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Q01718

- ACTHR_HUMAN

UniProt

Q01718 - ACTHR_HUMAN

Protein

Adrenocorticotropic hormone receptor

Gene

MC2R

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
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    Functioni

    Receptor for corticotropin (ACTH). This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase (cAMP).2 Publications

    GO - Molecular functioni

    1. corticotropin receptor activity Source: ProtInc
    2. melanocortin receptor activity Source: ProtInc
    3. protein binding Source: BHF-UCL

    GO - Biological processi

    1. G-protein coupled receptor signaling pathway Source: ProtInc
    2. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
    3. neuropeptide signaling pathway Source: GOC
    4. placenta development Source: Ensembl
    5. positive regulation of cAMP biosynthetic process Source: BHF-UCL

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_14819. Peptide ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.

    Protein family/group databases

    TCDBi9.A.14.2.4. the g-protein-coupled receptor (gpcr) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Adrenocorticotropic hormone receptor
    Short name:
    ACTH receptor
    Short name:
    ACTH-R
    Alternative name(s):
    Adrenocorticotropin receptor
    Melanocortin receptor 2
    Short name:
    MC2-R
    Gene namesi
    Name:MC2R
    Synonyms:ACTHR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:6930. MC2R.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Glucocorticoid deficiency 1 (GCCD1) [MIM:202200]: 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti74 – 741S → I in GCCD1; complete loss of activity. 2 Publications
    VAR_003510
    Natural varianti103 – 1031D → N in GCCD1. 1 Publication
    VAR_010702
    Natural varianti107 – 1071D → N in GCCD1. 1 Publication
    VAR_015095
    Natural varianti120 – 1201S → R in GCCD1. 1 Publication
    VAR_003511
    Natural varianti128 – 1281R → C in GCCD1.
    VAR_003512
    Natural varianti137 – 1371R → W in GCCD1; partial loss of ACTIVITY. 2 Publications
    VAR_010703
    Natural varianti146 – 1461R → H in GCCD1.
    VAR_003513
    Natural varianti251 – 2511C → F in GCCD1. 1 Publication
    VAR_015096
    Natural varianti254 – 2541Y → C in GCCD1; complete loss of activity. 1 Publication
    Corresponds to variant rs28940892 [ dbSNP | Ensembl ].
    VAR_015295

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi202200. phenotype.
    Orphaneti361. Familial glucocorticoid deficiency.
    PharmGKBiPA30674.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 297297Adrenocorticotropic hormone receptorPRO_0000069054Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi12 – 121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi17 – 171N-linked (GlcNAc...)Sequence Analysis
    Lipidationi293 – 2931S-palmitoyl cysteineSequence Analysis

    Keywords - PTMi

    Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PRIDEiQ01718.

    PTM databases

    PhosphoSiteiQ01718.

    Expressioni

    Tissue specificityi

    Melanocytes and corticoadrenal tissue.

    Gene expression databases

    BgeeiQ01718.
    CleanExiHS_MC2R.
    GenevestigatoriQ01718.

    Interactioni

    Subunit structurei

    Interacts with MRAP; increasing ligand-sensitivity and generation of cAMP. Interacts with MRAP2; competing with MRAP for binding to MC2R and impairing the binding of corticotropin (ACTH).3 Publications

    Protein-protein interaction databases

    BioGridi110328. 3 interactions.
    DIPiDIP-29949N.
    IntActiQ01718. 1 interaction.
    STRINGi9606.ENSP00000333821.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01718.
    SMRiQ01718. Positions 32-291.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2323ExtracellularBy similarityAdd
    BLAST
    Topological domaini50 – 589CytoplasmicBy similarity
    Topological domaini80 – 10425ExtracellularBy similarityAdd
    BLAST
    Topological domaini127 – 14721CytoplasmicBy similarityAdd
    BLAST
    Topological domaini169 – 18012ExtracellularBy similarityAdd
    BLAST
    Topological domaini200 – 21718CytoplasmicBy similarityAdd
    BLAST
    Topological domaini245 – 25612ExtracellularBy similarityAdd
    BLAST
    Topological domaini279 – 29719CytoplasmicBy similarityAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei24 – 4926Helical; Name=1By similarityAdd
    BLAST
    Transmembranei59 – 7921Helical; Name=2By similarityAdd
    BLAST
    Transmembranei105 – 12622Helical; Name=3By similarityAdd
    BLAST
    Transmembranei148 – 16821Helical; Name=4By similarityAdd
    BLAST
    Transmembranei181 – 19919Helical; Name=5By similarityAdd
    BLAST
    Transmembranei218 – 24427Helical; Name=6By similarityAdd
    BLAST
    Transmembranei257 – 27822Helical; Name=7By similarityAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG331926.
    HOGENOMiHOG000246927.
    HOVERGENiHBG108148.
    InParanoidiQ01718.
    KOiK04200.
    OMAiKPRGNFE.
    OrthoDBiEOG7327PD.
    PhylomeDBiQ01718.
    TreeFamiTF332646.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR001168. ACTH_rcpt.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001671. Melcrt_ACTH_rcpt.
    [Graphical view]
    PANTHERiPTHR22750:SF3. PTHR22750:SF3. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00520. ACTROPHINR.
    PR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q01718-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKHIINSYEN INNTARNNSD CPRVVLPEEI FFTISIVGVL ENLIVLLAVF    50
    KNKNLQAPMY FFICSLAISD MLGSLYKILE NILIILRNMG YLKPRGSFET 100
    TADDIIDSLF VLSLLGSIFS LSVIAADRYI TIFHALRYHS IVTMRRTVVV 150
    LTVIWTFCTG TGITMVIFSH HVPTVITFTS LFPLMLVFIL CLYVHMFLLA 200
    RSHTRKISTL PRANMKGAIT LTILLGVFIF CWAPFVLHVL LMTFCPSNPY 250
    CACYMSLFQV NGMLIMCNAV IDPFIYAFRS PELRDAFKKM IFCSRYW 297
    Length:297
    Mass (Da):33,927
    Last modified:July 1, 1993 - v1
    Checksum:i66EE31961ABB8773
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271P → R.
    Corresponds to variant rs28926178 [ dbSNP | Ensembl ].
    VAR_003509
    Natural varianti74 – 741S → I in GCCD1; complete loss of activity. 2 Publications
    VAR_003510
    Natural varianti103 – 1031D → N in GCCD1. 1 Publication
    VAR_010702
    Natural varianti107 – 1071D → N in GCCD1. 1 Publication
    VAR_015095
    Natural varianti120 – 1201S → R in GCCD1. 1 Publication
    VAR_003511
    Natural varianti128 – 1281R → C in GCCD1.
    VAR_003512
    Natural varianti137 – 1371R → P Found in a glucocorticoid deficiency patient carrying also mutation I-74. 1 Publication
    VAR_064986
    Natural varianti137 – 1371R → W in GCCD1; partial loss of ACTIVITY. 2 Publications
    VAR_010703
    Natural varianti146 – 1461R → H in GCCD1.
    VAR_003513
    Natural varianti251 – 2511C → F in GCCD1. 1 Publication
    VAR_015096
    Natural varianti254 – 2541Y → C in GCCD1; complete loss of activity. 1 Publication
    Corresponds to variant rs28940892 [ dbSNP | Ensembl ].
    VAR_015295
    Natural varianti278 – 2781F → C.
    Corresponds to variant rs28926182 [ dbSNP | Ensembl ].
    VAR_049369

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X65633 Genomic DNA. Translation: CAA46587.1.
    AB065915 Genomic DNA. Translation: BAC06130.1.
    AK289381 mRNA. Translation: BAF82070.1.
    AK315319 mRNA. Translation: BAG37722.1.
    CH471113 Genomic DNA. Translation: EAX01503.1.
    BC069074 mRNA. Translation: AAH69074.1.
    BC094710 mRNA. Translation: AAH94710.1.
    BC104169 mRNA. Translation: AAI04170.1.
    BC104170 mRNA. Translation: AAI04171.1.
    AY225229 Genomic DNA. Translation: AAO67714.1.
    CCDSiCCDS11869.1.
    PIRiC43265.
    RefSeqiNP_000520.1. NM_000529.2.
    NP_001278840.1. NM_001291911.1.
    UniGeneiHs.248144.

    Genome annotation databases

    EnsembliENST00000327606; ENSP00000333821; ENSG00000185231.
    GeneIDi4158.
    KEGGihsa:4158.
    UCSCiuc002ksp.1. human.

    Polymorphism databases

    DMDMi399002.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X65633 Genomic DNA. Translation: CAA46587.1 .
    AB065915 Genomic DNA. Translation: BAC06130.1 .
    AK289381 mRNA. Translation: BAF82070.1 .
    AK315319 mRNA. Translation: BAG37722.1 .
    CH471113 Genomic DNA. Translation: EAX01503.1 .
    BC069074 mRNA. Translation: AAH69074.1 .
    BC094710 mRNA. Translation: AAH94710.1 .
    BC104169 mRNA. Translation: AAI04170.1 .
    BC104170 mRNA. Translation: AAI04171.1 .
    AY225229 Genomic DNA. Translation: AAO67714.1 .
    CCDSi CCDS11869.1.
    PIRi C43265.
    RefSeqi NP_000520.1. NM_000529.2.
    NP_001278840.1. NM_001291911.1.
    UniGenei Hs.248144.

    3D structure databases

    ProteinModelPortali Q01718.
    SMRi Q01718. Positions 32-291.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110328. 3 interactions.
    DIPi DIP-29949N.
    IntActi Q01718. 1 interaction.
    STRINGi 9606.ENSP00000333821.

    Chemistry

    BindingDBi Q01718.
    ChEMBLi CHEMBL1965.
    DrugBanki DB01285. Corticotropin.
    DB01284. Cosyntropin.
    GuidetoPHARMACOLOGYi 283.

    Protein family/group databases

    TCDBi 9.A.14.2.4. the g-protein-coupled receptor (gpcr) family.
    GPCRDBi Search...

    PTM databases

    PhosphoSitei Q01718.

    Polymorphism databases

    DMDMi 399002.

    Proteomic databases

    PRIDEi Q01718.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327606 ; ENSP00000333821 ; ENSG00000185231 .
    GeneIDi 4158.
    KEGGi hsa:4158.
    UCSCi uc002ksp.1. human.

    Organism-specific databases

    CTDi 4158.
    GeneCardsi GC18M013874.
    HGNCi HGNC:6930. MC2R.
    MIMi 202200. phenotype.
    607397. gene.
    neXtProti NX_Q01718.
    Orphaneti 361. Familial glucocorticoid deficiency.
    PharmGKBi PA30674.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG331926.
    HOGENOMi HOG000246927.
    HOVERGENi HBG108148.
    InParanoidi Q01718.
    KOi K04200.
    OMAi KPRGNFE.
    OrthoDBi EOG7327PD.
    PhylomeDBi Q01718.
    TreeFami TF332646.

    Enzyme and pathway databases

    Reactomei REACT_14819. Peptide ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.

    Miscellaneous databases

    GeneWikii ACTH_receptor.
    GenomeRNAii 4158.
    NextBioi 16382.
    PROi Q01718.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q01718.
    CleanExi HS_MC2R.
    Genevestigatori Q01718.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR001168. ACTH_rcpt.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR001671. Melcrt_ACTH_rcpt.
    [Graphical view ]
    PANTHERi PTHR22750:SF3. PTHR22750:SF3. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00520. ACTROPHINR.
    PR00237. GPCRRHODOPSN.
    PR00534. MCRFAMILY.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The cloning of a family of genes that encode the melanocortin receptors."
      Mountjoy K.G., Robbins L.S., Mortrud M., Cone R.D.
      Science 257:1248-1251(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Skin.
    2. "Genome-wide discovery and analysis of human seven transmembrane helix receptor genes."
      Suwa M., Sato T., Okouchi I., Arita M., Futami K., Matsumoto S., Tsutsumi S., Aburatani H., Asai K., Akiyama Y.
      Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Kopatz S.A., Aronstam R.S., Sharma S.V.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Adrenal gland.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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].
    7. "Molecular cloning of a novel melanocortin receptor."
      Gantz I., Konda Y., Tashiro T., Shimoto Y., Miwa H., Munzert G., Watson S.J., Delvalle J., Yamada T.
      J. Biol. Chem. 268:8246-8250(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-293.
    8. "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: INTERACTION WITH MRAP.
    9. Cited for: FUNCTION, INTERACTION WITH MRAP AND MRAP2.
    10. "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, INTERACTION WITH MRAP AND MRAP2.
    11. "Molecular insights into inherited ACTH resistance syndromes."
      Clark A.J.L., Weber A.
      Trends Endocrinol. Metab. 5:209-214(1994)
      Cited for: REVIEW ON GCCD1 VARIANTS.
    12. "Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor."
      Clark A.J.L., McLoughlin L., Grossman A.
      Lancet 341:461-462(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GCCD1 ILE-74.
    13. "Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene."
      Tsigos C., Arai K., Hung W., Chrousos G.P.
      J. Clin. Invest. 92:2458-2461(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GCCD1 ARG-120.
    14. "Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency."
      Naville D., Barjhoux L., Jaillard C., Faury D., Despert F., Esteva B., Durand P., Saez J.M., Begeot M.
      J. Clin. Endocrinol. Metab. 81:1442-1448(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GCCD1 ASN-107 AND PHE-251.
    15. "Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH."
      Ishii T., Ogata T., Sasaki G., Sato S., Kinoshita E.I., Matsuo N.
      Clin. Endocrinol. (Oxf.) 53:389-392(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GCCD1 ASN-103 AND TRP-137.
    16. "Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay."
      Fluck C.E., Martens J.W.M., Conte F.A., Miller W.L.
      J. Clin. Endocrinol. Metab. 87:4318-4323(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GCCD1 ILE-74; TRP-137 AND CYS-254.
    17. "Novel human pathological mutations. Gene symbol: MC2R. Disease: Glucocorticoid deficiency."
      Mueller O.T., Coovadia A.
      Hum. Genet. 127:112-112(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PRO-137.

    Entry informationi

    Entry nameiACTHR_HUMAN
    AccessioniPrimary (citable) accession number: Q01718
    Secondary accession number(s): A8K016, Q3MI45, Q504X6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    This is version 139 of the entry and version 1 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. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 18
      Human chromosome 18: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3