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Entry version 179 (16 Oct 2019)
Sequence version 1 (01 Jul 1993)
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Protein

Adrenocorticotropic hormone receptor

Gene

MC2R

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-5579031 Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q01718

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MC2R
Synonyms:ACTHR
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6930 MC2R

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607397 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q01718

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 23ExtracellularBy similarityAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei24 – 49Helical; Name=1By similarityAdd BLAST26
Topological domaini50 – 58CytoplasmicBy similarity9
Transmembranei59 – 79Helical; Name=2By similarityAdd BLAST21
Topological domaini80 – 104ExtracellularBy similarityAdd BLAST25
Transmembranei105 – 126Helical; Name=3By similarityAdd BLAST22
Topological domaini127 – 147CytoplasmicBy similarityAdd BLAST21
Transmembranei148 – 168Helical; Name=4By similarityAdd BLAST21
Topological domaini169 – 180ExtracellularBy similarityAdd BLAST12
Transmembranei181 – 199Helical; Name=5By similarityAdd BLAST19
Topological domaini200 – 217CytoplasmicBy similarityAdd BLAST18
Transmembranei218 – 244Helical; Name=6By similarityAdd BLAST27
Topological domaini245 – 256ExtracellularBy similarityAdd BLAST12
Transmembranei257 – 278Helical; Name=7By similarityAdd BLAST22
Topological domaini279 – 297CytoplasmicBy similarityAdd BLAST19

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glucocorticoid deficiency 1 (GCCD1)5 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00351074S → I in GCCD1; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894658EnsemblClinVar.1
Natural variantiVAR_010702103D → N in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs768093045Ensembl.1
Natural variantiVAR_015095107D → N in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs104894661EnsemblClinVar.1
Natural variantiVAR_003511120S → R in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs104894656EnsemblClinVar.1
Natural variantiVAR_003512128R → C in GCCD1. Corresponds to variant dbSNP:rs104894657EnsemblClinVar.1
Natural variantiVAR_010703137R → W in GCCD1; partial loss of ACTIVITY. 2 PublicationsCorresponds to variant dbSNP:rs104894660EnsemblClinVar.1
Natural variantiVAR_003513146R → H in GCCD1. Corresponds to variant dbSNP:rs758709668EnsemblClinVar.1
Natural variantiVAR_015096251C → F in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs104894662EnsemblClinVar.1
Natural variantiVAR_015295254Y → C in GCCD1; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28940892EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4158

MalaCards human disease database

More...
MalaCardsi
MC2R
MIMi202200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000185231

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
361 Familial glucocorticoid deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30674

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q01718

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1965

Drug and drug target database

More...
DrugBanki
DB11653 Bremelanotide
DB01285 Corticotropin
DB09334 Seractide acetate
DB01284 Tetracosactide

DrugCentral

More...
DrugCentrali
Q01718

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
283

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MC2R

Domain mapping of disease mutations (DMDM)

More...
DMDMi
399002

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000690541 – 297Adrenocorticotropic hormone receptorAdd BLAST297

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi12N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi17N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi293S-palmitoyl cysteineSequence analysis1

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q01718

PeptideAtlas

More...
PeptideAtlasi
Q01718

PRoteomics IDEntifications database

More...
PRIDEi
Q01718

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
57983

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q01718

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q01718

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Melanocytes and corticoadrenal tissue.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185231 Expressed in 31 organ(s), highest expression level in adrenal tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q01718 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q01718 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110328, 2 interactors

Database of interacting proteins

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DIPi
DIP-29949N

Protein interaction database and analysis system

More...
IntActi
Q01718, 2 interactors

Molecular INTeraction database

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MINTi
Q01718

STRING: functional protein association networks

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STRINGi
9606.ENSP00000333821

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q01718

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3656 Eukaryota
ENOG410XRW9 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00960000186617

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000246927

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q01718

KEGG Orthology (KO)

More...
KOi
K04200

Identification of Orthologs from Complete Genome Data

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OMAi
VLLMSHA

Database of Orthologous Groups

More...
OrthoDBi
1152704at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q01718

TreeFam database of animal gene trees

More...
TreeFami
TF332646

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001168 ACTH_rcpt
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001671 Melcrt_ACTH_rcpt

The PANTHER Classification System

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PANTHERi
PTHR22750:SF3 PTHR22750:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00001 7tm_1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00520 ACTROPHINR
PR00237 GPCRRHODOPSN
PR00534 MCRFAMILY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q01718-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKHIINSYEN INNTARNNSD CPRVVLPEEI FFTISIVGVL ENLIVLLAVF
60 70 80 90 100
KNKNLQAPMY FFICSLAISD MLGSLYKILE NILIILRNMG YLKPRGSFET
110 120 130 140 150
TADDIIDSLF VLSLLGSIFS LSVIAADRYI TIFHALRYHS IVTMRRTVVV
160 170 180 190 200
LTVIWTFCTG TGITMVIFSH HVPTVITFTS LFPLMLVFIL CLYVHMFLLA
210 220 230 240 250
RSHTRKISTL PRANMKGAIT LTILLGVFIF CWAPFVLHVL LMTFCPSNPY
260 270 280 290
CACYMSLFQV NGMLIMCNAV IDPFIYAFRS PELRDAFKKM IFCSRYW
Length:297
Mass (Da):33,927
Last modified:July 1, 1993 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i66EE31961ABB8773
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GMM0R4GMM0_HUMAN
Adrenocorticotropic hormone recepto...
MC2R
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00350927P → R. Corresponds to variant dbSNP:rs28926178EnsemblClinVar.1
Natural variantiVAR_00351074S → I in GCCD1; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894658EnsemblClinVar.1
Natural variantiVAR_010702103D → N in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs768093045Ensembl.1
Natural variantiVAR_015095107D → N in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs104894661EnsemblClinVar.1
Natural variantiVAR_003511120S → R in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs104894656EnsemblClinVar.1
Natural variantiVAR_003512128R → C in GCCD1. Corresponds to variant dbSNP:rs104894657EnsemblClinVar.1
Natural variantiVAR_064986137R → P Found in a glucocorticoid deficiency patient carrying also mutation I-74. 1 Publication1
Natural variantiVAR_010703137R → W in GCCD1; partial loss of ACTIVITY. 2 PublicationsCorresponds to variant dbSNP:rs104894660EnsemblClinVar.1
Natural variantiVAR_003513146R → H in GCCD1. Corresponds to variant dbSNP:rs758709668EnsemblClinVar.1
Natural variantiVAR_015096251C → F in GCCD1. 1 PublicationCorresponds to variant dbSNP:rs104894662EnsemblClinVar.1
Natural variantiVAR_015295254Y → C in GCCD1; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs28940892EnsemblClinVar.1
Natural variantiVAR_049369278F → C. Corresponds to variant dbSNP:rs28926182EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11869.1

Protein sequence database of the Protein Information Resource

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PIRi
C43265

NCBI Reference Sequences

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RefSeqi
NP_000520.1, NM_000529.2
NP_001278840.1, NM_001291911.1
XP_016881270.1, XM_017025781.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000327606; ENSP00000333821; ENSG00000185231

Database of genes from NCBI RefSeq genomes

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GeneIDi
4158

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4158

UCSC genome browser

More...
UCSCi
uc002ksp.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
XP_016881270.1, XM_017025781.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi110328, 2 interactors
DIPiDIP-29949N
IntActiQ01718, 2 interactors
MINTiQ01718
STRINGi9606.ENSP00000333821

Chemistry databases

BindingDBiQ01718
ChEMBLiCHEMBL1965
DrugBankiDB11653 Bremelanotide
DB01285 Corticotropin
DB09334 Seractide acetate
DB01284 Tetracosactide
DrugCentraliQ01718
GuidetoPHARMACOLOGYi283

Protein family/group databases

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

Information system for G protein-coupled receptors (GPCRs)

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GPCRDBi
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PTM databases

iPTMnetiQ01718
PhosphoSitePlusiQ01718

Polymorphism and mutation databases

BioMutaiMC2R
DMDMi399002

Proteomic databases

PaxDbiQ01718
PeptideAtlasiQ01718
PRIDEiQ01718
ProteomicsDBi57983

Genome annotation databases

EnsembliENST00000327606; ENSP00000333821; ENSG00000185231
GeneIDi4158
KEGGihsa:4158
UCSCiuc002ksp.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4158
DisGeNETi4158

GeneCards: human genes, protein and diseases

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GeneCardsi
MC2R
HGNCiHGNC:6930 MC2R
MalaCardsiMC2R
MIMi202200 phenotype
607397 gene
neXtProtiNX_Q01718
OpenTargetsiENSG00000185231
Orphaneti361 Familial glucocorticoid deficiency
PharmGKBiPA30674

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
GeneTreeiENSGT00960000186617
HOGENOMiHOG000246927
InParanoidiQ01718
KOiK04200
OMAiVLLMSHA
OrthoDBi1152704at2759
PhylomeDBiQ01718
TreeFamiTF332646

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-5579031 Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
SIGNORiQ01718

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACTH_receptor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4158
PharosiQ01718

Protein Ontology

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PROi
PR:Q01718

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000185231 Expressed in 31 organ(s), highest expression level in adrenal tissue
ExpressionAtlasiQ01718 baseline and differential
GenevisibleiQ01718 HS

Family and domain databases

InterProiView protein in InterPro
IPR001168 ACTH_rcpt
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR001671 Melcrt_ACTH_rcpt
PANTHERiPTHR22750:SF3 PTHR22750:SF3, 1 hit
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00520 ACTROPHINR
PR00237 GPCRRHODOPSN
PR00534 MCRFAMILY
SMARTiView protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACTHR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01718
Secondary accession number(s): A8K016, Q3MI45, Q504X6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: October 16, 2019
This is version 179 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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