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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCHR1 Gene

protein-coding   GIFtS: 63
GCID: GC22P041074

Melanin-Concentrating Hormone Receptor 1

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and bardet-biedl syndrome, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MCHR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cell membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99705

  • MCHR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCHR1 Protein Expression
    REFSEQ proteins: NP_005288.3  
    ENSEMBL proteins: 
     ENSP00000249016   ENSP00000370841  
    Reactome Protein details: Q99705
    Human Recombinant Protein Products for MCHR1: 
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    MCHR1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    MCHR1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    MCHR1 for ontologies           About GeneDecksing


    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  homeostasis/metabolism 
     nervous system  skeleton 

    MCHR1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MCHR1 
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    SwitchGear 3'UTR luciferase reporter plasmidMCHR1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MCHR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)0.71
    G alpha (i) signalling events0.46
    GPCR ligand binding0.71
    GPCRs, Class A Rhodopsin-like0.41
    Peptide ligand-binding receptors0.60
    Neuroactive ligand-receptor interaction0.37
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    3G alpha (q) signalling events
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
    Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MCHR1
        Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q


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

    5/9        Reactome Pathways for MCHR1 (see all 9)
        GPCR downstream signaling
    Peptide ligand-binding receptors
    Gastrin-CREB signalling pathway via PKC and MAPK
    Signaling by GPCR
    GPCR ligand binding


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


    MCHR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MCHR1

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

    5/247 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): 5/8 biological process terms (GO ID links to tree view) (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:0007204elevation of cytosolic calcium ion concentration IEA--

    MCHR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MCHR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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]

    10/32 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)

    Search CenterWatch for drugs/clinical trials and news about MCHR1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/88 AceView cDNA sequences (see all 88):

    NM_005297 AW594542 CD620203 CD620201 AI655260 AI655105 Z40335 AW292677 
    F07228 AB063174 CR593233 CR601249 AI634395 BE550509 BT006725 BC021146 
    BG913631 AW027506 AF490537 AI650885 AI652444 CD620189 BC001736 CR456497 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MCHR1 expression in normal human tissues (normalized intensities)      MCHR1 embryonic expression: see
    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 
     5/30 selected tissues (see all 30) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             striatum   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   

    See MCHR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCHR1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including MCHR1: 
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              Obesity in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MCHR1 gene from 6/13 species (see all 13)    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 64.02(n)
    56.18(a)
      100859572  XM_003642370.1  XP_003642418.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCHR16
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343402.1(918700-922436)
    zebrafish
    (Danio rerio)
    Actinopterygii AY161857.12   -- 71.75(n)   353181  AY161857.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta star16
    AlCR26
    allatostatin C receptor 2
    19(a)
    17(a)
    many ↔ many
    many ↔ many
    3L(18553358-18569426)
    3L(18478237-18495657)
    worm
    (Caenorhabditis elegans)
    Secernentea npr-246
    npr-166
    Protein NPR-16, isoform a
    23(a)
    15(a)
    many ↔ many
    many ↔ many
    X(17483339-17486831)
    X(3528812-3531826)


    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)
    About This Section
    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

    MCHR1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/366 SNPs in MCHR1 are shown (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
    ----------
    VAR_0266554
    ----see VAR_0266552 R H mis40--------
    VAR_0266574
    ----see VAR_0266572 T M mis40--------
    VAR_0266564
    ----see VAR_0266562 Y H mis40--------
    VAR_0266594
    ----see VAR_0266592 P S mis40--------
    VAR_0266544
    ----see VAR_0266542 G R mis40--------
    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--------

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

    9 diseases for MCHR1:    About MalaCards
    vitiligo    bardet-biedl syndrome    autism spectrum disorder    mood disorder
    obesity    schizophrenia    neuroblastoma    melanoma
    neuronitis

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

    MCHR1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MCHR1 gene, integrated from 9 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. (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. (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. (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....Borglum A.D. (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. (2005)
    6. Mutation analysis of the MCHR1 gene in human obesity. (PubMed id 15941924)1, 2, 9 Wermter A.-K.... Hebebrand J. (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. (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. (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. (2009)
    10. Two complex genotypes relevant to the kynurenine path way and melanotropin function show association with schizophrenia and bipolar d isorder. (PubMed id 19502010)1, 4 Miller C.L....Leonard S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2847 HGNC: 4479 AceView: GPR24 Ensembl:ENSG00000128285 euGenes: HUgn2847
    ECgene: MCHR1 Kegg: 2847 H-InvDB: MCHR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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