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MCHR1 Gene

protein-coding   GIFtS: 63
GCID: GC22P041074

Melanin-Concentrating Hormone Receptor 1

(Previous name: G protein-coupled receptor 24)
(Previous symbol: GPR24)
  See MCHR1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Melanin-Concentrating Hormone Receptor 11 2     SLC-12 3
GPR241 2 3 5     MCH Receptor 12 3
SLC12 3 5     MCH-R13
G Protein-Coupled Receptor 241 2     MCHR3
Somatostatin Receptor-Like Protein2 3     MCHR-13
MCH-1R2 3     G-Protein Coupled Receptor 243
MCH1R2 3     

External Ids:    HGNC: 44791   Entrez Gene: 28472   Ensembl: ENSG000001282857   OMIM: 6017515   UniProtKB: Q997053   

Export aliases for MCHR1 gene to outside databases

Previous GC identifers: GC22P039405 GC22P024040


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MCHR1 Gene:
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)

GeneCards Summary for MCHR1 Gene:
MCHR1 (melanin-concentrating hormone receptor 1) is a protein-coding gene. Diseases associated with MCHR1 include vitiligo. GO annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is SSTR3.

UniProtKB/Swiss-Prot: MCHR1_HUMAN, Q99705
Function: Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and
G proteins that activate phosphoinositide hydrolysis

summary for MCHR1 Gene:
Melanin-concentrating hormone (MCH) is a neuropeptide that is expressed in the central and peripheral
nervous systems and plays an important role in the control of feeding behaviors and energy metabolism. MCH
acts on two GPCRs; MCH1 (GPR24) and MCH2 (GPR145). MCH1 and MCH2 have very similar tissue distribution
patterns and are expressed in many brain regions, particularly the ventromedial, dorsalmedial and arcuate
nuclei of the hypothalamus and zona incerta. They are also found at lower levels in the periphery including
in the pituitary gland, adipose tissue and pancreas. MCH1 is a target for the orexigenic peptide leptin,
which supports a role for MCH receptors in the control of food intake and energy expenditure. The human
genes encoding MCH1 and MCH2 are localized to chromosomes 22q13.3 and 6q21 respectively. MCH2 is a
pseudogene in rodents.

Gene Wiki entry for MCHR1 (Melanin-concentrating hormone receptor 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCHR1 gene promoter:
         Bach1   AML1a   p53   Pax-5   Bach2   FOXD3   NRSF form 2   GATA-1   HEN1   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCHR1 promoter sequence
   Search Chromatin IP Primers for MCHR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCHR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.3

MCHR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCHR1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P041074:  view genomic region     (about GC identifiers)

Start:
41,074,754 bp from pter      End:
41,078,818 bp from pter
Size:
4,065 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MCHR1_HUMAN, Q99705 (See protein sequence)
Recommended Name: Melanin-concentrating hormone receptor 1  
Size: 422 amino acids; 45963 Da
Subunit: Interacts with NCDN
Caution: It is uncertain whether Met-1, Met-6 or Met-70 is the initiator
Sequence caution: Sequence=AAC14587.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RBX6 Q5R3J1 Q96S47 Q9BV08

Explore the universe of human proteins at neXtProt for MCHR1: NX_Q99705

Explore proteomics data for MCHR1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn82, Asn85, Asn92
  • Modification sites at PhosphoSitePlus

  • See MCHR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005288.3  
    ENSEMBL proteins: 
     ENSP00000249016   ENSP00000370841  
    Reactome Protein details: Q99705

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MCHR: GPCR / Class A : MCH receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: MCH1 receptor
    Melanin-concentrating hormone receptors

    4 InterPro protein domains:
     IPR008361 MCH_rcpt
     IPR017452 GPCR_Rhodpsn_7TM
     IPR004047 MCH1_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q99705

    ProtoNet protein and cluster: Q99705

    1 Blocks protein domain: IPB004047 Melanin-concentrating hormone 1 receptor signature

    UniProtKB/Swiss-Prot: MCHR1_HUMAN, Q99705
    Similarity: Belongs to the G-protein coupled receptor 1 family


    Find genes that share domains with MCHR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCHR1_HUMAN, Q99705
    Function: Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and
    G proteins that activate phosphoinositide hydrolysis

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity TAS10421367
    GO:0008022protein C-terminus binding IEA--
    GO:0008188neuropeptide receptor activity TAS10860944
    GO:0030273melanin-concentrating hormone receptor activity IEA--
    GO:0042562hormone binding IEA--
         
    Find genes that share ontologies with MCHR1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MCHR1:
     Decreased Salmonella enterica   Increased G1 DNA content  Increased Salmonella enterica  

         7 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Mchr1):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism 
     nervous system  skeleton 

    Find genes that share phenotypes with MCHR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MCHR1: Mchr1tm1.1Blak Mchr1tm1Dgam Mchr1tm1Blak Mchr1tm1Sqn Mchr1tm1Ohl Mchr1tm1Lex
                                                         Mchr1tm1Yush

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    SwitchGear 3'UTR luciferase reporter plasmidMCHR1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MCHR1_HUMAN, Q99705: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS10421367
    GO:0016021integral component of membrane ----
    GO:0031513nonmotile primary cilium ISS--

    Find genes that share ontologies with MCHR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MCHR1 About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    G alpha (i) signalling events0.44
    GPCR ligand binding0.71
    GPCRs, Class A Rhodopsin-like0.43
    Peptide ligand-binding receptors0.60
    Neuroactive ligand-receptor interaction0.36
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Neuropeptides signaling through G protein alpha i and G protein alpha q
    Neuropeptides signaling through G protein alpha i and G protein alpha q0.46


    Find genes that share SuperPaths with MCHR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MCHR1
        GPCRs, Class A Rhodopsin-like

    3 Reactome Pathways for MCHR1
        Peptide ligand-binding receptors
    G alpha (q) signalling events
    G alpha (i) signalling events


    1 Kegg Pathway  (Kegg details for MCHR1):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MCHR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MCHR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MCHR1 (Q997053 ENSP000002490164) via UniProtKB, MINT, STRING, and/or I2D (see all 247)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PMCHP203823, ENSP000003322254I2D: score=1 STRING: ENSP00000332225
    ZMYND19Q96E353, ENSP000002985854I2D: score=1 STRING: ENSP00000298585
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADORA1ENSP000003085494STRING: ENSP00000308549
    ADRA2BENSP000003872814STRING: ENSP00000387281
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS10421367
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway TAS10421368
    GO:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS10421367
    GO:0007204positive regulation of cytosolic calcium ion concentration IEA--

    Find genes that share ontologies with MCHR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Compounds for MCHR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SNAP 94847 hydrochloridePotent and selective MCH1 antagonist[487051-12-7]
    GW 803430MCH1 antagonist[515141-51-2]
    ATC 0175 hydrochlorideMCH1 antagonist; also 5-HT2B antagonist and 5-HT1A partial agonist[510733-97-8]
    MCH (human, mouse, rat) Potent endogenous MCH agonist[128315-56-0]
    [Ala17]-MCH Potent, MCH receptor agonist [359784-84-2]

    Selected IUPHAR Ligands for MCHR1 (MCH1 receptor) (see all 32)    About this table
    LigandTypeActionAffinityPubmed IDs
    [125I]MCH (human, mouse, rat)
    AgonistFull agonist9.7 - 10.810421367
    melanin-concentrating hormone
    AgonistFull agonist9.7 - 10.510421367 11375253
    S36057
    AgonistFull agonist10.1 - 10.411375253
    [Phe13,Tyr19]MCH
    AgonistFull agonist8.2 - 1011404457 11159839 10421367
    S38151
    AntagonistAntagonist9.3 - 1019619599
    Ac-hMCH-(6-16)-NH2
    AgonistFull agonist9.7 - 9.912009900
    MCH6-17
    AgonistFull agonist9.2 - 9.811375253
    compound 2 [PMID:11375253]
    AgonistFull agonist9.711375253
    MCH (salmon)
    AgonistFull agonist9.4 - 9.610421367 11375253
    [125I]S36057
    AntagonistAntagonist9.2 - 9.511375253

    6 Novoseek inferred chemical compound relationships for MCHR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aminoquinoline 79.1 2 17897030 (1), 16919456 (1)
    lead 45.1 2 15953726 (1), 16919453 (1)
    calcium 7.9 5 11909603 (1), 15476925 (1), 18760349 (1), 19397943 (1) (see all 5)
    haloperidol 5.41 4 16983399 (1), 8977118 (1)
    forskolin 0.777 2 12865333 (1)
    arginine 0 1 15890773 (1)



    Find genes that share compounds with MCHR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MCHR1 gene: 
    NM_005297.3  

    Unigene Cluster for MCHR1:

    Melanin-concentrating hormone receptor 1
    Hs.248122  [show with all ESTs]
    Unigene Representative Sequence: AF490537
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000249016(uc003ayz.3 uc003aza.3) ENST00000498400 ENST00000381433
    ENST00000465662
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      QuantiTect SYBR Green Assays in human, mouse, rat MCHR1
      QuantiFast Probe-based Assays in human, mouse, rat MCHR1

    Additional mRNA sequence: 

    AB063174.1 AF490537.2 AK308739.1 AK314857.1 AY562945.1 AY745811.1 AY747629.1 BC001736.1 
    BC021146.1 BT006725.1 CR456497.1 

    7 DOTS entries:

    DT.100734815  DT.75100905  DT.100732600  DT.100691789  DT.100695992  DT.100698467  DT.100841752 

    Selected AceView cDNA sequences (see all 88):

    F07228 AI634395 NM_005297 CR601249 BE550509 AI655105 CD620201 CD620203 
    CR593233 AW594542 AB063174 AW292677 AI655260 Z40335 AW027506 CR456497 
    CD620196 BF062097 BX403468 AI934819 AI650885 BX387353 AI421473 AY562945 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MCHR1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b
    SP1:                    -           -               
    SP2:                    -                           
    SP3:              -     -                           
    SP4:                                                


    ECgene alternative splicing isoforms for MCHR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MCHR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MCHR1 Expression
    About this image


    MCHR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MCHR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCHR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248122

    UniProtKB/Swiss-Prot: MCHR1_HUMAN, Q99705
    Tissue specificity: Highest level in brain, particularly in the frontal cortex and hypothalamus, lower levels in
    the liver and heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MCHR1: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MCHR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mchr11 , 5 melanin-concentrating hormone receptor 11, 5 88.95(n)1
    96.03(a)1
      15 (38.02 cM)5
    2079111  NM_145132.21  NP_660114.11 
     812354995 
    chicken
    (Gallus gallus)
    Aves LOC1008595721 melanin-concentrating hormone receptor 1-like 66.56(n)
    59.41(a)
      100859572  XM_004946374.1  XP_004946431.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCHR16
    melanin-concentrating hormone receptor 1
    59(a)
    1 ↔ 1
    GL343402.1(918700-922436)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mchr1.21 melanin-concentrating hormone receptor 1, gene 2 64.53(n)
    67.07(a)
      779692  NM_001078775.1  NP_001072243.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY161857.12   -- 71.75(n)   353181  AY161857.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta star16
    AlCR26
    allatostatin C receptor 2
    21(a)
    18(a)
    many ↔ many
    many ↔ many
    3L(18553358-18569426)
    3L(18478237-18495657)
    worm
    (Caenorhabditis elegans)
    Secernentea npr-246
    Protein NPR-24 (npr-24) mRNA, complete cds
    23(a)
    1 → many
    X(17483339-17486831) WBGene00020086


    ENSEMBL Gene Tree for MCHR1 (if available)
    TreeFam Gene Tree for MCHR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCHR1 gene
    SSTR32  OPRL12  OPRK12  NPBWR12  OPRD12  KISS1R2  GALR12  SSTR42  
    GALR22  SSTR52  MCHR22  SSTR12  GALR32  SSTR22  OPRM12  NPBWR22  
    13 SIMAP similar genes for MCHR1 using alignment to 2 protein entries:     MCHR1_HUMAN (see all proteins):
    GPR24    MCHR2    SSTR1    SSTR4    SSTR5    SSTR2
    OPRK1    LTB4R    OPRD1    OPRM1    NPBWR1    NPBWR2
    SSTR3

    Find genes that share paralogs with MCHR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MCHR1 (see all 366)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1898586161,2
    C--24990356(+) CCAGCC/TAATTT 1 -- us2k10--------
    rs1822249371,2
    --24990396(+) CTTGTA/TGGCCA 1 -- us2k10--------
    rs1872373721,2
    --24990435(+) TCCGCC/TTGCCT 1 -- us2k10--------
    rs1917162711,2
    --24990569(+) ATCCTC/TTATAA 1 -- us2k10--------
    rs1488148031,2
    --24990671(+) ATGTGA/GAGTAT 1 -- us2k10--------
    rs60020141,2
    --24990676(+) GAGTAA/TATAtt 1 -- us2k10--------
    rs75112301,2
    C--24990686(+) tttttC/Tttttt 1 -- us2k1 trp30--------
    rs1998652261,2
    --24990690(+) CTTTT-/CTTTTG 1 -- us2k10--------
    rs286441681,2
    --24990759(+) GCAAGC/GTCCGC 1 -- us2k10--------
    rs1833683031,2
    --24990899(+) GTCTCG/TATCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MCHR1 (41074754 - 41078818 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MCHR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915111CNV Loss21882294
    nsv915112CNV Loss21882294
    nsv834205CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): MCHR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCHR1
    DNA2.0 Custom Variant and Variant Library Synthesis for MCHR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601751    OMIM disorders: --

    1 disease for MCHR1:    
    About MalaCards
    vitiligo

    2 diseases from the University of Copenhagen DISEASES database for MCHR1:
    Vitiligo     Bardet-Biedl syndrome

    Find genes that share disorders with MCHR1           About GenesLikeMe

    3 Novoseek inferred disease relationships for MCHR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 56 28 15941924 (3), 18523032 (2), 16186414 (2), 15330743 (2) (see all 15)
    vitiligo 46.8 7 11927619 (2), 14632194 (2), 19320743 (1)
    melanoma 0 2 12176038 (1), 11708774 (1)

    Genetic Association Database (GAD): MCHR1
    Human Genome Epidemiology (HuGE) Navigator: MCHR1 (12 documents)

    Export disorders for MCHR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCHR1 gene, integrated from 10 sources (see all 132):
    (articles sorted by number of sources associating them with MCHR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Melanin-concentrating hormone receptor mutations and human obesity: functional analysis. (PubMed id 15166293)1, 2, 4 Gibson W.T.... Farooqi I.S. (Obes. Res. 2004)
    2. Identification and characterization of single-nucleotide polymorphisms in MCH-R1 and MCH-R2. (PubMed id 15340116)1, 2, 9 Hawes B.E....Simon J.S. (Obes. Res. 2004)
    3. Single nucleotide polymorphisms of the MCHR1 gene do not affect metabolism in humans. (PubMed id 18198296)1, 4, 9 Rutanen J....Laakso M. (Obesity (Silver Spring) 2007)
    4. Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia. (PubMed id 16741940)1, 4, 9 Severinsen J.E....rglum A.D. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006)
    5. Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity. (PubMed id 16186414)1, 4, 9 Bell C.G....Walley A.J. (Diabetes 2005)
    6. Mutation analysis of the MCHR1 gene in human obesity. (PubMed id 15941924)1, 2, 9 Wermter A.-K.... Hebebrand J. (Eur. J. Endocrinol. 2005)
    7. Characterization of a human gene related to genes encoding somatostatin receptors. (PubMed id 8977118)1, 2, 9 Kolakowski L.F. Jr.... O'Dowd B.F. (FEBS Lett. 1996)
    8. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    9. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    10. Two complex genotypes relevant to the kynurenine pathway and melanotropin function show association with schizophrenia and bipolar disorder. (PubMed id 19502010)1, 4 Miller C.L....Leonard S. (Schizophr. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2847 HGNC: 4479 AceView: GPR24 Ensembl:ENSG00000128285 euGenes: HUgn2847
    ECgene: MCHR1 Kegg: 2847 H-InvDB: MCHR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MCHR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCHR1 gene:
    Search GeneIP for patents involving MCHR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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