UniProtKB - Q8TCY5 (MRAP_HUMAN)
Protein
Melanocortin-2 receptor accessory protein
Gene
MRAP
Organism
Homo sapiens (Human)
Status
Functioni
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.3 Publications
GO - Molecular functioni
- corticotropin hormone receptor binding Source: BHF-UCL
- identical protein binding Source: IntAct
- receptor regulator activity Source: GO_Central
- type 1 melanocortin receptor binding Source: BHF-UCL
- type 3 melanocortin receptor binding Source: BHF-UCL
- type 4 melanocortin receptor binding Source: BHF-UCL
- type 5 melanocortin receptor binding Source: BHF-UCL
GO - Biological processi
- negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: BHF-UCL
- negative regulation of protein localization to plasma membrane Source: BHF-UCL
- positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: BHF-UCL
- protein localization to plasma membrane Source: BHF-UCL
- regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q8TCY5 |
SIGNORi | Q8TCY5 |
Names & Taxonomyi
Protein namesi | Recommended name: Melanocortin-2 receptor accessory proteinAlternative name(s): B27 Fat cell-specific low molecular weight protein Fat tissue-specific low MW protein |
Gene namesi | Name:MRAP Synonyms:C21orf61, FALP |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1304, MRAP |
MIMi | 609196, gene |
neXtProti | NX_Q8TCY5 |
VEuPathDBi | HostDB:ENSG00000170262.12 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass membrane protein 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass membrane protein 1 Publication
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.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: BHF-UCL
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: BHF-UCL
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 38 – 58 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Glucocorticoid deficiency 2 (GCCD2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 56246 |
MalaCardsi | MRAP |
MIMi | 607398, phenotype |
OpenTargetsi | ENSG00000170262 |
Orphaneti | 361, Familial glucocorticoid deficiency |
PharmGKBi | PA25856 |
Miscellaneous databases
Pharosi | Q8TCY5, Tbio |
Genetic variation databases
BioMutai | MRAP |
DMDMi | 116242634 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000096570 | 1 – 172 | Melanocortin-2 receptor accessory proteinAdd BLAST | 172 |
Proteomic databases
PaxDbi | Q8TCY5 |
PRIDEi | Q8TCY5 |
ProteomicsDBi | 74191 [Q8TCY5-4] 74192 [Q8TCY5-1] 74193 [Q8TCY5-2] 74194 [Q8TCY5-3] |
PTM databases
iPTMneti | Q8TCY5 |
PhosphoSitePlusi | Q8TCY5 |
Expressioni
Tissue specificityi
Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.1 Publication
Gene expression databases
Bgeei | ENSG00000170262, Expressed in right adrenal gland and 118 other tissues |
Genevisiblei | Q8TCY5, HS |
Organism-specific databases
HPAi | ENSG00000170262, Group enriched (adipose tissue, adrenal gland, breast) |
Interactioni
Subunit structurei
Homodimer and heterodimer.
Forms antiparallel homodimers and heterodimers with MRAP2.
Interacts with MC1R, MC2R, MC3R, MC4R and MC5R.
3 PublicationsBinary interactionsi
Hide detailsQ8TCY5
Isoform 1 [Q8TCY5-1]
With | #Exp. | IntAct |
---|---|---|
MC2R [Q01718] | 3 | EBI-21991233,EBI-9537171 |
GO - Molecular functioni
- corticotropin hormone receptor binding Source: BHF-UCL
- identical protein binding Source: IntAct
- type 1 melanocortin receptor binding Source: BHF-UCL
- type 3 melanocortin receptor binding Source: BHF-UCL
- type 4 melanocortin receptor binding Source: BHF-UCL
- type 5 melanocortin receptor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 121114, 3 interactors |
DIPi | DIP-29948N |
IntActi | Q8TCY5, 9 interactors |
MINTi | Q8TCY5 |
STRINGi | 9606.ENSP00000382684 |
Miscellaneous databases
RNActi | Q8TCY5, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the MRAP family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502SB3E, Eukaryota |
GeneTreei | ENSGT00650000093475 |
HOGENOMi | CLU_133578_0_0_1 |
InParanoidi | Q8TCY5 |
OMAi | HPTCPWS |
OrthoDBi | 1583183at2759 |
PhylomeDBi | Q8TCY5 |
TreeFami | TF338691 |
Family and domain databases
InterProi | View protein in InterPro IPR028111, MRAP |
PANTHERi | PTHR28675, PTHR28675, 1 hit |
Pfami | View protein in Pfam PF15183, MRAP, 1 hit |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketIsoform 4 (identifier: Q8TCY5-4) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MANGTNASAP YYSYEYYLDY LDLIPVDEKK LKAHKHSIVI AFWVSLAAFV
60 70 80 90 100
VLLFLILLYM SWSASPQMRN SPKHHQTCPW SHGLNLHLCI QKCLPCHREP
110 120 130 140 150
LATSQAQASS VEPGSRTGPD QPLRQESSST LPLGGFQTHP TLLWELTLNG
160 170
GPLVRSKPSE PPPGDRTSQL QS
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003862 | 1 – 59 | Missing in isoform 3. 1 PublicationAdd BLAST | 59 | |
Alternative sequenceiVSP_021020 | 68 | M → MR in isoform 1. 1 Publication | 1 | |
Alternative sequenceiVSP_003863 | 69 – 101 | RNSPK…HREPL → SFNTDESLLHSEVLPQTRAI SCDELQAPREEGAA in isoform 2. 1 PublicationAdd BLAST | 33 | |
Alternative sequenceiVSP_003864 | 102 – 172 | Missing in isoform 2. 1 PublicationAdd BLAST | 71 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF483549 mRNA Translation: AAL86908.1 AY079152 mRNA Translation: AAL80042.1 AF454915 mRNA Translation: AAL51048.1 AF454916 mRNA Translation: AAL51049.1 BC062721 mRNA Translation: AAH62721.1 |
CCDSi | CCDS13612.1 [Q8TCY5-2] CCDS13613.1 [Q8TCY5-4] |
RefSeqi | NP_001272323.1, NM_001285394.1 [Q8TCY5-3] NP_848932.1, NM_178817.3 [Q8TCY5-4] NP_996781.1, NM_206898.1 [Q8TCY5-2] XP_006724091.1, XM_006724028.3 XP_016883896.1, XM_017028407.1 [Q8TCY5-2] |
Genome annotation databases
Ensembli | ENST00000303645; ENSP00000306697; ENSG00000170262 [Q8TCY5-4] ENST00000339944; ENSP00000343661; ENSG00000170262 [Q8TCY5-2] ENST00000399784; ENSP00000382684; ENSG00000170262 [Q8TCY5-4] |
GeneIDi | 56246 |
KEGGi | hsa:56246 |
UCSCi | uc002ypj.4, human [Q8TCY5-4] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF483549 mRNA Translation: AAL86908.1 AY079152 mRNA Translation: AAL80042.1 AF454915 mRNA Translation: AAL51048.1 AF454916 mRNA Translation: AAL51049.1 BC062721 mRNA Translation: AAH62721.1 |
CCDSi | CCDS13612.1 [Q8TCY5-2] CCDS13613.1 [Q8TCY5-4] |
RefSeqi | NP_001272323.1, NM_001285394.1 [Q8TCY5-3] NP_848932.1, NM_178817.3 [Q8TCY5-4] NP_996781.1, NM_206898.1 [Q8TCY5-2] XP_006724091.1, XM_006724028.3 XP_016883896.1, XM_017028407.1 [Q8TCY5-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121114, 3 interactors |
DIPi | DIP-29948N |
IntActi | Q8TCY5, 9 interactors |
MINTi | Q8TCY5 |
STRINGi | 9606.ENSP00000382684 |
PTM databases
iPTMneti | Q8TCY5 |
PhosphoSitePlusi | Q8TCY5 |
Genetic variation databases
BioMutai | MRAP |
DMDMi | 116242634 |
Proteomic databases
PaxDbi | Q8TCY5 |
PRIDEi | Q8TCY5 |
ProteomicsDBi | 74191 [Q8TCY5-4] 74192 [Q8TCY5-1] 74193 [Q8TCY5-2] 74194 [Q8TCY5-3] |
Protocols and materials databases
Antibodypediai | 22543, 134 antibodies |
DNASUi | 56246 |
Genome annotation databases
Ensembli | ENST00000303645; ENSP00000306697; ENSG00000170262 [Q8TCY5-4] ENST00000339944; ENSP00000343661; ENSG00000170262 [Q8TCY5-2] ENST00000399784; ENSP00000382684; ENSG00000170262 [Q8TCY5-4] |
GeneIDi | 56246 |
KEGGi | hsa:56246 |
UCSCi | uc002ypj.4, human [Q8TCY5-4] |
Organism-specific databases
CTDi | 56246 |
DisGeNETi | 56246 |
GeneCardsi | MRAP |
HGNCi | HGNC:1304, MRAP |
HPAi | ENSG00000170262, Group enriched (adipose tissue, adrenal gland, breast) |
MalaCardsi | MRAP |
MIMi | 607398, phenotype 609196, gene |
neXtProti | NX_Q8TCY5 |
OpenTargetsi | ENSG00000170262 |
Orphaneti | 361, Familial glucocorticoid deficiency |
PharmGKBi | PA25856 |
VEuPathDBi | HostDB:ENSG00000170262.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SB3E, Eukaryota |
GeneTreei | ENSGT00650000093475 |
HOGENOMi | CLU_133578_0_0_1 |
InParanoidi | Q8TCY5 |
OMAi | HPTCPWS |
OrthoDBi | 1583183at2759 |
PhylomeDBi | Q8TCY5 |
TreeFami | TF338691 |
Enzyme and pathway databases
PathwayCommonsi | Q8TCY5 |
SIGNORi | Q8TCY5 |
Miscellaneous databases
BioGRID-ORCSi | 56246, 4 hits in 871 CRISPR screens |
ChiTaRSi | MRAP, human |
GenomeRNAii | 56246 |
Pharosi | Q8TCY5, Tbio |
PROi | PR:Q8TCY5 |
RNActi | Q8TCY5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170262, Expressed in right adrenal gland and 118 other tissues |
Genevisiblei | Q8TCY5, HS |
Family and domain databases
InterProi | View protein in InterPro IPR028111, MRAP |
PANTHERi | PTHR28675, PTHR28675, 1 hit |
Pfami | View protein in Pfam PF15183, MRAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MRAP_HUMAN | |
Accessioni | Q8TCY5Primary (citable) accession number: Q8TCY5 Secondary accession number(s): Q5EBR3 Q8WXC2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2002 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 10, 2021 | |
This is version 149 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families