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

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

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

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

Akvaporin

Reference

^ ^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

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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.
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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.
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Vanjski linkovi

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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