Details for: MC1R

Gene ID: 4157

Symbol: MC1R

Ensembl ID: ENSG00000258839

Description: melanocortin 1 receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 28.7376
    Cell Significance Index: -4.4700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 17.7809
    Cell Significance Index: -4.5100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.6619
    Cell Significance Index: -4.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5171
    Cell Significance Index: 26.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2954
    Cell Significance Index: 6.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2872
    Cell Significance Index: 259.3200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.2717
    Cell Significance Index: 78.1900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.2374
    Cell Significance Index: 1.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2261
    Cell Significance Index: 6.5200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.2197
    Cell Significance Index: 3.6200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2165
    Cell Significance Index: 5.8000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1983
    Cell Significance Index: 2.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1659
    Cell Significance Index: 16.4100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1658
    Cell Significance Index: 2.6600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1437
    Cell Significance Index: 5.0500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1434
    Cell Significance Index: 6.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1413
    Cell Significance Index: 16.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1128
    Cell Significance Index: 4.2700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1119
    Cell Significance Index: 18.2000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1093
    Cell Significance Index: 11.8900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1057
    Cell Significance Index: 20.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0972
    Cell Significance Index: 19.5000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.0966
    Cell Significance Index: 0.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0963
    Cell Significance Index: 4.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0932
    Cell Significance Index: 33.4200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0824
    Cell Significance Index: 1.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0658
    Cell Significance Index: 4.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0626
    Cell Significance Index: 12.4200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0528
    Cell Significance Index: 1.3200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0527
    Cell Significance Index: 2.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0443
    Cell Significance Index: 6.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0424
    Cell Significance Index: 1.0900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0379
    Cell Significance Index: 6.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0215
    Cell Significance Index: 1.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0211
    Cell Significance Index: 2.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0211
    Cell Significance Index: 0.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0198
    Cell Significance Index: 1.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0153
    Cell Significance Index: 0.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0146
    Cell Significance Index: 7.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0120
    Cell Significance Index: 0.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0108
    Cell Significance Index: 4.7700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0048
    Cell Significance Index: 0.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0033
    Cell Significance Index: 0.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0001
    Cell Significance Index: -0.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0013
    Cell Significance Index: -0.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0015
    Cell Significance Index: -0.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0023
    Cell Significance Index: -4.2500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0030
    Cell Significance Index: -0.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0036
    Cell Significance Index: -2.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0042
    Cell Significance Index: -3.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0044
    Cell Significance Index: -3.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0059
    Cell Significance Index: -3.3500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0062
    Cell Significance Index: -3.9500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0073
    Cell Significance Index: -4.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0091
    Cell Significance Index: -4.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0096
    Cell Significance Index: -1.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0097
    Cell Significance Index: -0.9900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0156
    Cell Significance Index: -0.3600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0161
    Cell Significance Index: -0.2200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0176
    Cell Significance Index: -0.2800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0182
    Cell Significance Index: -0.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0198
    Cell Significance Index: -4.1800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0214
    Cell Significance Index: -0.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0228
    Cell Significance Index: -2.6900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0239
    Cell Significance Index: -3.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0262
    Cell Significance Index: -3.8100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0266
    Cell Significance Index: -0.2800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0268
    Cell Significance Index: -1.2600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0290
    Cell Significance Index: -1.5300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0311
    Cell Significance Index: -2.0900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0401
    Cell Significance Index: -1.1500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0428
    Cell Significance Index: -4.4600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0458
    Cell Significance Index: -3.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0463
    Cell Significance Index: -3.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0470
    Cell Significance Index: -1.0000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0495
    Cell Significance Index: -3.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0512
    Cell Significance Index: -3.3000
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0541
    Cell Significance Index: -0.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0564
    Cell Significance Index: -1.8100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0566
    Cell Significance Index: -1.5400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0567
    Cell Significance Index: -1.3600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0577
    Cell Significance Index: -0.8700
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0642
    Cell Significance Index: -0.8400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0661
    Cell Significance Index: -0.9500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0703
    Cell Significance Index: -2.8800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0740
    Cell Significance Index: -1.5700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0795
    Cell Significance Index: -1.3300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0804
    Cell Significance Index: -2.5600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0849
    Cell Significance Index: -2.7800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0850
    Cell Significance Index: -1.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0882
    Cell Significance Index: -3.0700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0898
    Cell Significance Index: -1.2900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0905
    Cell Significance Index: -3.1700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0918
    Cell Significance Index: -3.3700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0933
    Cell Significance Index: -1.8200
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.0960
    Cell Significance Index: -0.9900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0960
    Cell Significance Index: -2.7400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1017
    Cell Significance Index: -2.0100
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.1089
    Cell Significance Index: -1.0500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1091
    Cell Significance Index: -2.1900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The MC1R gene is located on chromosome 16 and encodes a 321-amino acid protein that belongs to the class A/1 rhodopsin-like receptor family. The receptor is expressed in various cell types, including melanocytes, neurons, and epithelial cells. MC1R is a ligand-activated G protein-coupled receptor that binds to melanocortins, such as alpha-melanocyte-stimulating hormone (α-MSH), and activates downstream signaling pathways. **Pathways and Functions:** MC1R is involved in several key signaling pathways, including: 1. **Melanin biosynthetic process**: MC1R regulates the production of eumelanin, the primary pigment responsible for skin and hair color. 2. **G protein-coupled receptor signaling pathway**: MC1R activates Gαs and Gβγ subunits, leading to the activation of adenylate cyclase and the production of cyclic AMP (cAMP). 3. **Hormone binding**: MC1R binds to melanocortins, such as α-MSH, and activates downstream signaling pathways. 4. **Intracellular signal transduction**: MC1R regulates various cellular processes, including cell proliferation, differentiation, and survival. MC1R also plays a role in regulating: 1. **Feeding behavior**: MC1R is involved in the regulation of feeding behavior and energy homeostasis. 2. **Pain perception**: MC1R is expressed in nociceptors and regulates pain perception. 3. **Metabolic process**: MC1R regulates glucose and lipid metabolism. 4. **Immune regulation**: MC1R modulates the production of pro-inflammatory cytokines, such as tumor necrosis factor-α (TNF-α). **Clinical Significance:** Abnormalities in the MC1R gene have been associated with several diseases, including: 1. **Vitiligo**: A autoimmune disease characterized by the destruction of melanocytes, leading to skin depigmentation. 2. **Albinism**: A group of genetic disorders that result in the absence or reduction of melanin production. 3. **Skin cancer**: MC1R mutations have been associated with an increased risk of skin cancer, particularly melanoma. 4. **Neurological disorders**: MC1R mutations have been linked to neurological disorders, such as Parkinson's disease and multiple sclerosis. In conclusion, the MC1R gene plays a crucial role in various physiological processes, including pigmentation, metabolism, and immune regulation. Abnormalities in the MC1R gene have been associated with several diseases, highlighting the importance of this receptor in human health and disease. Further research is needed to fully understand the complex functions of MC1R and its role in human disease.

Genular Protein ID: 3676617402

Symbol: MSHR_HUMAN

Name: Melanocyte-stimulating hormone receptor

UniProtKB Accession Codes:

Q01726 Q66K38 Q6UR93 Q8WWX6 Q8WWX7 Q96I33 Q96RU4 Q9UBF7 Q9UN58 Q9UN59 Q9UN60 Q9UN61 Q9UN62

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EMBL 19 EMDB 4 Ensembl 2 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRINTS 3 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1325670

Title: The cloning of a family of genes that encode the melanocortin receptors.

PubMed ID: 1325670

DOI: 10.1126/science.1325670

PubMed ID: 8463333

Title: Molecular cloning of a novel melanocortin receptor.

PubMed ID: 8463333

DOI: 10.1016/s0021-9258(18)53088-x

PubMed ID: 1516719

Title: Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA.

PubMed ID: 1516719

DOI: 10.1016/0014-5793(92)80820-7

PubMed ID: 8706868

Title:

PubMed ID: 8706868

DOI: 10.1016/0014-5793(96)81375-5

PubMed ID: 10101176

Title: High polymorphism at the human melanocortin 1 receptor locus.

PubMed ID: 10101176

DOI: 10.1093/genetics/151.4.1547

PubMed ID: 11442765

Title: The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene.

PubMed ID: 11442765

DOI: 10.1046/j.0022-202x.2001.01393.x

PubMed ID: 11750130

Title: The human melanocortin-1 receptor locus: analysis of transcription unit, locus polymorphism and haplotype evolution.

PubMed ID: 11750130

DOI: 10.1016/s0378-1119(01)00791-0

PubMed ID: 11707265

Title: Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.

PubMed ID: 11707265

DOI: 10.1016/s0014-5793(01)03025-3

PubMed ID: 16463023

Title: Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

PubMed ID: 16463023

DOI: 10.1007/s00439-006-0141-1

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12663858

Title: The melanocortin-1 receptor gene mediates female-specific mechanisms of analgesia in mice and humans.

PubMed ID: 12663858

DOI: 10.1073/pnas.0730053100

PubMed ID: 19737927

Title: Mahogunin ring finger-1 (MGRN1) E3 ubiquitin ligase inhibits signaling from melanocortin receptor by competition with Galphas.

PubMed ID: 19737927

DOI: 10.1074/jbc.m109.028100

PubMed ID: 31097585

Title: Human nonvisual opsin 3 regulates pigmentation of epidermal melanocytes through functional interaction with melanocortin 1 receptor.

PubMed ID: 31097585

DOI: 10.1073/pnas.1902825116

PubMed ID: 9640562

Title: Modeling of the three-dimensional structure of the human melanocortin 1 receptor, using an automated method and docking of a rigid cyclic melanocyte-stimulating hormone core peptide.

PubMed ID: 9640562

DOI: 10.1016/s1093-3263(98)00004-7

PubMed ID: 7581459

Title: Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.

PubMed ID: 7581459

DOI: 10.1038/ng1195-328

PubMed ID: 8894704

Title: The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma.

PubMed ID: 8894704

DOI: 10.1093/hmg/5.10.1663

PubMed ID: 9302268

Title: Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.

PubMed ID: 9302268

DOI: 10.1093/hmg/6.11.1891

PubMed ID: 8990005

Title: Identification of common polymorphisms in the coding sequence of the human MSH receptor (MC1R) with possible biological effects.

PubMed ID: 8990005

DOI: 10.1002/(sici)1098-1004(1997)9:1<30::aid-humu5>3.0.co;2-t

PubMed ID: 9571181

Title: Human pigmentation phenotype: a point mutation generates nonfunctional MSH receptor.

PubMed ID: 9571181

DOI: 10.1006/bbrc.1998.8459

PubMed ID: 9665397

Title: Melanocortin 1 receptor variants in an Irish population.

PubMed ID: 9665397

DOI: 10.1046/j.1523-1747.1998.00252.x

PubMed ID: 10403794

Title: Loss of function mutations of the human melanocortin 1 receptor are common and are associated with red hair.

PubMed ID: 10403794

DOI: 10.1006/bbrc.1999.0935

PubMed ID: 12473109

Title: Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.

PubMed ID: 12473109

DOI: 10.1046/j.1432-1033.2002.03329.x

PubMed ID: 15972726

Title: Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk.

PubMed ID: 15972726

DOI: 10.1093/hmg/ddi219

PubMed ID: 17434924

Title: MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.

PubMed ID: 17434924

DOI: 10.1093/carcin/bgm084

PubMed ID: 17952075

Title: Genetic determinants of hair, eye and skin pigmentation in Europeans.

PubMed ID: 17952075

DOI: 10.1038/ng.2007.13

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

PubMed ID: 19338054

Title: Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

PubMed ID: 19338054

DOI: 10.1002/humu.20971

PubMed ID: 28501589

Title: Genetic modifiers of multiple sclerosis progression, severity and onset.

PubMed ID: 28501589

DOI: 10.1016/j.clim.2017.05.009

Sequence Information:

  • Length: 317
  • Mass: 34706
  • Checksum: CB67405A562C29B2
  • Sequence:
    • MAVQGSQRRL LGSLNSTPTA IPQLGLAANQ TGARCLEVSI SDGLFLSLGL VSLVENALVV 
ATIAKNRNLH SPMYCFICCL ALSDLLVSGS NVLETAVILL LEAGALVARA AVLQQLDNVI 
DVITCSSMLS SLCFLGAIAV DRYISIFYAL RYHSIVTLPR ARRAVAAIWV ASVVFSTLFI 
AYYDHVAVLL CLVVFFLAML VLMAVLYVHM LARACQHAQG IARLHKRQRP VHQGFGLKGA 
VTLTILLGIF FLCWGPFFLH LTLIVLCPEH PTCGCIFKNF NLFLALIICN AIIDPLIYAF 
HSQELRRTLK EVLTCSW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.