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Q8TCY5

- MRAP_HUMAN

UniProt

Q8TCY5 - MRAP_HUMAN

Protein

Melanocortin-2 receptor accessory protein

Gene

MRAP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    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 1 Publication; Single-pass membrane protein 1 Publication. 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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MRAP2Q96G302EBI-9538727,EBI-9537218

    Protein-protein interaction databases

    BioGridi121114. 2 interactions.
    DIPiDIP-29948N.
    IntActiQ8TCY5. 5 interactions.
    STRINGi9606.ENSP00000306697.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TCY5.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei38 – 5821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the MRAP family.Curated

    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. 1 PublicationVSP_003862Add
    BLAST
    Alternative sequencei68 – 681M → MR in isoform 1. 1 PublicationVSP_021020
    Alternative sequencei69 – 10133RNSPK…HREPL → SFNTDESLLHSEVLPQTRAI SCDELQAPREEGAA in isoform 2. 1 PublicationVSP_003863Add
    BLAST
    Alternative sequencei102 – 17271Missing in isoform 2. 1 PublicationVSP_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]
    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.
    IntActi Q8TCY5. 5 interactions.
    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 ]
    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

    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: October 1, 2014
    This is version 107 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