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    CLU clusterin [ Homo sapiens (human) ]

    Gene ID: 1191, updated on 22-Sep-2016
    Official Symbol
    CLUprovided by HGNC
    Official Full Name
    clusterinprovided by HGNC
    Primary source
    HGNC:HGNC:2095
    See related
    Ensembl:ENSG00000120885 HPRD:01706; MIM:185430; Vega:OTTHUMG00000102114
    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
    CLI; AAG4; APOJ; CLU1; CLU2; KUB1; SGP2; APO-J; SGP-2; SP-40; TRPM2; TRPM-2; NA1/NA2
    Summary
    The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]
    Orthologs
    Location:
    8p21-p12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (27596917..27616717, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27454434..27472328, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 2 subunit Neighboring gene epoxide hydrolase 2 Neighboring gene gulonolactone (L-) oxidase, pseudogene Neighboring gene microRNA 6843 Neighboring gene scavenger receptor class A member 3 Neighboring gene RNA, U6 small nuclear 1086, pseudogene Neighboring gene microRNA 3622b Neighboring gene microRNA 3622a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study of panic disorder in the Japanese population.
    NHGRI GWA Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    NHGRI GWA Catalog
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement cascade, organism-specific biosystem (from REACTOME)
      Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Terminal pathway of complement, organism-specific biosystem (from REACTOME)
      Terminal pathway of complement, organism-specific biosystemAfter cleavage of C5, C5b undergoes conformational changes and exposes a binding site for C6. C5b6 binds C7 resulting in the exposure of membrane binding sites and incorporation into target membranes...
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC24903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    misfolded protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    misfolded protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    central nervous system myelin maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chaperone-mediated protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    complement activation TAS
    Traceable Author Statement
    more info
    PubMed 
    complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    microglial cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microglial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of beta-amyloid formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein homooligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of beta-amyloid formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neurofibrillary tangle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neuron death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of nitric oxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tau-protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of beta-amyloid clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of neuron death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuronal signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of cytochrome c from mitochondria IC
    Inferred by Curator
    more info
    PubMed 
    response to misfolded protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    reverse cholesterol transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apical dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromaffin granule IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurofibrillary tangle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spherical high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    clusterin
    Names
    aging-associated protein 4
    apolipoprotein J
    complement cytolysis inhibitor
    complement lysis inhibitor
    complement-associated protein SP-40,40
    ku70-binding protein 1
    sulfated glycoprotein 2
    testosterone-repressed prostate message 2

    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_027845.1 RefSeqGene

      Range
      5000..22894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001831.3NP_001822.3  clusterin preproprotein

      See identical proteins and their annotated locations for NP_001822.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AF311103, BC010514, BM682289, DN990822
      Consensus CDS
      CCDS47832.1
      UniProtKB/Swiss-Prot
      P10909
      Related
      ENSP00000315130, OTTHUMP00000128311, ENST00000316403, OTTHUMT00000219953
      Conserved Domains (3) summary
      smart00030
      Location:23227
      CLb; CLUSTERIN Beta chain
      smart00035
      Location:228443
      CLa; CLUSTERIN alpha chain
      pfam01093
      Location:30445
      Clusterin; Clusterin

    RNA

    1. NR_038335.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF311103, BM682289, M25915
    2. NR_045494.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF311103, BC019588, BM682289, BP193735, EB385800

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      27596917..27616717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716284.2XP_006716347.1  

      See identical proteins and their annotated locations for XP_006716347.1

      UniProtKB/Swiss-Prot
      P10909
      Conserved Domains (3) summary
      smart00030
      Location:75279
      CLb; CLUSTERIN Beta chain
      smart00035
      Location:280495
      CLa; CLUSTERIN alpha chain
      pfam01093
      Location:82497
      Clusterin; Clusterin

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      27656307..27674217 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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