PMCH pro-melanin concentrating hormone [Homo sapiens (human)] - Gene

Summary

Official Symbol: PMCHprovided by HGNC
Official Full Name: pro-melanin concentrating hormoneprovided by HGNC
Primary source: HGNC:HGNC:9109
See related: Ensembl:ENSG00000183395 MIM:176795; AllianceGenome:HGNC:9109
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: MCH; ppMCH
Summary: This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]
Expression: Broad expression in bone marrow (RPKM 1.1), lymph node (RPKM 0.9) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (102196459..102197833, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (102157595..102158969, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (102590237..102591611, complement)

Chromosome 12 - NC_000012.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Melanin-Concentrating Hormone Is Associated With Delayed Neurocognitive Recovery in Older Adult Patients With Preoperative Sleep Disorders Undergoing Spinal Anesthesia.
Title: Melanin-Concentrating Hormone Is Associated With Delayed Neurocognitive Recovery in Older Adult Patients With Preoperative Sleep Disorders Undergoing Spinal Anesthesia.
Melanin-concentrating hormone and food intake control: Sites of action, peptide interactions, and appetition.
Title: Melanin-concentrating hormone and food intake control: Sites of action, peptide interactions, and appetition.
MCH is an anabolic neuropeptide with multiple and diverse physiological functions including a key role in energy homoeostasis; evidence suggests that, in the reproductive context, MCH is a modulator rather than a primary regulator.
Title: The roles of melanin-concentrating hormone in energy balance and reproductive function: Are they connected?
Cerebrospinal fluid (CSF) levels were measured in 33 patients with Alzheimer's disease (AD) and 33 healthy subjects, to investigate the role of MCH and HCRT-1 in AD.
Title: Cerebrospinal fluid melanin-concentrating hormone (MCH) and hypocretin-1 (HCRT-1, orexin-A) in Alzheimer's disease.
the changes in the levels of two hypothalamic neuropeptides, hypocretin-1 and melanin-concentrating hormone, measured in the human amygdala, are reported.
Title: Human hypocretin and melanin-concentrating hormone levels are linked to emotion and social interaction.
Melanin-concentrating hormone (MCH) neurons of human hypothalamus, as well as the MCH neurons of mouse hypothalamus, contain IL-6Ralpha.
Title: Interleukin-6 receptor α is co-localised with melanin-concentrating hormone in human and mouse hypothalamus.
PMCH mRNA expression level was increased 1.85 times (P < 0.01) in vitiligo uninvolved skin and 5.36 times (P < 0.01) in involved skin compared to healthy control skin.
Title: Analysis of the expression profile of CRH-POMC system genes in vitiligo skin biopsies.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Identification of 15 loci influencing height in a Korean population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
The total number of hypocretin-1 neurons was significantly reduced by 30% in HD brains (P = 0.015), while the total number of MCH neurons was not significantly altered (P = 0.100).
Title: Hypocretin and melanin-concentrating hormone in patients with Huntington disease.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

Description
Identification of 15 loci influencing height in a Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D12S1939 (e-PCR)
- UniSTS:59436

RH102014 (e-PCR)
- UniSTS:96348

G73161 (e-PCR)
- UniSTS:231358

MARC_1391-1392:997375485:1 (e-PCR)
- UniSTS:231358

MARC_5061-5062:991939462:1 (e-PCR)
- UniSTS:231140

MARC_5061-5062:996690098:1 (e-PCR)
- UniSTS:231140

D5F143S1 (e-PCR)
- UniSTS:156658

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables melanin-concentrating hormone activity	IEA Inferred from Electronic Annotation more info
enables type 1 melanin-concentrating hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in feeding behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of synaptic transmission, dopaminergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuropeptide signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pro-MCH

Names: prepro-MCH; prepro-melanin-concentrating hormone

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.