MCHR1 (melanin concentrating hormone receptor 1)

2016-10-01 Affiliation

Identity

HGNC

MCHR1

LOCATION

22q13.2

LOCUSID

2847

ALIAS

GPR24,MCH-1R,MCH1R,SLC-1,SLC1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2847
MIM: 601751
HGNC: 4479
Ensembl: ENSG00000128285

Variants:

dbSNP: 2847
ClinVar: 2847
TCGA: ENSG00000128285
COSMIC: MCHR1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128285	ENST00000249016	Q99705
ENSG00000128285	ENST00000381433	A6ZJ87

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Cargo trafficking to the periciliary membrane	REACTOME	R-HSA-5620920
BBSome-mediated cargo-targeting to cilium	REACTOME	R-HSA-5620922
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Peptide ligand-binding receptors	REACTOME	R-HSA-375276
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (i) signalling events	REACTOME	R-HSA-418594
G alpha (q) signalling events	REACTOME	R-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907

References

Pubmed ID	Year	Title	Citations
20734064	2010	A large-scale candidate gene association study of age at menarche and age at natural menopause.	38
15928315	2005	A point mutation in the human melanin concentrating hormone receptor 1 reveals an important domain for cellular trafficking.	22
12865333	2003	Melanin-concentrating hormone receptor 1 activates extracellular signal-regulated kinase and synergizes with G(s)-coupled pathways.	21
19453261	2009	High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.	20
19058789	2009	A common variant in DRD3 receptor is associated with autism spectrum disorder.	19
21637341	2011	Allele-specific, age-dependent and BMI-associated DNA methylation of human MCHR1.	16
19502010	2009	Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder.	14
12220661	2002	Human immune cells express ppMCH mRNA and functional MCHR1 receptor.	13
15166293	2004	Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.	12
15590649	2005	Periplakin interferes with G protein activation by the melanin-concentrating hormone receptor-1 by binding to the proximal segment of the receptor C-terminal tail.	10

Citation

Dessen P

MCHR1 (melanin concentrating hormone receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56204/mchr1