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

    Gene ID: 5367, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PMCH in Genome Data Viewer
    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_000012.12Genomic Context describing neighboring genes Neighboring gene WASH complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6878 Neighboring gene nucleoporin 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6879 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:102514807-102515364 Neighboring gene PARP1 binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102546739-102547240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6880 Neighboring gene uncharacterized LOC124902998 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22888 Neighboring gene RNA, 7SL, cytoplasmic 793, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    pro-MCH
    Names
    prepro-MCH
    prepro-melanin-concentrating hormone

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_002674.4NP_002665.2  pro-MCH preproprotein

      See identical proteins and their annotated locations for NP_002665.2

      Status: REVIEWED

      Source sequence(s)
      CB047052, CB047053
      Consensus CDS
      CCDS31885.1
      UniProtKB/Swiss-Prot
      P20382, Q16044, Q8WVG0
      Related
      ENSP00000332225.4, ENST00000329406.5
      Conserved Domains (1) summary
      pfam05824
      Location:84165
      Pro-MCH; Pro-melanin-concentrating hormone (Pro-MCH)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      102196459..102197833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019483.3XP_016874972.1  pro-MCH isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      102157595..102158969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372307.1XP_054228282.1  pro-MCH isoform X1