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Protein

Melanocortin-2 receptor accessory protein

Gene

MRAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
  • 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

Enzyme and pathway databases

SIGNORiQ8TCY5

Names & Taxonomyi

Protein namesi
Recommended name:
Melanocortin-2 receptor accessory protein
Alternative name(s):
B27
Fat cell-specific low molecular weight protein
Fat tissue-specific low MW protein
Gene namesi
Name:MRAP
Synonyms:C21orf61, FALP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000170262.12
HGNCiHGNC:1304 MRAP
MIMi609196 gene
neXtProtiNX_Q8TCY5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei38 – 58HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glucocorticoid deficiency 2 (GCCD2)1 Publication
The disease is caused by mutations 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.
See also OMIM:607398

Organism-specific databases

DisGeNETi56246
MalaCardsiMRAP
MIMi607398 phenotype
OpenTargetsiENSG00000170262
Orphaneti361 Familial glucocorticoid deficiency
PharmGKBiPA25856

Polymorphism and mutation databases

BioMutaiMRAP
DMDMi116242634

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000965701 – 172Melanocortin-2 receptor accessory proteinAdd BLAST172

Proteomic databases

PaxDbiQ8TCY5
PRIDEiQ8TCY5

PTM databases

iPTMnetiQ8TCY5
PhosphoSitePlusiQ8TCY5

Expressioni

Tissue specificityi

Expressed in adrenal cortex, testis, breast, thyroid, lymph node, ovary and fat. Expressed in adipose tissues.1 Publication

Gene expression databases

BgeeiENSG00000170262
CleanExiHS_MRAP
GenevisibleiQ8TCY5 HS

Organism-specific databases

HPAiHPA011024

Interactioni

Subunit structurei

Homodimer and heterodimer. Forms antiparallel homodimers and heterodimers with MRAP2. Interacts with MC1R, MC2R, MC3R, MC4R and MC5R.3 Publications

Binary interactionsi

Show more details

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

BioGridi1211142 interactors.
DIPiDIP-29948N
IntActiQ8TCY5 6 interactors.
STRINGi9606.ENSP00000306697

Structurei

3D structure databases

ProteinModelPortaliQ8TCY5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MRAP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J5NI Eukaryota
ENOG410ZAA2 LUCA
GeneTreeiENSGT00650000093475
HOGENOMiHOG000113646
HOVERGENiHBG052507
InParanoidiQ8TCY5
KOiK22398
OMAiCPWSHSL
OrthoDBiEOG091G0YHB
PhylomeDBiQ8TCY5
TreeFamiTF338691

Family and domain databases

InterProiView protein in InterPro
IPR028111 MRAP
PfamiView protein in Pfam
PF15183 MRAP, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 4 (identifier: Q8TCY5-4) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:172
Mass (Da):19,136
Last modified:October 17, 2006 - v2
Checksum:i9F93F39B40FAAFEA
GO
Isoform 1 (identifier: Q8TCY5-1) [UniParc]FASTAAdd to basket
Also known as: Alpha, MRAP-alpha

The sequence of this isoform differs from the canonical sequence as follows:
     68-68: M → MR

Show »
Length:173
Mass (Da):19,292
Checksum:i7F6A2A3D99045107
GO
Isoform 2 (identifier: Q8TCY5-2) [UniParc]FASTAAdd to basket
Also known as: Beta, MRAP-beta

The sequence of this isoform differs from the canonical sequence as follows:
     69-101: RNSPKHHQTCPWSHGLNLHLCIQKCLPCHREPL → SFNTDESLLHSEVLPQTRAISCDELQAPREEGAA
     102-172: Missing.

Show »
Length:102
Mass (Da):11,519
Checksum:i7FA8FCF335B43DA3
GO
Isoform 3 (identifier: Q8TCY5-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: Missing.

Show »
Length:113
Mass (Da):12,338
Checksum:i968FDEF0D68ECCCA
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0038621 – 59Missing in isoform 3. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_02102068M → MR in isoform 1. 1 Publication1
Alternative sequenceiVSP_00386369 – 101RNSPK…HREPL → SFNTDESLLHSEVLPQTRAI SCDELQAPREEGAA in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_003864102 – 172Missing in isoform 2. 1 PublicationAdd BLAST71

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
CCDSiCCDS13612.1 [Q8TCY5-2]
CCDS13613.1 [Q8TCY5-4]
RefSeqiNP_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 [Q8TCY5-4]
XP_016883896.1, XM_017028407.1 [Q8TCY5-2]
UniGeneiHs.584940

Genome annotation databases

EnsembliENST00000303645; ENSP00000306697; ENSG00000170262 [Q8TCY5-4]
ENST00000339944; ENSP00000343661; ENSG00000170262 [Q8TCY5-2]
ENST00000399784; ENSP00000382684; ENSG00000170262 [Q8TCY5-4]
GeneIDi56246
KEGGihsa:56246
UCSCiuc002ypj.4 human [Q8TCY5-4]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMRAP_HUMAN
AccessioniPrimary (citable) accession number: Q8TCY5
Secondary accession number(s): Q5EBR3
, Q8TDB7, Q8WXC1, Q8WXC2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 17, 2006
Last modified: March 28, 2018
This is version 130 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome