Human Gene MC1R (ENST00000555147.2_6) from GENCODE V47lift37
  Description: melanocortin 1 receptor (from RefSeq NM_002386.4)
Gencode Transcript: ENST00000555147.2_6
Gencode Gene: ENSG00000258839.4_9
Transcript (Including UTRs)
   Position: hg19 chr16:89,985,270-89,987,380 Size: 2,111 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr16:89,985,667-89,986,620 Size: 954 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:89,985,270-89,987,380)mRNA (may differ from genome)Protein (317 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q1JUL4_HUMAN
DESCRIPTION: SubName: Full=Melanocortin 1 receptor; SubName: Full=Melanocortin 1 receptor (Alpha melanocyte stimulating hormone receptor); SubName: Full=cDNA FLJ14170 fis, clone NT2RP2002105, highly similar to Melanocyte-stimulating hormone receptor;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MC1R
Diseases sorted by gene-association score: melanoma, cutaneous malignant, 5* (905), uv-induced skin damage* (569), albinism, oculocutaneous, type ii* (477), mc1r-related cutaneous malignant melanoma* (100), ocular melanoma (28), lentigo maligna melanoma (18), malignant melanoma, somatic* (15), melanocytic nevus syndrome, congenital, somatic* (14), integumentary system cancer (11), melanoma (10), basal cell carcinoma (9), acute contagious conjunctivitis (9), congenital nystagmus (9), actinic keratosis (8), vulvar vestibulitis syndrome (7), acute conjunctivitis (7), uveal melanoma (7), dyschromatosis universalis hereditaria (5), angelman syndrome (2), cell type cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.02 RPKM in Testis
Total median expression: 112.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -175.40397-0.442 Picture PostScript Text
3' UTR -320.80760-0.422 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR001671 - Melcrt_ACTH_rcpt
IPR000761 - MSH_rcpt

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF13853 - Olfactory receptor

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on Q1JUL4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004977 melanocortin receptor activity
GO:0004980 melanocyte-stimulating hormone receptor activity

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK311630 - Homo sapiens cDNA, FLJ18672.
AK024232 - Homo sapiens cDNA FLJ14170 fis, clone NT2RP2002105, highly similar to Melanocyte-stimulating hormone receptor.
FZ428591 - JP 2011500004-A/4: Methods For Assaying MC1R Variants And Mitochondrial Markers In Skin Samples.
HI565108 - Sequence 4 from Patent EP2217730.
JD037162 - Sequence 18186 from Patent EP1572962.
JD120095 - Sequence 101119 from Patent EP1572962.
AK225902 - Homo sapiens mRNA for Melanocyte stimulating hormone receptor variant, clone: FCC120B12.
AK054666 - Homo sapiens cDNA FLJ30104 fis, clone BNGH41000169, highly similar to Melanocyte-stimulating hormone receptor.
JD131735 - Sequence 112759 from Patent EP1572962.
JD414417 - Sequence 395441 from Patent EP1572962.
BC007856 - Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor), mRNA (cDNA clone MGC:14337 IMAGE:4298428), complete cds.
JD393188 - Sequence 374212 from Patent EP1572962.
JD516915 - Sequence 497939 from Patent EP1572962.
JD370440 - Sequence 351464 from Patent EP1572962.
JD384017 - Sequence 365041 from Patent EP1572962.
JD421320 - Sequence 402344 from Patent EP1572962.
JD165766 - Sequence 146790 from Patent EP1572962.
JD344382 - Sequence 325406 from Patent EP1572962.
BC080622 - Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor), mRNA (cDNA clone MGC:99464 IMAGE:6267157), complete cds.
JD334836 - Sequence 315860 from Patent EP1572962.
X67594 - H.sapiens mRNA for MSH receptor.
JD382811 - Sequence 363835 from Patent EP1572962.
JD437414 - Sequence 418438 from Patent EP1572962.
BC020171 - Homo sapiens cDNA clone IMAGE:3543976, **** WARNING: chimeric clone ****.
JD435218 - Sequence 416242 from Patent EP1572962.
JD435727 - Sequence 416751 from Patent EP1572962.
CU675837 - Synthetic construct Homo sapiens gateway clone IMAGE:100018880 5' read MC1R mRNA.
DQ893267 - Synthetic construct clone IMAGE:100005897; FLH195777.01X; RZPDo839G02152D melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R) gene, encodes complete protein.
DQ896597 - Synthetic construct Homo sapiens clone IMAGE:100011057; FLH195773.01L; RZPDo839G02151D melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R) gene, encodes complete protein.
BT006971 - Homo sapiens tubulin, beta, 4 mRNA, complete cds.
JD494170 - Sequence 475194 from Patent EP1572962.
JD348266 - Sequence 329290 from Patent EP1572962.
JD068270 - Sequence 49294 from Patent EP1572962.
JD121653 - Sequence 102677 from Patent EP1572962.
JD104461 - Sequence 85485 from Patent EP1572962.
JD077454 - Sequence 58478 from Patent EP1572962.
JD548905 - Sequence 529929 from Patent EP1572962.
JD044507 - Sequence 25531 from Patent EP1572962.
JD230705 - Sequence 211729 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000555147.1, hCG_2039647 , MC1R , NM_002386, Q1JUL4, Q1JUL4_HUMAN, uc325gwm.1, uc325gwm.2
UCSC ID: ENST00000555147.2_6
RefSeq Accession: NM_002386.4
Protein: Q1JUL4

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.