sličan fenotip povezan s X-om.

Litij, koji se često koristi za liječenje bipolarnog poremećaja, može uzrokovati stečeni diabetes insipidus (karakteriziran izlučivanjem velikih količina razrijeđenog urina) smanjenjem ekspresije gena "AQP2".

Ekspresija gena AQP2 je povećana tokom stanja povezanih sa zadržavanjem vode kao što su trudnoća i kongestivna srčana insuficijencija.

Također pogledajte[uredi | uredi izvor]

Akvaporin

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167580 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023013 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Dibas AI, Mia AJ, Yorio T (decembar 1998). "Aquaporins (water channels): role in vasopressin-activated water transport". Proceedings of the Society for Experimental Biology and Medicine. 219 (3): 183–99. doi:10.3181/00379727-219-44332. PMID 9824541. S2CID 28952956.
^ Lodish H, Berk A, Kaiser CA, Krieger M, Scott MP, Bretscher A, Ploegh H, Matsudaira P (2008). Molecular Cell Biology (6th izd.). New York: Freeman. str. 445. ISBN 978-0-7167-7601-7.

Dopunska literatura[uredi | uredi izvor]

Bichet DG (april 2006). "Nephrogenic diabetes insipidus" (PDF). Advances in Chronic Kidney Disease. 13 (2): 96–104. doi:10.1053/j.ackd.2006.01.006. PMID 16580609. Arhivirano s originala (PDF), 18. 7. 2018.
Bouley R, Hasler U, Lu HA, Nunes P, Brown D (maj 2008). "Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus". Seminars in Nephrology. 28 (3): 266–78. doi:10.1016/j.semnephrol.2008.03.010. PMC 2494582. PMID 18519087.
Robben JH, Knoers NV, Deen PM (august 2006). "Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus" (PDF). American Journal of Physiology. Renal Physiology. 291 (2): F257–70. doi:10.1152/ajprenal.00491.2005. hdl:2066/50267. PMID 16825342. S2CID 15392.
Sasaki S, Fushimi K, Saito H, Saito F, Uchida S, Ishibashi K, Kuwahara M, Ikeuchi T, Inui K, Nakajima K (mart 1994). "Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct". The Journal of Clinical Investigation. 93 (3): 1250–6. doi:10.1172/JCI117079. PMC 294077. PMID 7510718.
Deen PM, Weghuis DO, Sinke RJ, Geurts van Kessel A, Wieringa B, van Os CH (1994). "Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13". Cytogenetics and Cell Genetics. 66 (4): 260–2. doi:10.1159/000133707. PMID 7512890.
Uchida S, Sasaki S, Fushimi K, Marumo F (septembar 1994). "Isolation of human aquaporin-CD gene". The Journal of Biological Chemistry. 269 (38): 23451–5. doi:10.1016/S0021-9258(17)31537-5. PMID 7522228.
van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM (oktobar 1994). "Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene". American Journal of Human Genetics. 55 (4): 648–52. PMC 1918308. PMID 7524315.
Saito F, Sasaki S, Chepelinsky AB, Fushimi K, Marumo F, Ikeuchi T (1994). "Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two-color FISH". Cytogenetics and Cell Genetics. 68 (1–2): 45–8. doi:10.1159/000133885. PMID 7525161.
Nielsen S, Chou CL, Marples D, Christensen EI, Kishore BK, Knepper MA (februar 1995). "Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane". Proceedings of the National Academy of Sciences of the United States of America. 92 (4): 1013–7. Bibcode:1995PNAS...92.1013N. doi:10.1073/pnas.92.4.1013. PMC 42627. PMID 7532304.
Brown D (maj 2003). "The ins and outs of aquaporin-2 trafficking". American Journal of Physiology. Renal Physiology. 284 (5): F893–901. doi:10.1152/ajprenal.00387.2002. PMID 12676734.
Maruyama K, Sugano S (januar 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA (april 1994). "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine". Science. 264 (5155): 92–5. Bibcode:1994Sci...264...92D. doi:10.1126/science.8140421. PMID 8140421.
Oksche A, Möller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, Rosenthal W (novembar 1996). "Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus". Human Genetics. 98 (5): 587–9. doi:10.1007/s004390050264. PMID 8882880. S2CID 27581991.
Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wühl E, Schober E, Rijss JP, Van Os CH, Deen PM (februar 1997). "New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels". Journal of the American Society of Nephrology. 8 (2): 242–8. doi:10.1681/ASN.V82242. hdl:2066/24513. PMID 9048343.
Ma T, Yang B, Umenishi F, Verkman AS (august 1997). "Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13". Genomics. 43 (3): 387–9. doi:10.1006/geno.1997.4836. PMID 9268644.
Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ (oktobar 1997). "Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response". Human Molecular Genetics. 6 (11): 1865–71. doi:10.1093/hmg/6.11.1865. PMID 9302264.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Déchaux M, Antignac C (decembar 1997). "Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus". Journal of the American Society of Nephrology. 8 (12): 1855–62. doi:10.1681/ASN.V8121855. PMID 9402087.
Kuwahara M (februar 1998). "Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus". Internal Medicine. 37 (2): 215–7. doi:10.2169/internalmedicine.37.215. PMID 9550615.
Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM (juli 1998). "An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex". The Journal of Clinical Investigation. 102 (1): 57–66. doi:10.1172/JCI2605. PMC 509065. PMID 9649557.
Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S (septembar 1998). "Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function". The Journal of Clinical Endocrinology and Metabolism. 83 (9): 3205–9. doi:10.1210/jcem.83.9.5074. PMID 9745427. S2CID 1074523.
Saito T, Ishikawa S, Ito T, Oda H, Ando F, Higashiyama M, Nagasaka S, Hieda M, Saito T (juni 1999). "Urinary excretion of aquaporin-2 water channel differentiates psychogenic polydipsia from central diabetes insipidus". The Journal of Clinical Endocrinology and Metabolism. 84 (6): 2235–7. doi:10.1210/jcem.84.6.5715. PMID 10372737.

Vanjski linkovi[uredi | uredi izvor]

GeneReviews/NCBI/NIH/UW entry on Nephrogenic Diabetes Insipidus
Aquaporin 2 na US National Library of Medicine Medical Subject Headings (MeSH)
Lokacija ljudskog genoma AQP2 i stranica sa detaljima o genu AQP2 u UCSC Genome Browseru.
P41181

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000167580 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000023013 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9824541-5] Dibas AI, Mia AJ, Yorio T (decembar 1998). "Aquaporins (water channels): role in vasopressin-activated water transport". Proceedings of the Society for Experimental Biology and Medicine. 219 (3): 183–99. doi:10.3181/00379727-219-44332. PMID 9824541. S2CID 28952956.

[6] Lodish H, Berk A, Kaiser CA, Krieger M, Scott MP, Bretscher A, Ploegh H, Matsudaira P (2008). Molecular Cell Biology (6th izd.). New York: Freeman. str. 445. ISBN 978-0-7167-7601-7.

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