UniProt functional annotation for P30518



	UniProt functional annotation for P30518

UniProt code: P30518.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. {ECO:0000269|PubMed:19440390}.

Subunit: Interacts with ARRDC4 (PubMed:23236378). Identified in a complex containing at least ARRDC4, V2R and HGS (PubMed:23236378). Interacts with TMEM147 (PubMed:21056967). {ECO:0000269|PubMed:21056967, ECO:0000269|PubMed:23236378}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:23236378}; Multi-pass membrane protein {ECO:0000305}.

Tissue specificity: Kidney.

Disease: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]: Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. {ECO:0000269|PubMed:15872203}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. {ECO:0000269|PubMed:10694923, ECO:0000269|PubMed:10770218, ECO:0000269|PubMed:11026555, ECO:0000269|PubMed:11232028, ECO:0000269|PubMed:11916004, ECO:0000269|PubMed:1303257, ECO:0000269|PubMed:1303271, ECO:0000269|PubMed:1356229, ECO:0000269|PubMed:16845277, ECO:0000269|PubMed:7560098, ECO:0000269|PubMed:7833930, ECO:0000269|PubMed:7984150, ECO:0000269|PubMed:7987330, ECO:0000269|PubMed:7999078, ECO:0000269|PubMed:8037205, ECO:0000269|PubMed:8045948, ECO:0000269|PubMed:8078903, ECO:0000269|PubMed:8267567, ECO:0000269|PubMed:8479490, ECO:0000269|PubMed:8514744, ECO:0000269|PubMed:9402087, ECO:0000269|PubMed:9452109, ECO:0000269|PubMed:9711877}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. {ECO:0000255|PROSITE- ProRule:PRU00521}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. {ECO:0000269\|PubMed:19440390}.


Subunit:		Interacts with ARRDC4 (PubMed:23236378). Identified in a complex containing at least ARRDC4, V2R and HGS (PubMed:23236378). Interacts with TMEM147 (PubMed:21056967). {ECO:0000269\|PubMed:21056967, ECO:0000269\|PubMed:23236378}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:23236378}; Multi-pass membrane protein {ECO:0000305}.
Tissue specificity:		Kidney.
Disease:		Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]: Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. {ECO:0000269\|PubMed:15872203}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. {ECO:0000269\|PubMed:10694923, ECO:0000269\|PubMed:10770218, ECO:0000269\|PubMed:11026555, ECO:0000269\|PubMed:11232028, ECO:0000269\|PubMed:11916004, ECO:0000269\|PubMed:1303257, ECO:0000269\|PubMed:1303271, ECO:0000269\|PubMed:1356229, ECO:0000269\|PubMed:16845277, ECO:0000269\|PubMed:7560098, ECO:0000269\|PubMed:7833930, ECO:0000269\|PubMed:7984150, ECO:0000269\|PubMed:7987330, ECO:0000269\|PubMed:7999078, ECO:0000269\|PubMed:8037205, ECO:0000269\|PubMed:8045948, ECO:0000269\|PubMed:8078903, ECO:0000269\|PubMed:8267567, ECO:0000269\|PubMed:8479490, ECO:0000269\|PubMed:8514744, ECO:0000269\|PubMed:9402087, ECO:0000269\|PubMed:9452109, ECO:0000269\|PubMed:9711877}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. {ECO:0000255\|PROSITE- ProRule:PRU00521}.