UniProt functional annotation for Q01718



	UniProt functional annotation for Q01718

UniProt code: Q01718.

Organism: Homo sapiens (Human).

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

Function: Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP). {ECO:0000269|PubMed:19329486, ECO:0000269|PubMed:20371771}.

Subunit: Interacts with MRAP; increasing ligand-sensitivity and generation of cAMP. Interacts with MRAP2; competing with MRAP for binding to MC2R and impairing the binding of corticotropin (ACTH). {ECO:0000269|PubMed:15654338, ECO:0000269|PubMed:19329486, ECO:0000269|PubMed:20371771}.

Subcellular location: Cell membrane; Multi-pass membrane protein.

Tissue specificity: Melanocytes and corticoadrenal tissue.

Disease: Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269|PubMed:10971458, ECO:0000269|PubMed:12213892, ECO:0000269|PubMed:8094489, ECO:0000269|PubMed:8227361, ECO:0000269|PubMed:8636348}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. {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 corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP). {ECO:0000269\|PubMed:19329486, ECO:0000269\|PubMed:20371771}.


Subunit:		Interacts with MRAP; increasing ligand-sensitivity and generation of cAMP. Interacts with MRAP2; competing with MRAP for binding to MC2R and impairing the binding of corticotropin (ACTH). {ECO:0000269\|PubMed:15654338, ECO:0000269\|PubMed:19329486, ECO:0000269\|PubMed:20371771}.
Subcellular location:		Cell membrane; Multi-pass membrane protein.
Tissue specificity:		Melanocytes and corticoadrenal tissue.
Disease:		Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. {ECO:0000269\|PubMed:10971458, ECO:0000269\|PubMed:12213892, ECO:0000269\|PubMed:8094489, ECO:0000269\|PubMed:8227361, ECO:0000269\|PubMed:8636348}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. {ECO:0000255\|PROSITE-ProRule:PRU00521}.