Gene table of MC1R : melanocortin 1 receptor

Gene-disease associations table

Disease IDDisease nameSource of annotation with MC1ROMIM linkNumber of associated genesgenes
PS155600MELANOMA, CUTANEOUS MALIGNANTClinVar, OMIM, HUMSAVAR link to OMIM 11STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3
PS203100OCULOCUTANEOUS ALBINISMOMIM link to OMIM 7SLC45A2, C10orf11, TYRP1, OCA2, TYR, MC1R, SLC24A5
PS227220SKIN/HAIR/EYE PIGMENTATION, VARIATION INOMIM link to OMIM 12SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2
613098INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFICOMIM link to OMIM 1MC1R

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Annotation of the gene MC1R

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 730, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Melanogenesishsa049165.97
Neuroactive ligand-receptor interactionhsa040804.58
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by GPCRR-HSA-3727902.68
GPCR downstream signalingR-HSA-3883963.07
Class A/1 (Rhodopsin-like receptors)R-HSA-3730764.69
Peptide ligand-binding receptorsR-HSA-3752765.41
GPCR ligand bindingR-HSA-5007924.19
G alpha (s) signalling eventsR-HSA-4185555.99
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
G-protein coupled peptide receptor activityGO:00085284.86
G-protein coupled receptor activityGO:00049302.95
ubiquitin protein ligase bindingGO:00316254.17
ubiquitin-like protein ligase bindingGO:00443894.15
protein bindingGO:00055150.46
enzyme bindingGO:00198992.27
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
peptide receptor activityGO:00016534.84
receptor activityGO:00048722.32
signal transducer activityGO:00048712.28
melanocortin receptor activityGO:00049777.95
signaling receptor activityGO:00380232.49
melanocyte-stimulating hormone receptor activityGO:00049808.64
transmembrane receptor activityGO:00996002.53
bindingGO:00054880.18