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Aliases & Descriptions for MC1R
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| MC1-R 3 | | MGC14337 2 | | MSH-R 1, 2, 3 | | MSHR 3 | | SHEP2 2, 5 |
| | | Descriptions |
|---|
| Melanocortin receptor 1 3 | | Melanotropin receptor 2, 3 | | melanocortin 1 receptor 2 | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2 |
|
| | Search outside databases for aliases for MC1R genePrevious GC identifers: GC16P081304 GC16P090971 GC16P089685 GC16P089727 |
Summaries for MC1R(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for MC1R: 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] UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726Function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclaseGene Wiki entry for MC1R (Melanocortin_1_receptor) |
Genomic Location for MC1R
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the MC1R gene 
Entrez Gene cytogenetic band: 16q24.3 Ensembl cytogenetic band: 16q24.3 HGNC cytogenetic band: 16q24.3MC1R Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P088513:
(about GC identifiers)
Start:
|
88,512,527 bp from pter |
End:
|
88,530,006 bp from pter |
Size:
|
17,480 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000016.8 NT_010542.15
| Proteins for MC1R
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726 (See
protein sequence)Recommended Name: Melanocyte-stimulating hormone receptor Size: 317 amino acids; 34706 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q66K38 Q8WWX6 Q8WWX7 Q96I33 Q96RU4 Q9UBF7 Q9UN58 Q9UN59 Q9UN60 Q9UN61 Q9UN62Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_002377.4
ENSEMBL proteins: ENSP00000302777 ENSP00000320295
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for MC1R: Assays for MC1R: | Protein
Domains/ Families for MC1R(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q01726
ProtoNet protein and cluster: Q01726 2 Blocks protein families: IPB000761 Melanocyte stimulating hormone receptor signature IPB001671 Melanocortin receptor family signature
UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726Similarity: Belongs to the G-protein coupled receptor 1 family | Gene Function for MC1R
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002386
Applied Biosystems Silencer® siRNAs for MC1R
Sigma-Aldrich siRNA and siRNA Panels for MC1R  Sigma-Aldrich shRNA Panels and shRNA for MC1R  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002386                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002386                                  untagged cDNA clone in CMV expression vector: NM_002386 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002386
UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726Function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclaseGenatlas biochemistry entry for MC1R: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 production10 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Mc1r):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004872 | receptor activity |
IEA | -- | | GO:0004930 | G-protein coupled receptor activity |
IEA | -- | | GO:0004980 | melanocyte stimulating hormone receptor activity |
IEA | -- | About this table | Pathways & Interactions for MC1R
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for MC1R (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for MC1R 
5/58 Interacting proteins for MC1R (ENSP000003027773) via UniProtKB, MINT, and/or STRING (see all 58
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for MC1R(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for MC1R available from Tocris Bioscience About this table
10/14 Novoseek chemical compound relationships for MC1R gene (see all 14
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| eumelanin |
92.56 |
56 |
16524431 (2), 12006619 (2), 16827749 (2), 12503631 (2) (see all 29) |
| phaeomelanin |
89.09 |
15 |
10403794 (1), 7581459 (1), 10101176 (1), 11837451 (1) (see all 8) |
| alpha msh |
85.52 |
28 |
16177130 (4), 12439754 (3), 12473109 (3), 11689486 (2) (see all 6) |
| acth |
68.51 |
44 |
11041375 (3), 10029451 (2), 15498881 (2), 15748644 (2) (see all 21) |
| dopachrome |
66.62 |
3 |
9862732 (1), 11493672 (1), 12519127 (1) |
| shu 9119 |
59.65 |
1 |
17127674 (1) |
| cyclic amp |
21.15 |
11 |
15102092 (2), 16274845 (2), 9571181 (1), 12503631 (1) |
| tripeptide s |
19.91 |
1 |
15102092 (1) |
| calcium |
5.07 |
4 |
9124542 (1), 16914090 (1) |
| dithiothreitol |
3.96 |
1 |
11237737 (1) |
About this table
|
Transcripts for MC1R(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002386
Sigma-Aldrich siRNA and siRNA Panels for MC1R  Sigma-Aldrich shRNA Panels and shRNA for MC1R  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002386 REFSEQ mRNAs for MC1R gene: NM_002386.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002386               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002386                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002386                                  untagged cDNA clone in CMV expression vector: NM_002386  Additional cDNA sequence: AK024232.1 AK054666.1 AK225902.1 AK311630.1 BC007856.2 BC080622.1 X67594.1 9 DOTS entries: DT.406626 DT.120721036 DT.121643636 DT.100735529 DT.91667661 DT.97778643 DT.97795732 DT.120720907 DT.95166574 24/933 AceView cDNA sequences (see all 933
):CR596505 BX442565 BX464037 AU119449 BQ924056 CR625315 BC001678 BX460133 BE784462 BQ639410 CR590075 CR612113 CR605315 AL537104 CR624149 CR610945 BF568062 BC020171 BM557821 BQ925781 CR594431 CR601082 BQ676579 BU527312
highest scoring ESTs for MC1R:AI123000 X67594 AA431397 AA432389 AA778295 AI379405 AI911373 AK024232 AU150244 AW270712 Unigene Cluster for MC1R: Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Hs.513829 [show with all ESTs]Unigene Representative Sequence: AK311630
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for MC1R (see all 11
)
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | · | 11e | |
| SP1: | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | - |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | - |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | - |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | - |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | - |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for MC1R
2 Ensembl transcripts including schematic representations: ENST00000304984
ENST00000315491
|
Expression for MC1R
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| MC1R expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for MC1R
1 / 2 / 3 4 probe-sets matching MC1R gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GGGCCAGGAA
SOURCE GeneReport for Unigene cluster: Hs.513829
Expression variation in blood from EXPOLDB for MC1R UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726Tissue specificity: Melanocytes and corticoadrenal tissue |
Orthologs for MC1R
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for MC1R gene from 5/6 species (see all 6
)
About this table Species with no ortholog for MC1R
ENSEMBL Gene Tree for MC1R | Paralogs for MC1R(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for MC1R gene
- ENSG000001732132 ENSG000001592472 TUBB62 TUBB12 TUBB4Q2 ENSG000001738762
|
SNPs/Variants for MC1R(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: MSHR_HUMAN, Q01726Polymorphism: Variations in MC1R are linked to the degree of skin pigmentation (Types I-IV). Type I skin the most lightly pigmented and type IV the most dark pigmented. Partial loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer riskPolymorphism: Genetic variations in MC1R are associated with variation in skin/hair/eye pigmentation type 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. 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
HapMap Linkage Disequilibrium images for MC1R (up to first 250kb)
|
Disorders & Mutations for MC1R
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 155555 10/30 Novoseek disease relationships for MC1R gene (see all 30
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| melanoma |
80.91 |
323 |
12177778 (7), 15998953 (7), 12439754 (7), 16172233 (7) (see all 99) |
| skin cancer |
79.37 |
58 |
16721784 (4), 12753400 (3), 17130136 (3), 12006619 (2) (see all 33) |
| freckles |
70.28 |
14 |
11487574 (5), 18079748 (1), 15250941 (1), 17371441 (1) |
| melanoma cloudman s91 |
64.99 |
2 |
10614575 (1) |
| nevi |
61.01 |
7 |
10536983 (1), 16214921 (1), 15998953 (1), 14709592 (1) (see all 7) |
| nonmelanoma skin cancer |
59.95 |
7 |
11254446 (3), 16982779 (1), 11830546 (1), 11708951 (1) |
| albinism oculocutaneous |
57.84 |
5 |
11499678 (1), 18392143 (1), 17570052 (1) |
| dysplastic nevi |
55.12 |
3 |
16214921 (2), 16172233 (1) |
| carcinoma basal cell |
53.55 |
18 |
11179997 (3), 10340440 (2), 16645598 (2), 18067130 (2) (see all 8) |
| lentigines |
45.52 |
5 |
11487574 (3), 18079748 (1), 17371441 (1) |
About this table
Human Gene Mutation Database: MC1R Genetic Association Database: MC1R Human Genome Epidemiology Navigator: MC1R (66 documents)
|
Medical News for MC1R(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MC1R (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/364 PubMed articles for MC1R gene (see all 364
):- High polymorphism at the human melanocortin 1 receptor locus. (PubMed id 10101176)1, 3, 4 Rana B.K....Li W.H. (1999)
- Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians. (PubMed id 16463023)1, 3, 4 Nakayama K.... Ishida T. (2006)
- The melanocortin-1-receptor gene is the major freckle gene. (PubMed id 11487574)1, 3, 6 Bastiaens M....Bouwes Bavinck J.N. (2001)
- Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. (PubMed id 11179997)1, 3, 6 Box N.F....Sturm R.A. (2001)
- The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. (PubMed id 8894704)1, 3, 4 Valverde P.... Rees J.L. (1996)
- Novel MC1R variants in Ligurian melanoma patients and controls. (PubMed id 15221796)1, 3, 6 Pastorino L....Scarra G.B. (2004)
- MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. (PubMed id 11500805)1, 3, 6 Box N.F....Hayward N.K. (2001)
- Melanocortin 1 receptor variants in an Irish population. (PubMed id 9665397)1, 3, 4 Smith R.... Rees J.L. (1998)
- Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair. (PubMed id 9302268)1, 3, 4 Box N.F.... Sturm R.A. (1997)
- Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients. (PubMed id 12859622)1, 3, 6 Na G.Y....Kim J.C. (2003)
|
Search for MC1R
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MC1R
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MC1R
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MC1R(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for MC1R(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for MC1R:

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| | | | Tocris compounds for MC1R |
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Incremental update: 13 Oct 2009
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