InnateDB Protein
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IDBP-1659.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MRAP
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Protein Name
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melanocortin 2 receptor accessory protein
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000306697
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InnateDB Gene
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IDBG-1657 (MRAP)
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Protein Structure
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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}.
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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}.
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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.
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Tissue Specificity |
Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues. {ECO:0000269PubMed:15654338}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0031780
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corticotropin hormone receptor binding
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GO:0031781
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type 3 melanocortin receptor binding
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GO:0031782
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type 4 melanocortin receptor binding
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GO:0031783
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type 5 melanocortin receptor binding
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GO:0070996
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type 1 melanocortin receptor binding
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Biological Process |
GO:0030819
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positive regulation of cAMP biosynthetic process
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GO:0034394
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protein localization to cell surface
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8TCY5
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PhosphoSite |
PhosphoSite-Q8TCY5
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
56246
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UniGene |
Hs.584940
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RefSeq |
NP_001272323
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HUGO |
HGNC:1304
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OMIM |
609196
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CCDS |
CCDS13613
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HPRD |
10758
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IMGT |
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EMBL |
AF454915
AF454916
AF483549
AY079152
BC062721
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GenPept |
AAH62721
AAL51048
AAL51049
AAL80042
AAL86908
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