MRAP
entrez
56246
canonical
uniprot
Q8TCY5
canonical
ensembl
ENSG00000170262
resolver
ensp
ENSP00000306697
resolver
ensp
ENSP00000343661
resolver
ensp
ENSP00000382684
resolver
genesymbol
MRAP
resolver
genesymbol_syn
C21orf61
resolver
genesymbol_syn
FALP
resolver
hgnc
HGNC:1304
resolver
uniprot
Q5EBR3
resolver
uniprot
Q8TDB7
resolver
uniprot
Q8WXC1
resolver
uniprot
Q8WXC2
resolver
uniprot_entry
MRAP_HUMAN
resolver
uniprot_sec
Q5EBR3
resolver
uniprot_sec
Q8TDB7
resolver
uniprot_sec
Q8WXC1
resolver
uniprot_sec
Q8WXC2
resolver
amino_acid_sequence
MANGTNASAPYYSYEYYLDYLDLIPVDEKKLKAHKHSIVIAFWVSLAAFVVLLFLILLYMSWSASPQMRNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPLATSQAQASSVEPGSRTGPDQPLRQESSSTLPLGGFQTHPTLLWELTLNGGPLVRSKPSEPPPGDRTSQLQS
uniprot
proteins
disease_involvement
DISEASE: Glucocorticoid deficiency 2 (GCCD2) [MIM:607398]: 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:15654338}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:15654338, ECO:0000269|PubMed:19329486, ECO:0000269|PubMed:20371771}.
uniprot
proteins
mass_dalton
19136
uniprot
proteins
protein_family
MRAP family
uniprot
proteins
pubmed
12036298
uniprot
proteins
pubmed
12054497
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15654338
uniprot
proteins
pubmed
19329486
uniprot
proteins
pubmed
20371771
uniprot
proteins
sequence_length
172
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15654338}; Single-pass membrane protein {ECO:0000269|PubMed:15654338}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15654338}; Single-pass membrane protein {ECO:0000269|PubMed: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:0000269|PubMed:20371771}.
uniprot
proteins
transmembrane_region
TRANSMEM 38..58; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins