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Q8TCY5

- MRAP_HUMAN

UniProt

Q8TCY5 - MRAP_HUMAN

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Protein

Melanocortin-2 receptor accessory protein

Gene
MRAP, C21orf61, FALP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

  1. corticotropin hormone receptor binding Source: BHF-UCL
  2. type 1 melanocortin receptor binding Source: BHF-UCL
  3. type 3 melanocortin receptor binding Source: BHF-UCL
  4. type 4 melanocortin receptor binding Source: BHF-UCL
  5. type 5 melanocortin receptor binding Source: BHF-UCL

GO - Biological processi

  1. brown fat cell differentiation Source: Ensembl
  2. positive regulation of cAMP biosynthetic process Source: BHF-UCL
  3. protein localization to cell surface Source: BHF-UCL
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:1304. MRAP.

Subcellular locationi

Cell membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein
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 (1 Publication). Upon insulin stimulation, it is redistributed into spotty structures throughout the cytoplasm.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei38 – 5821Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: BHF-UCL
  2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glucocorticoid deficiency 2 (GCCD2) [MIM:607398]: A rare, potentially lethal, 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi607398. phenotype.
Orphaneti361. Familial glucocorticoid deficiency.
PharmGKBiPA25856.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 172172Melanocortin-2 receptor accessory proteinPRO_0000096570Add
BLAST

Proteomic databases

PRIDEiQ8TCY5.

PTM databases

PhosphoSiteiQ8TCY5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8TCY5.
CleanExiHS_MRAP.
GenevestigatoriQ8TCY5.

Organism-specific databases

HPAiHPA011024.
HPA011093.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi121114. 2 interactions.
DIPiDIP-29948N.
STRINGi9606.ENSP00000306697.

Structurei

3D structure databases

ProteinModelPortaliQ8TCY5.

Family & Domainsi

Sequence similaritiesi

Belongs to the MRAP family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG28578.
HOGENOMiHOG000113646.
HOVERGENiHBG052507.
InParanoidiQ8TCY5.
OMAiPWSHSLN.
OrthoDBiEOG7VMP86.
PhylomeDBiQ8TCY5.
TreeFamiTF338691.

Family and domain databases

InterProiIPR028111. MRAP.
[Graphical view]
PfamiPF15183. MRAP. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

MANGTNASAP YYSYEYYLDY LDLIPVDEKK LKAHKHSIVI AFWVSLAAFV    50
VLLFLILLYM SWSASPQMRN SPKHHQTCPW SHGLNLHLCI QKCLPCHREP 100
LATSQAQASS VEPGSRTGPD QPLRQESSST LPLGGFQTHP TLLWELTLNG 150
GPLVRSKPSE PPPGDRTSQL QS 172
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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5959Missing in isoform 3. VSP_003862Add
BLAST
Alternative sequencei68 – 681M → MR in isoform 1. VSP_021020
Alternative sequencei69 – 10133RNSPK…HREPL → SFNTDESLLHSEVLPQTRAI SCDELQAPREEGAA in isoform 2. VSP_003863Add
BLAST
Alternative sequencei102 – 17271Missing in isoform 2. VSP_003864Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006724028.1. [Q8TCY5-4]
UniGeneiHs.584940.

Genome annotation databases

EnsembliENST00000303645; ENSP00000306697; ENSG00000170262. [Q8TCY5-4]
ENST00000339944; ENSP00000343661; ENSG00000170262. [Q8TCY5-2]
ENST00000399784; ENSP00000382684; ENSG00000170262. [Q8TCY5-4]
ENST00000399786; ENSP00000382686; ENSG00000170262. [Q8TCY5-2]
GeneIDi56246.
KEGGihsa:56246.
UCSCiuc002ypj.3. human. [Q8TCY5-4]
uc002ypk.3. human. [Q8TCY5-2]

Polymorphism databases

DMDMi116242634.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006724028.1. [Q8TCY5-4 ]
UniGenei Hs.584940.

3D structure databases

ProteinModelPortali Q8TCY5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121114. 2 interactions.
DIPi DIP-29948N.
STRINGi 9606.ENSP00000306697.

PTM databases

PhosphoSitei Q8TCY5.

Polymorphism databases

DMDMi 116242634.

Proteomic databases

PRIDEi Q8TCY5.

Protocols and materials databases

DNASUi 56246.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303645 ; ENSP00000306697 ; ENSG00000170262 . [Q8TCY5-4 ]
ENST00000339944 ; ENSP00000343661 ; ENSG00000170262 . [Q8TCY5-2 ]
ENST00000399784 ; ENSP00000382684 ; ENSG00000170262 . [Q8TCY5-4 ]
ENST00000399786 ; ENSP00000382686 ; ENSG00000170262 . [Q8TCY5-2 ]
GeneIDi 56246.
KEGGi hsa:56246.
UCSCi uc002ypj.3. human. [Q8TCY5-4 ]
uc002ypk.3. human. [Q8TCY5-2 ]

Organism-specific databases

CTDi 56246.
GeneCardsi GC21P033664.
HGNCi HGNC:1304. MRAP.
HPAi HPA011024.
HPA011093.
MIMi 607398. phenotype.
609196. gene.
neXtProti NX_Q8TCY5.
Orphaneti 361. Familial glucocorticoid deficiency.
PharmGKBi PA25856.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG28578.
HOGENOMi HOG000113646.
HOVERGENi HBG052507.
InParanoidi Q8TCY5.
OMAi PWSHSLN.
OrthoDBi EOG7VMP86.
PhylomeDBi Q8TCY5.
TreeFami TF338691.

Miscellaneous databases

GenomeRNAii 56246.
NextBioi 61872.
PROi Q8TCY5.
SOURCEi Search...

Gene expression databases

Bgeei Q8TCY5.
CleanExi HS_MRAP.
Genevestigatori Q8TCY5.

Family and domain databases

InterProi IPR028111. MRAP.
[Graphical view ]
Pfami PF15183. MRAP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of novel putative membrane proteins selectively expressed during adipose conversion of 3T3-L1 cells."
    Xu A., Choi K.-L., Wang Y., Permana P.A., Xu L.Y., Bogardus C., Cooper G.J.S.
    Biochem. Biophys. Res. Commun. 293:1161-1167(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Adipocyte.
  2. "Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis."
    Gardiner K., Slavov D., Bechtel L., Davisson M.
    Genomics 79:833-843(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
    Tissue: Brain.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Thyroid.
  4. Cited for: FUNCTION, SUBUNIT, INTERACTION WITH MC1R; MC2R; MC3R; MC4R; MC5R AND MRAP2.
  5. "Regulation of G protein-coupled receptor signaling: specific dominant-negative effects of melanocortin 2 receptor accessory protein 2."
    Sebag J.A., Hinkle P.M.
    Sci. Signal. 3:RA28-RA28(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, TOPOLOGY, INTERACTION WITH MC2R AND MRAP2.
  6. "Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2."
    Metherell L.A., Chapple J.P., Cooray S., David A., Becker C., Rueschendorf F., Naville D., Begeot M., Khoo B., Nuernberg P., Huebner A., Cheetham M.E., Clark A.J.L.
    Nat. Genet. 37:166-170(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN GCCD2, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH MC2R.

Entry informationi

Entry nameiMRAP_HUMAN
AccessioniPrimary (citable) accession number: Q8TCY5
Secondary accession number(s): Q5EBR3
, Q8TDB7, Q8WXC1, Q8WXC2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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