MCHR1

Chr 22

melanin concentrating hormone receptor 1

Also known as: GPR24, MCH-1R, MCH1R, SLC-1, SLC1

NCBI Gene: 2847ENSG00000128285UniProt: Q99705

The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]

127
ClinVar variants
20
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MCHR1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 88 VUS of 127 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.28LOEUF
pLI 0.000
Z-score 0.90
OE 0.71 (0.42–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.75Z-score
OE missense 1.13 (1.03–1.25)
286 obs / 252.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.71 (0.42–1.28)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.13 (1.03–1.25)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.28
0≤1.21.6
LoF obs/exp: 8 / 11.3Missense obs/exp: 286 / 252.5Syn Z: -2.36

ClinVar Variant Classifications

127 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
VUS88
Likely Benign16
Benign3
19
Pathogenic
1
Likely Pathogenic
88
VUS
16
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
64
24
0
88
Likely Benign
0
3
7
6
16
Benign
0
1
1
1
3
Total068527127

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MCHR1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Evolution of physicochemical properties of melanin concentrating hormone receptor 1 (MCHr1) antagonists.
Johansson A·Bioorg Med Chem Lett
2016Review
Immunodetection of the MCHR1 antibody in vitiligo patient sera.
Zhou M et al.·Int J Mol Med
2011
Computational prediction of analog compounds of the membrane protein MCHR1 antagonists ALB-127158 and KRX-104130.
Sariyer E et al.·J Bioenerg Biomembr
2023
Identification and New Indication of Melanin-Concentrating Hormone Receptor 1 (MCHR1) Antagonist Derived from Machine Learning and Transcriptome-Based Drug Repositioning Approaches.
Lim G et al.·Int J Mol Sci
2022
Melanin-concentrating hormone receptor-1 antagonists as antiobesity therapeutics: current status.
Kowalski TJ et al.·BioDrugs
2007Review
Novel MCH1 receptor antagonists: a patent review.
Johansson A et al.·Expert Opin Ther Pat
2015Review
Biological examination of melanin concentrating hormone receptor 1: multi-tasking from the hypothalamus.
Rokosz LL et al.·Drug News Perspect
2006Review
Allele-specific, age-dependent and BMI-associated DNA methylation of human MCHR1.
Stepanow S et al.·PLoS One
2011
PyRod Enables Rational Homology Model-based Virtual Screening Against MCHR1.
Schaller D et al.·Mol Inform
2020Functional
[Selective signaling pathway via feeding-related ciliary GPCR, melanin-concentrating hormone receptor 1].
Saito Y et al.·Nihon Yakurigaku Zasshi
2019Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools