InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MRAP

Summary

InnateDB Protein

IDBP-229800.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MRAP

Protein Name

melanocortin 2 receptor accessory protein

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000382684

InnateDB Gene

IDBG-1657 (MRAP)

Protein Structure

UniProt Annotation

Function

Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells. {ECO:0000269PubMed:15654338, ECO:0000269PubMed:19329486, ECO:0000269PubMed:20371771}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:15654338}; Single-pass membrane protein {ECO:0000269PubMed:15654338}. Endoplasmic reticulum membrane {ECO:0000269PubMed:15654338}; Single-pass membrane protein {ECO:0000269PubMed:15654338}. Note=The formation of antiparallel homo- and heterodimers suggest that N- and C-terminus can both localize in the cytoplasmic and extracellular parts, depending on the context (PubMed:20371771). Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm. {ECO:0000269PubMed:20371771}.

Disease Associations

Glucocorticoid deficiency 2 (GCCD2) [MIM:607398]: A rare, potentially lethal, 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:0000269PubMed:15654338}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues. {ECO:0000269PubMed:15654338}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0031780	corticotropin hormone receptor binding
GO:0031781	type 3 melanocortin receptor binding
GO:0031782	type 4 melanocortin receptor binding
GO:0031783	type 5 melanocortin receptor binding
GO:0070996	type 1 melanocortin receptor binding