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    GRM1 glutamate receptor, metabotropic 1 [ Homo sapiens (human) ]

    Gene ID: 2911, updated on 12-May-2013
    Official Symbol
    GRM1provided by HGNC
    Official Full Name
    glutamate receptor, metabotropic 1provided by HGNC
    Primary source
    HGNC:4593
    See related
    Ensembl:ENSG00000152822; HPRD:05129; MIM:604473; Vega:OTTHUMG00000015752
    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
    MGLU1; GPRC1A; MGLUR1; SCAR13
    Summary
    This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
    Location :
    6q24
    Sequence :
    Chromosome: 6; NC_000006.11 (146348782..146758731)
    See GRM1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507557 Neighboring gene F-box protein 30 Neighboring gene SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase Neighboring gene FUN14 domain containing 2 pseudogene 3 Neighboring gene RAB32, member RAS oncogene family Neighboring gene androglobin Neighboring gene katanin p80 subunit B-like 1 pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Human Synaptic Plasticity Gene Expression Profile and Dendritic Spine Density Changes in HIV-Infected Human CNS Cells: Role in HIV-Associated Neurocognitive Disorders (HAND). Atluri VS, et al. PLoS One, 2013. PMID 23620748.
    2. Two newly identified exons in human GRM1 express a novel splice variant of metabotropic glutamate 1 receptor. DiRaddo JO, et al. Gene, 2013 May 1. PMID 23481697.
    3. Somatic mutations in GRM1 in cancer alter metabotropic glutamate receptor 1 intracellular localization and signaling. Esseltine JL, et al. Mol Pharmacol, 2013 Apr. PMID 23303475.
    4. Rab8 modulates metabotropic glutamate receptor subtype 1 intracellular trafficking and signaling in a protein kinase C-dependent manner. Esseltine JL, et al. J Neurosci, 2012 Nov 21. PMID 23175844.
    5. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Guergueltcheva V, et al. Am J Hum Genet, 2012 Sep 7. PMID 22901947.

    See all (87) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. demethylation within the promoter region of GRM1 may also be a mechanism for the derepression of mGluR1 expression in melanocytes that progress to cell transformation and tumor formation.
      Title: Regulation of mGluR1 expression in human melanocytes and melanoma cells.
    2. These experiments provide us with an understanding of the role Rabs play in coordinated regulation of mGluR1a and how this impacts mGluR1a signaling
      Title: Rab8 modulates metabotropic glutamate receptor subtype 1 intracellular trafficking and signaling in a protein kinase C-dependent manner.
    3. Only a single subunit assumes an active state in an mGluR1 receptor dimer.
      Title: Sequential inter- and intrasubunit rearrangements during activation of dimeric metabotropic glutamate receptor 1.
    4. The study implicates mGluR1 in human hereditary ataxia.
      Title: Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
    5. Normal, non-mutated CFTR, as well as mutated forms of CFTR were associated with metabotropic mGluR1.
      Title: mGluR1 interacts with cystic fibrosis transmembrane conductance regulator and modulates the secretion of IL-10 in cystic fibrosis peripheral lymphocytes.
    6. Deleterious GRM1 mutations are associated with schizophrenia.
      Title: Deleterious GRM1 mutations in schizophrenia.
    7. This study demonistrated that childhood-onset mood disorders and suicide attempt association between HOMER1 rs2290639 and between NPTX2 markers rs705315 and rs1681248.
      Title: Association study of early-immediate genes in childhood-onset mood disorders and suicide attempt.
    8. Within the GRM1 locus, 22 SNPs showed nominally significant association with UPD, of which 6 withstood corrections for multiple testing.
      Title: Polymorphisms within the metabotropic glutamate receptor 1 gene are associated with depression phenotypes.
    9. Observations implicate mGluR1 and glutamate signaling as a promising new molecular target for the treatment of breast cancer.
      Title: Metabotropic glutamate receptor-1: a potential therapeutic target for the treatment of breast cancer.
    10. These data indicate group I mGluRs are highly expressed on oligodendrocytes during the peak period of vulnerability to HI and modulation of mGluRs is protective in a rodent model of periventricular leukomalacia.
      Title: Developmental regulation of group I metabotropic glutamate receptors in the premature brain and their protective role in a rodent model of periventricular leukomalacia.
    Submit: New GeneRIF Correction See all (45)

    Review eQTL and phenotype association data in this region using PheGenI

    Protein Gene Interaction Pubs
    Tat, p14 tat HIV-1 Tat potentiates the depolarization-evoked exocytosis of aspartate from human neocortical terminals, which involves the metabotropic glutamate (mGlu) 1 receptor PubMed
    tat HIV-1 Tat upregulates N-methyl-D-aspartate receptor function by activating metabotropic glutamate receptor 1 in human brain noradrenergic neurons PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    Q13255 P30542 ADORA1    HPRD  PubMed  
    Q13255 P25098 ADRBK1    HPRD  PubMed  
    Q13255 P52799 EFNB2    HPRD  PubMed  
    Q13255 P04406 GAPDH    HPRD  PubMed  
    Q13255 Q5JY77 GPRASP1    HPRD  PubMed  
    Q13255 Q7Z6J2 GRASP    HPRD  PubMed  
    Q13255 Q13255 GRM1    HPRD  PubMed  
    Q13255 Q86YM7 HOMER1    HPRD  PubMed  
    Q13255 Q9NSB8 HOMER2    HPRD  PubMed  
    Q13255 Q14643 ITPR1    HPRD  PubMed  
    Q13255 P17252 PRKCA    HPRD  PubMed  
    Q13255 P07437 TUBB    HPRD  PubMed  
    BioGRID:109168 BioGRID:106646 ADORA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109168 BioGRID:106665 ADRBK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109168 BioGRID:109168 GRM1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109168 BioGRID:109314 HTT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109168 BioGRID:115436 OPTN    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109168 BioGRID:113071 TRPC1    BioGRID  PubMed Affinity Capture-Western 
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystem (from REACTOME)
      Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystemThe class C G-protein-coupled receptors are a class of G-protein coupled receptors that include the metabotropic glutamate receptors and several additional receptors (Bräuner-Osborne H et al, 2007)....
    • Estrogen signaling pathway, organism-specific biosystem (from KEGG)
      Estrogen signaling pathway, organism-specific biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
    • Estrogen signaling pathway, conserved biosystem (from KEGG)
      Estrogen signaling pathway, conserved biosystemEstrogens are steroid hormones that regulate a plethora of physiological processes in mammals, including reproduction, cardiovascular protection, bone integrity, cellular homeostasis, and behavior. E...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystem (from WikiPathways)
      GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Gap junction, organism-specific biosystem (from KEGG)
      Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
    • Gap junction, conserved biosystem (from KEGG)
      Gap junction, conserved biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Hypothetical Network for Drug Addiction, organism-specific biosystem (from WikiPathways)
      Hypothetical Network for Drug Addiction, organism-specific biosystemAdapted from figure 2 in [http://www.ploscompbiol.org/article/info:doi/10.1371/journal.pcbi.0040002 Li et al.].
    • Long-term depression, organism-specific biosystem (from KEGG)
      Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term depression, conserved biosystem (from KEGG)
      Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term potentiation, organism-specific biosystem (from KEGG)
      Long-term potentiation, organism-specific biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • Long-term potentiation, conserved biosystem (from KEGG)
      Long-term potentiation, conserved biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    glutamate receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    activation of MAPK activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    activation of MAPKK activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
    		  
    sensory perception of pain IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    metabotropic glutamate receptor 1
    Names
    metabotropic glutamate receptor 1

    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

    1. NG_012839.1 RefSeqGene

      Range
      5001..414953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278064.1 → NP_001264993.1  metabotropic glutamate receptor 1 isoform alpha precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (alpha).
      Source sequence(s)
      AB208837, BC136280, L76627, L76631
      Consensus CDS
      CCDS5209.1
      Conserved Domains (5) summary
      cd06374
      Location:36 – 510
      Blast Score: 2427
      PBP1_mGluR_groupI; Ligand binding domain of the group I metabotropic glutamate receptor
      pfam10606
      Location:1144 – 1194
      Blast Score: 149
      GluR_Homer-bdg; Homer-binding domain of metabotropic glutamate receptor
      pfam00003
      Location:617 – 838
      Blast Score: 685
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:77 – 485
      Blast Score: 628
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:521 – 571
      Blast Score: 210
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    2. NM_001278065.1 → NP_001264994.1  metabotropic glutamate receptor 1 isoform beta precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region, compared to variant 3. The encoded isoform (beta) is shorter and contains a distinct C-terminus, compared to isoform alpha. Isoform beta has a different subcellular distribution than isoform alpha and may be functionally distinct due to differential G-protein coupling of its novel C-terminal sequence (PMID: 9076744). Variants 4 and 5 encode the same isoform.
      Source sequence(s)
      AB208837, L76627, L76631
      Consensus CDS
      CCDS47497.1
      Conserved Domains (4) summary
      cd06374
      Location:36 – 510
      Blast Score: 2426
      PBP1_mGluR_groupI; Ligand binding domain of the group I metabotropic glutamate receptor
      pfam00003
      Location:617 – 838
      Blast Score: 656
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:77 – 485
      Blast Score: 623
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:521 – 571
      Blast Score: 206
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    3. NM_001278066.1 → NP_001264995.1  metabotropic glutamate receptor 1 isoform beta precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon in the 3' coding region and uses an alternate splice site in the 3'-terminal exon, compared to variant 3. The encoded isoform (beta) is shorter and contains a distinct C-terminus, compared to isoform alpha. Isoform beta has a different subcellular distribution than isoform alpha and may be functionally distinct due to differential G-protein coupling of its novel C-terminal sequence (PMID: 9076744). Variants 4 and 5 encode the same isoform.
      Source sequence(s)
      AB208837, BC143777, L76627, L76631
      Conserved Domains (4) summary
      cd06374
      Location:36 – 510
      Blast Score: 2426
      PBP1_mGluR_groupI; Ligand binding domain of the group I metabotropic glutamate receptor
      pfam00003
      Location:617 – 838
      Blast Score: 656
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:77 – 485
      Blast Score: 623
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:521 – 571
      Blast Score: 206
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    4. NM_001278067.1 → NP_001264996.1  metabotropic glutamate receptor 1 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 3. The encoded isoform (d) is shorter and contains a distinct C-terminus, compared to isoform alpha. Isoform d may have a distinct function compared to isoform alpha (PMID: 9776379).
      Source sequence(s)
      AB208837, BC143779, L76627, L76631
      Conserved Domains (4) summary
      cd06374
      Location:36 – 510
      Blast Score: 2428
      PBP1_mGluR_groupI; Ligand binding domain of the group I metabotropic glutamate receptor
      pfam00003
      Location:617 – 838
      Blast Score: 662
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:77 – 485
      Blast Score: 622
      ANF_receptor; Receptor family ligand binding region
      pfam07562
      Location:521 – 571
      Blast Score: 208
      NCD3G; Nine Cysteines Domain of family 3 GPCR

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p10 Primary Assembly

      Range
      146348782..146758731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      143912005..144322102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018917.1 Alternate CHM1_1.0

      Range
      146347330..146757269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_000838.3: Suppressed sequence

      Description
      NM_000838.3: This RefSeq was based on transcripts that have no full-length support, compared to the NM_001278064.1, which is also valid for CCDS5209.1. Therefore, NM_001114329.1 is suppressed, but the CCDS ID is retained for the other variant.

    2. NM_001114329.1: Suppressed sequence

      Description
      NM_001114329.1: This RefSeq was based on transcripts that have no full-length support, compared to NM_001278065.1, which is also valid for CCDS47497.1. Therefore, NM_001114329.1 is suppressed, but the CCDS ID is retained for the other variant.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01025722.1 (13404..114605) None
    genomic ABBA01025723.1 None
    genomic ABBA01025724.1 None
    genomic ABBA01025725.1 None
    genomic AL031769.1 None
    genomic AL035698.12 (101..135217) None
    genomic AL096867.15 None
    genomic AL592423.8 (2001..53728) None
    genomic AMYH01016727.1 (430676..840615) None
    genomic CH471051.2 EAW47834.1
      EAW47835.1
    mRNA AB208837.1 BAD92074.1
    mRNA AK308550.1 None
    mRNA BC136280.1 AAI36281.1
    mRNA BC143777.1 None
    mRNA BC143779.1 None
    mRNA L76627.1 AAB05337.1
    mRNA L76631.1 AAB05338.1
    mRNA U31215.1 AAA87843.1
    mRNA U31216.1 AAA87844.1
    other-genetic BC111844.2 AAI11845.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13255.3 GenPept UniProtKB/Swiss-Prot:Q13255

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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