UniProt functional annotation for P01189



	UniProt functional annotation for P01189

UniProt code: P01189.

Organism: Homo sapiens (Human).

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

Function: [Corticotropin]: Stimulates the adrenal glands to release cortisol.

Function: [Melanocyte-stimulating hormone alpha]: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.

Function: [Melanocyte-stimulating hormone beta]: Increases the pigmentation of skin by increasing melanin production in melanocytes.

Function: [Beta-endorphin]: Endogenous orexigenic opiate.

Function: [Met-enkephalin]: Endogenous opiate.

Subcellular location: Secreted {ECO:0000250|UniProtKB:P01193}. Note=Melanocyte-stimulating hormone alpha and beta-endorphin are stored in separate granules in hypothalamic POMC neurons, suggesting that secretion may be under the control of different regulatory mechanisms. {ECO:0000250|UniProtKB:P01193}.

Tissue specificity: ACTH and MSH are produced by the pituitary gland.

Ptm: Specific enzymatic cleavages at paired basic residues yield the different active peptides. {ECO:0000269|PubMed:2839146}.

Ptm: O-glycosylated; reducing sugar is probably N-acetylgalactosamine.

Disease: Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269|PubMed:12165561}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Disease: Obesity, early-onset, with adrenal insufficiency and red hair (OBAIRH) [MIM:609734]: An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. {ECO:0000269|PubMed:9620771}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the POMC family. {ECO:0000305}.

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:		[Corticotropin]: Stimulates the adrenal glands to release cortisol.



Function:		[Melanocyte-stimulating hormone alpha]: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.



Function:		[Melanocyte-stimulating hormone beta]: Increases the pigmentation of skin by increasing melanin production in melanocytes.



Function:		[Beta-endorphin]: Endogenous orexigenic opiate.



Function:		[Met-enkephalin]: Endogenous opiate.


Subcellular location:		Secreted {ECO:0000250\|UniProtKB:P01193}. Note=Melanocyte-stimulating hormone alpha and beta-endorphin are stored in separate granules in hypothalamic POMC neurons, suggesting that secretion may be under the control of different regulatory mechanisms. {ECO:0000250\|UniProtKB:P01193}.
Tissue specificity:		ACTH and MSH are produced by the pituitary gland.
Ptm:		Specific enzymatic cleavages at paired basic residues yield the different active peptides. {ECO:0000269\|PubMed:2839146}.
Ptm:		O-glycosylated; reducing sugar is probably N-acetylgalactosamine.
Disease:		Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269\|PubMed:12165561}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Disease:		Obesity, early-onset, with adrenal insufficiency and red hair (OBAIRH) [MIM:609734]: An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. {ECO:0000269\|PubMed:9620771}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the POMC family. {ECO:0000305}.