Entity Details

Primary name MRAP_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TCY5
EntryNameMRAP_HUMAN
FullNameMelanocortin-2 receptor accessory protein
TaxID9606
Evidenceevidence at protein level
Length172
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesMRAP

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0030545 signaling receptor regulator activity
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:0042802 identical protein binding
GO:0043231 intracellular membrane-bounded organelle
GO:0070996 type 1 melanocortin receptor binding
GO:0072659 protein localization to plasma membrane
GO:0106070 regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0106071 positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0106072 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:1903077 negative regulation of protein localization to plasma membrane

Subcellular Location

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Subcellular Location
Cell membrane
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR028111 Melanocortin-2 receptor accessory protein familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
607398 OMIMGlucocorticoid deficiency 2 (GCCD2)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. The disease is caused by variants affecting the gene represented in this entry.