Aliases for MC1R Gene
Aliases for MC1R Gene
External Ids for MC1R Gene
- HGNC: 6929
- Entrez Gene: 4157
- Ensembl: ENSG00000258839
- OMIM: 155555
- UniProtKB: Q01726
Previous GeneCards Identifiers for MC1R Gene
- GC16P081304
- GC16P090971
- GC16P089685
- GC16P089727
- GC16P088513
- GC16P089985
- GC16P089982
Summaries for MC1R Gene
-
This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]
GeneCards Summary for MC1R Gene
MC1R (Melanocortin 1 Receptor) is a Protein Coding gene. Diseases associated with MC1R include Melanoma, Cutaneous Malignant 5 and Skin/Hair/Eye Pigmentation, Variation In, 2. Among its related pathways are Melanocyte Development and Pigmentation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is ENSG00000198211.
UniProtKB/Swiss-Prot for MC1R Gene
-
Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
-
Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.
Additional gene information for MC1R Gene
- Monarch Initiative
- Search for MC1R at DataMed
- Search for MC1R at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MC1R Gene
Genomics for MC1R Gene
GeneHancer (GH) Regulatory Elements for MC1R Gene
Promoters and enhancers for MC1R Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MC1R on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MC1R gene promoter:
-
- NRSF form 1
- NRSF form 2
- ZIC2
- MyoD
- CREB
- HOXA9
- HOXA9B
- Meis-1
Regulatory Element Products
Genomic Locations for MC1R Gene
Genomic Locations for MC1R Gene
- chr16:89,912,119-89,920,977
- (GRCh38/hg38)
- Size:
- 8,859 bases
- Orientation:
- Plus strand
- chr16:89,978,527-89,987,385
- (GRCh37/hg19)
- Size:
- 8,859 bases
- Orientation:
- Plus strand
Genomic View for MC1R Gene
Genes around MC1R on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.3 by Entrez Gene
- 16q24.3 by HGNC
- 16q24.3 by Ensembl
MC1R Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MC1R Gene
Proteins for MC1R Gene
-
Protein details for MC1R Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q01726-MSHR_HUMAN
- Recommended name:
- Melanocyte-stimulating hormone receptor
- Protein Accession:
- Q01726
- Q66K38
- Q6UR93
- Q8WWX6
- Q8WWX7
- Q96I33
- Q96RU4
- Q9UBF7
- Q9UN58
- Q9UN59
- Q9UN60
- Q9UN61
- Q9UN62
Protein attributes for MC1R Gene
- Size:
- 317 amino acids
- Molecular mass:
- 34706 Da
- Quaternary structure:
-
- Interacts with MGRN1, but does not undergo MGRN1-mediated ubiquitination; this interaction competes with GNAS-binding and thus inhibits agonist-induced cAMP production.
Protein Expression for MC1R Gene
Post-translational modifications for MC1R Gene
Other Protein References for MC1R Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MC1R
- Novus Biologicals Antibodies for MC1R
- Invitrogen Antibodies for MC1R (AFLGC-MC1R)
- GeneTex MC1R Antibody for MC1R
-
Santa Cruz Biotechnology (SCBT) Antibodies for MC1R
Protein Products
-
OriGene Purified Proteins for MC1R
- Search Origene for MassSpec and Protein Over-expression Lysates for MC1R
- Origene Custom Protein Services for MC1R
- Search GeneTex for Proteins for MC1R
-
Abcam proteins for MC1R
Assay Products
- antibodies-online: Search results for 1 available MSHR Elisa Kits ranked by validation data
- Compare Top MSHR Elisa Kits
-
Recommended
No data available for DME Specific Peptides for MC1R Gene
Domains & Families for MC1R Gene
Gene Families for MC1R Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- G-protein coupled receptors
- Potential drug targets
- Predicted membrane proteins
Protein Domains for MC1R Gene
Suggested Antigen Peptide Sequences for MC1R Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q01726- Family:
-
- Belongs to the G-protein coupled receptor 1 family.
Function for MC1R Gene
Molecular function for MC1R Gene
- UniProtKB/Swiss-Prot Function:
- Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.
- GENATLAS Biochemistry:
- melanocortin receptor 1,murine extension (Ext) homolog,expressed in cells of melanocytic origin and adrenal cortex,G protein coupled receptor superfamily,regulator of eumelanin and phaeomelanin production
Phenotypes From GWAS Catalog for MC1R Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004930 | G-protein coupled receptor activity | IEA | -- |
| GO:0004977 | melanocortin receptor activity | TAS | 9571181 |
| GO:0004980 | melanocyte-stimulating hormone receptor activity | IPI | 19743876 |
| GO:0005515 | protein binding | IPI | 19329486 |
| GO:0008528 | G-protein coupled peptide receptor activity | TAS | 18292087 |
Phenotypes for MC1R Gene
- MGI mutant phenotypes for MC1R:
- inferred from 12 alleles
- GenomeRNAi human phenotypes for MC1R:
-
- G0/1 arrest
- Increased G1 DNA content
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased gamma-H2AX phosphorylation
- Decreased hepcidin::fluc mRNA expression
Animal Models for MC1R Gene
- MGI Knock Outs for MC1R:
-
- Mc1r Mc1r<tm1.1(KOMP)Vlcg>
Animal Model Products
-
Taconic Biosciences Mouse Models for MC1R
- Cyagen custom Knockout/knockin (KOKI) mouse models for MC1R
-
CRISPR Products
-
OriGene CRISPR knockouts for MC1R
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MC1R
- genomics-online: gRNA clones - Search results for available MSHR gene related products
- Applied Biological Materials CRISPR for MC1R
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MC1R
- GenScript: Design CRISPR guide RNA sequences for MC1R
miRNA for MC1R Gene
- miRTarBase miRNAs that target MC1R
-
- mmu-mir-141-3p (MIRT595776)
- mmu-mir-200a-3p (MIRT595777)
- mmu-mir-664-3p (MIRT595778)
- mmu-mir-3110-5p (MIRT598297)
- mmu-mir-5125 (MIRT598298)
- mmu-mir-5127 (MIRT598299)
- mmu-mir-150-5p (MIRT598300)
- mmu-mir-105 (MIRT598301)
- mmu-mir-302d-3p (MIRT598302)
- mmu-mir-302a-3p (MIRT598303)
- mmu-mir-302b-3p (MIRT598304)
- mmu-mir-294-3p (MIRT598305)
- mmu-mir-291a-3p (MIRT598306)
- mmu-mir-295-3p (MIRT598307)
- mmu-mir-1186a (MIRT598308)
- mmu-mir-1964-5p (MIRT598309)
- mmu-mir-1981-5p (MIRT598310)
- mmu-mir-1971 (MIRT598311)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MC1R
- Browse OriGene Inhibitory RNA Products For MC1R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MC1R
- genomics-online: shRNA clones - Search results for available MSHR gene related products
Clone Products
- Addgene plasmids for MC1R
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MC1R
- genomics-online: cdna clones - Search results for available MSHR gene related products
- orf clones - Search results for available MSHR gene related products
- Applied Biological Materials Clones for MC1R
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for MC1R (Melanocortin-1 R/MC1R)
Cell Line Products
-
Horizon Cell Lines for MC1R
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MC1R Gene
Localization for MC1R Gene
Subcellular locations from UniProtKB/Swiss-Prot for MC1R Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 2 |
| nucleus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9571181 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MC1R Gene
Pathways & Interactions for MC1R Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors |
.34
|
|
| 2 | Signaling by GPCR | ||
| 3 | Aldosterone synthesis and secretion |
.41
|
|
| 4 | Melanocyte Development and Pigmentation | ||
| 5 | G alpha (s) signalling events | ||
Pathways by source for MC1R Gene
2 BioSystems pathways for MC1R Gene
7 Reactome pathways for MC1R Gene
2 KEGG pathways for MC1R Gene
1 Qiagen pathway for MC1R Gene
Interacting Proteins for MC1R Gene
Selected Interacting proteins:
ENSP00000451605
Q01726-MSHR_HUMAN
for MC1R Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for MC1R
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007186 | G-protein coupled receptor signaling pathway | TAS | -- |
| GO:0007187 | G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | TAS | 9571181 |
| GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway | IDA | 19329486 |
| GO:0007275 | multicellular organism development | TAS | 7581459 |
No data available for SIGNOR curated interactions for MC1R Gene
Drugs & Compounds for MC1R Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Afamelanotide | Approved, Investigational | Pharma | Target | 0 | ||
| Desipramine | Approved, Investigational | Pharma | 39 | |||
| CZEN 002 | Investigational | Pharma | Target | 0 | ||
| Bremelanotide | Investigational | Pharma | agonist | 0 | ||
| Melanotan II | Pharma | High affinity melanocortin receptor agonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| NDP-MSH |
|
Full agonist, Agonist |
|
|||
| [Nle4,D-Phe7]-alpha-MSH |
|
75921-69-6 |
|
|
||
| Melanocyte-stimulating hormone release inhibiting factor |
|
2002-44-0 |
|
|
(5) Tocris Compounds for MC1R Gene
| Compound | Action | Cas Number |
|---|---|---|
| [Nle4,D-Phe7]-alpha-MSH | Melanocortin receptor agonist | 75921-69-6 |
| alpha-MSH | Endogenous melanocortin receptor agonist | 581-05-5 |
| Melanocyte-stimulating hormone release inhibiting factor | Inhibitor of alpha-MSH release; inhibits opioid effects in vivo | 2002-44-0 |
| Melanotan II | High affinity melanocortin receptor agonist | 121062-08-6 |
| THIQ | Potent and selective MC4 receptor agonist | 312637-48-2 |
Drug Products
Transcripts for MC1R Gene
mRNA/cDNA for MC1R Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (933) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000539976 2464 bps (uc010ciy.2)
- ENST00000555427 3637 bps (uc059yua.1)
- ENST00000639847 2567 bps
- ENST00000555147 3099 bps (uc002fpe.4)
Unigene Clusters for MC1R Gene
- Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MC1R
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MC1R
- genomics-online: gRNA clones - Search results for available MSHR gene related products
- Applied Biological Materials CRISPR for MC1R
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MC1R
- GenScript: Design CRISPR guide RNA sequences for MC1R
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MC1R
- Browse OriGene Inhibitory RNA Products For MC1R
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MC1R
- genomics-online: shRNA clones - Search results for available MSHR gene related products
Clone Products
- Addgene plasmids for MC1R
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MC1R
- genomics-online: cdna clones - Search results for available MSHR gene related products
- orf clones - Search results for available MSHR gene related products
- Applied Biological Materials Clones for MC1R
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for MC1R (Melanocortin-1 R/MC1R)
Expression for MC1R Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Brain (43.5), Lung (12.7), and Saliva (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MC1R Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MC1R Gene:
MC1RSOURCE GeneReport for Unigene cluster for MC1R Gene:
Hs.513829mRNA Expression by UniProt/SwissProt for MC1R Gene:
Q01726-MSHR_HUMAN
Tissue specificity:
Melanocytes and corticoadrenal tissue.
Evidence on tissue expression from TISSUES for MC1R Gene
- Skin(4.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MC1R Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- digestive
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- skull
General:
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for MC1R
-
OriGene qPCR primer pairs and template standards for MC1R
- genomics-online: primer clones - Search results for available MSHR gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for MC1R Gene
Orthologs for MC1R Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MC1R 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MC1R 33 |
|
||
| MC1-R 34 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | MC1R 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mc1r 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Mc1r 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MC1R 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MC1R 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MC1R 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mc1r 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mc1r 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany |
- Species where no ortholog for MC1R was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for MC1R Gene
- ENSEMBL:
- Gene Tree for MC1R (if available)
- TreeFam:
- Gene Tree for MC1R (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MC1R: view image
Paralogs for MC1R Gene
Paralogs for MC1R Gene
(5) SIMAP similar genes for MC1R Gene using alignment to 42 proteins:
- MSHR_HUMAN
- G3V4F0_HUMAN
- Q1JUL4_HUMAN
- Q1JUL6_HUMAN
- Q1JUL8_HUMAN
- Q1JUL9_HUMAN
- Q1JUM0_HUMAN
- Q1JUM2_HUMAN
- Q1JUM3_HUMAN
- Q1JUM4_HUMAN
- Q1JUM5_HUMAN
- Q6UR92_HUMAN
- Q6UR94_HUMAN
- Q6UR95_HUMAN
- Q6UR96_HUMAN
- Q6UR97_HUMAN
- Q6UR98_HUMAN
- Q6UR99_HUMAN
- Q6URA0_HUMAN
- Q86YW1_HUMAN
- V9Q5S2_HUMAN
- V9Q671_HUMAN
- V9Q783_HUMAN
- V9Q7F1_HUMAN
- V9Q8F1_HUMAN
- V9Q8N1_HUMAN
- V9Q977_HUMAN
- V9Q9P5_HUMAN
- V9Q9R8_HUMAN
- V9QAE0_HUMAN
- V9QAR2_HUMAN
- V9QAW3_HUMAN
- V9QB02_HUMAN
- V9QB58_HUMAN
- V9QBY6_HUMAN
- V9QC17_HUMAN
- V9QC66_HUMAN
- V9QCQ4_HUMAN
- V9QDF4_HUMAN
- V9QDN7_HUMAN
- V9QDP7_HUMAN
- V9QDQ6_HUMAN
Variants for MC1R Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for MC1R Gene
- MSHR_HUMAN-Q01726
- Genetic variants in MC1R define the skin/hair/eye pigmentation variation locus 2 (SHEP2) [MIM:266300]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator, with type I skin being the most lightly pigmented and type IV the most dark pigmented. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk.
- MSHR_HUMAN-Q01726
- MC1R variants associated with red hair and fair skin, determine female-specific increased analgesia from kappa-opioid receptor agonist [MIM:613098].
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894523 | risk-factor, Uv-induced skin damage, susceptibility to | 89,919,733(+) | C/A/T | coding_sequence_variant, missense_variant | |
| rs104894524 | risk-factor, Uv-induced skin damage, susceptibility to | 89,919,728(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1060504133 | likely-benign, Cutaneous malignant melanoma 5 | 89,919,654(+) | C/G/T | coding_sequence_variant, synonymous_variant | |
| rs1110400 | benign, likely-benign, conflicting-interpretations-of-pathogenicity, Cutaneous malignant melanoma 5, not specified, not provided, Malignant Melanoma Susceptibility | 89,919,722(+) | T/C | coding_sequence_variant, missense_variant | |
| rs11547464 | benign, likely-benign, Cutaneous malignant melanoma 5, Malignant Melanoma Susceptibility | 89,919,683(+) | G/A | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2762221 | CNV | gain+loss | 21179565 |
| nsv1066499 | CNV | loss | 25217958 |
| nsv1070371 | CNV | deletion | 25765185 |
| nsv428331 | CNV | gain+loss | 18775914 |
| nsv482951 | CNV | loss | 15286789 |
| nsv509640 | CNV | insertion | 20534489 |
| nsv519064 | CNV | loss | 19592680 |
| nsv525671 | CNV | loss | 19592680 |
| nsv573799 | CNV | gain | 21841781 |
| nsv573810 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.04;
80.21% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MC1R Gene
SNP Genotyping and Copy Number Assay Products
Disorders for MC1R Gene
(27) MalaCards diseases for MC1R Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| melanoma, cutaneous malignant 5 |
|
|
| skin/hair/eye pigmentation, variation in, 2 |
|
|
| increased analgesia from kappa-opioid receptor agonist, female-specific |
|
|
| albinism, oculocutaneous, type ii |
|
|
| ocular melanoma |
|
Search MC1R in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MSHR_HUMAN- Melanoma, cutaneous malignant 5 (CMM5) [MIM:613099]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:17434924, ECO:0000269 PubMed:19338054}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Additional Disease Information for MC1R
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MC1R Gene
Publications for MC1R Gene
- MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population. (PMID: 17434924) Fernandez L … Ribas G (Carcinogenesis 2007) 3 4 22 44 58
- Melanocortin 1 receptor (MC1R), pigmentary characteristics and sun exposure: findings from a case-control study of diffuse large B-cell and follicular lymphoma. (PMID: 20129839) Kane EV … Lightfoot T (Cancer epidemiology 2010) 3 22 44 58
- MC1R variants increase melanoma risk in families with CDKN2A mutations: a meta-analysis. (PMID: 20189796) Fargnoli MC … Raimondi S (European journal of cancer (Oxford, England : 1990) 2010) 3 22 44 58
- Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients. (PMID: 19338054) Pérez Oliva AB … Ribas G (Human mutation 2009) 3 4 22 58
- MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters. (PMID: 19077144) Höiom V … Hansson J (Pigment cell & melanoma research 2009) 3 22 44 58
Products for MC1R Gene
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- antibodies-online: Search results for 52 available MSHR Antibodies ranked by validation data
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- GeneTex MC1R Antibody for MC1R
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Sources for MC1R Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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