MRAP
Melanocortin-2 receptor accessory protein
Also known as: B27, C21orf61, FALP, MRAP_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TCY5
- Gene
- MRAP
- Ensembl
- ENSG00000170262
- Chromosome
- 21
- Canonical length
- 172 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Vesicles
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
172 residues, UniProt reviewed canonical sequence.
>Q8TCY5|MRAP
1 MANGTNASAP YYSYEYYLDY LDLIPVDEKK LKAHKHSIVI AFWVSLAAFV VLLFLILLYM
61 SWSASPQMRN SPKHHQTCPW SHGLNLHLCI QKCLPCHREP LATSQAQASS VEPGSRTGPD
121 QPLRQESSST LPLGGFQTHP TLLWELTLNG GPLVRSKPSE PPPGDRTSQL QSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MRAP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.66
- Highest tissue expression
- 155 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 155 nTPM
- adipose tissue: 74 nTPM
- breast: 45 nTPM
- blood vessel: 14 nTPM
- choroid plexus: 3.5 nTPM
- liver: 2.3 nTPM
Single-cell type
- epicardial cells: 86 nCPM
- adrenal cortex cells: 38 nCPM
- retinal horizontal cells: 34 nCPM
- cardiomyocytes: 30 nCPM
- adipocytes: 29 nCPM
- late primary spermatocytes: 18 nCPM
Immune cell
- NK-cell: 1.9 nTPM
- naive B-cell: 0.8 nTPM
- memory B-cell: 0.7 nTPM
- T-reg: 0.7 nTPM
- naive CD8 T-cell: 0.5 nTPM
- plasmacytoid DC: 0.5 nTPM
Brain region
- choroid plexus: 2.3 nTPM
- medulla oblongata: 1.3 nTPM
- cerebral cortex: 1 nTPM
- hippocampal formation: 1 nTPM
- basal ganglia: 0.9 nTPM
- pons: 0.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MRAP.
Disease | AllUniProt
Conditions MRAP is implicated in, by any mechanism.
- Glucocorticoid deficiency 2 (GCCD2) MIM:607398
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 79 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Glucocorticoid deficiency 2
- Glucocorticoid deficiency 1
- MRAP-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.78
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.07
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
- negative regulation of protein localization to plasma membrane
- positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
- protein localization to plasma membrane
- regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway
Molecular functions
- corticotropin hormone receptor binding
- identical protein binding
- signaling receptor regulator activity
- type 1 melanocortin receptor binding
- type 3 melanocortin receptor binding
- type 4 melanocortin receptor binding
- type 5 melanocortin receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MRAP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MRAP as an antibody target. Whether an autoantibody or antibody against MRAP could matter depends on whether native MRAP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MRAP is annotated at the cell surface, where native MRAP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MRAP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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