Tissue expression of MC1R - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	MC1R
Gene description	Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Protein class	Disease related genes G-protein coupled receptors Potential drug targets Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (testis)
GTEx:	Mixed
FANTOM5:	Tissue enhanced (caudate)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (caudate)

GENE INFORMATION
Gene name	MC1R (HGNC Symbol)
Synonyms	MSH-R
Description	Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (HGNC Symbol)
Entrez gene summary	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]
Chromosome	16
Cytoband	q24.3
Chromosome location (bp)	89912119 - 89920977
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000258839 (version 83.38)
Entrez gene	4157
UniProt	Q01726 (UniProt - Evidence at protein level)
neXtProt	NX_Q01726
Antibodypedia	MC1R antibodies

PROTEIN BROWSER

MC1R-001	MC1R-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MC1R-001 ENSP00000451605 ENST00000555147	Q01726 [Direct mapping] Melanocyte-stimulating hormone receptor Q1JUL4 [Target identity:100%; Query identity:100%] Melanocyte-stimulating hormone receptor Show all	G-protein coupled receptors GPCRs excl olfactory receptors Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins GPCRHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0004930 [G-protein coupled receptor activity] GO:0004977 [melanocortin receptor activity] GO:0004980 [melanocyte-stimulating hormone receptor activity] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0007187 [G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger] GO:0007275 [multicellular organismal development] GO:0008528 [G-protein coupled peptide receptor activity] GO:0009650 [UV protection] GO:0010739 [positive regulation of protein kinase A signaling] GO:0016021 [integral component of membrane] GO:0019233 [sensory perception of pain] GO:0030819 [positive regulation of cAMP biosynthetic process] GO:0031625 [ubiquitin protein ligase binding] GO:0032720 [negative regulation of tumor necrosis factor production] GO:0035556 [intracellular signal transduction] GO:0042438 [melanin biosynthetic process] GO:0043473 [pigmentation] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0051897 [positive regulation of protein kinase B signaling] GO:0070914 [UV-damage excision repair] GO:0090037 [positive regulation of protein kinase C signaling] Show all	317 aa 34.7 kDa	No	7
MC1R-002 ENSP00000451760 ENST00000555427	G3V4F0 [Direct mapping] Melanocyte-stimulating hormone receptor Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins GPCRHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Show all	GO:0004930 [G-protein coupled receptor activity] GO:0004980 [melanocyte-stimulating hormone receptor activity] GO:0005886 [plasma membrane] GO:0007186 [G-protein coupled receptor signaling pathway] GO:0016021 [integral component of membrane] Show all	382 aa 41.6 kDa	No	7