MCHR1 melanin concentrating hormone receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MCHR1provided by HGNC
Official Full Name: melanin concentrating hormone receptor 1provided by HGNC
Primary source: HGNC:HGNC:4479
See related: Ensembl:ENSG00000128285 MIM:601751; AllianceGenome:HGNC:4479
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLC1; GPR24; MCH1R; SLC-1; MCH-1R
Summary: 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]
Expression: Biased expression in brain (RPKM 4.7), ovary (RPKM 1.2) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (40679484..40682812)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41151449..41154777)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41075488..41078816)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PDGF Promotes Dermal Fibroblast Activation via a Novel Mechanism Mediated by Signaling Through MCHR1.
Title: PDGF Promotes Dermal Fibroblast Activation via a Novel Mechanism Mediated by Signaling Through MCHR1.
Melanin Concentrating Hormone Signaling Deficits in Schizophrenia: Association With Memory and Social Impairments and Abnormal Sensorimotor Gating.
Title: Melanin Concentrating Hormone Signaling Deficits in Schizophrenia: Association With Memory and Social Impairments and Abnormal Sensorimotor Gating.
Polymorphisms in the MCHR1 gene are associated with differences in body composition and interact with physiologic and energy-related lifestyle factors.
Title: Melanin-concentrating hormone receptor 1 polymorphisms are associated with components of energy balance in the Complex Diseases in the Newfoundland Population: Environment and Genetics (CODING) study.
results suggest that MCHR1 may influence schizophrenia susceptibility, in particular among men and patients responding to conventional (nonclozapine) treatment
Title: The gene encoding the melanin-concentrating hormone receptor 1 is associated with schizophrenia in a Danish case-control sample.
SLC-1 protein human mutation demonstrated important genetic susceptibility of sporadic nonsyndromic hearing loss in China.
Title: Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China.
DNA methylation at MCHR1 is allele-specific, age-dependent, body mass index-associated and affects transcription.
Title: Allele-specific, age-dependent and BMI-associated DNA methylation of human MCHR1.
two loss-of-function mutants were identified in markedly underweight individuals, raising the possibility that a lean phenotype may be linked to deficient MCHR1 signaling
Title: Two naturally occurring mutations in the type 1 melanin-concentrating hormone receptor abolish agonist-induced signaling.
MCHR1 expression level was 1.6 times higher in vitiligo uninvolved skin (P < 0.05) and 2.23 times lower in involved skin (P < 0.05), when compared to healthy control skin.
Title: Analysis of the expression profile of CRH-POMC system genes in vitiligo skin biopsies.
data suggest that RGS2 and RGS8 differentially associate with MCHR1 and may represent two distinct modes of signaling mechanisms in vivo
Title: Functional interaction of regulator of G protein signaling-2 with melanin-concentrating hormone receptor 1.
analysis of epitope specificity of MCHR1 antibodies
Title: Mapping of melanin-concentrating hormone receptor 1 B cell epitopes predicts two major binding sites for vitiligo patient autoantibodies.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GPR24_1570 (e-PCR)
- UniSTS:277292

GPR24_v549 (e-PCR)
- UniSTS:277292

D22S1131 (e-PCR)
- UniSTS:154220

RH103329 (e-PCR)
- UniSTS:97660

RH80848 (e-PCR)
- UniSTS:86173

WI-22361 (e-PCR)
- UniSTS:2512

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone binding	IEA Inferred from Electronic Annotation more info
enables melanin-concentrating hormone receptor activity	IEA Inferred from Electronic Annotation more info
enables neuropeptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables neuropeptide receptor activity	TAS Traceable Author Statement more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in feeding behavior	TAS Traceable Author Statement more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in ciliary membrane	IEA Inferred from Electronic Annotation more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in non-motile cilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: melanin-concentrating hormone receptor 1

Names: G protein-coupled receptor 24; MCH receptor 1; somatostatin receptor-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029686.1 RefSeqGene

Range

5307..8635

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005297.4 → NP_005288.4 melanin-concentrating hormone receptor 1

Status: REVIEWED

Source sequence(s)

Z86090

Consensus CDS

CCDS14004.2

UniProtKB/Swiss-Prot

B2RBX6, Q5R3J1, Q96S47, Q99705, Q9BV08

UniProtKB/TrEMBL

Q5IFI4

Related

ENSP00000249016.5, ENST00000249016.5

Conserved Domains (1) summary

cd15338
Location:41 → 322

7tmA_MCHR1; melanin concentrating hormone receptor 1, member of the class A family of seven-transmembrane G protein-coupled receptors