Description: Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA. RefSeq Summary (NM_178817): This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]. Transcript (Including UTRs) Position: hg19 chr21:33,664,124-33,684,599 Size: 20,476 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr21:33,679,022-33,684,307 Size: 5,286 Coding Exon Count: 2
ID:MRAP_HUMAN DESCRIPTION: RecName: Full=Melanocortin-2 receptor accessory protein; AltName: Full=B27; AltName: Full=Fat cell-specific low molecular weight protein; AltName: Full=Fat tissue-specific low MW protein; FUNCTION: Required for MC2R expression in certain cell types, suggesting that it is involved in the processing, trafficking or function of MC2R. May be involved in the intracellular trafficking pathways in adipocyte cells. SUBUNIT: Interacts with MC2R. SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasm (By similarity). Cell membrane. Endoplasmic reticulum. Note=Concentrated at the perinuclear membrane region. Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm (By similarity). Localizes both to plasma membrane and endoplasmic reticulum. TISSUE SPECIFICITY: Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues. DISEASE: Defects in MRAP are the cause of glucocorticoid deficiency type 2 (GCCD2) [MIM:607398]; also known as familial glucocorticoid deficiency type 2 (FGD2). GCCD2 is an autosomal recessive disorder due to congenital insensitivity or resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without mineralocorticoid deficiency. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRAP";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q8TCY5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
