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    CLU clusterin [ Homo sapiens (human) ]

    Gene ID: 1191, updated on 9-Dec-2024

    Summary

    Official Symbol
    CLUprovided by HGNC
    Official Full Name
    clusterinprovided by HGNC
    Primary source
    HGNC:HGNC:2095
    See related
    Ensembl:ENSG00000120885 MIM:185430; AllianceGenome:HGNC:2095
    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]
    Expression
    Broad expression in brain (RPKM 523.1), liver (RPKM 432.6) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CLU in Genome Data Viewer
    Location:
    8p21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (27596917..27614700, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (27874264..27892057, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27454434..27472217, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19049 Neighboring gene epoxide hydrolase 2 Neighboring gene MPRA-validated peak6969 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27412252-27412752 Neighboring gene Sharpr-MPRA regulatory region 1589 Neighboring gene uncharacterized LOC124901919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27450407-27450907 Neighboring gene gulonolactone (L-) oxidase, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27466546-27467252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27467959-27468666 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:27470630-27470815 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:27471849-27472348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27473305-27473805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27474096-27474852 Neighboring gene microRNA 6843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27491053-27491882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:27491883-27492711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27508580-27509080 Neighboring gene scavenger receptor class A member 3 Neighboring gene RNA, U6 small nuclear 1086, pseudogene Neighboring gene uncharacterized LOC124901921

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study of panic disorder in the Japanese population.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC24903

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables ATP hydrolysis activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables amyloid-beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables misfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables misfolded protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables misfolded protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein carrier chaperone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein heterodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tau protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables unfolded protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in central nervous system myelin maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chaperone-mediated protein complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chaperone-mediated protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in complement activation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune complex clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in microglial cell activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in microglial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of amyloid fibril formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of release of cytochrome c from mitochondria TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of amyloid fibril formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neurofibrillary tangle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting to lysosome involved in chaperone-mediated autophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of amyloid-beta clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of neuronal signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of cytochrome c from mitochondria IC
    Inferred by Curator
    more info
    PubMed 
    involved_in response to misfolded protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in reverse cholesterol transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in blood microparticle HDA PubMed 
    colocalizes_with cell periphery IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromaffin granule IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neurofibrillary tangle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of spherical high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    clusterin
    Names
    aging-associated protein 4
    apolipoprotein J
    complement cytolysis inhibitor
    complement lysis inhibitor
    complement-associated protein SP-40,40
    epididymis secretory sperm binding protein
    ku70-binding protein 1
    sulfated glycoprotein 2
    testosterone-repressed prostate message 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027845.1 RefSeqGene

      Range
      5111..22894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001831.4NP_001822.3  clusterin isoform 1 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
      B2R9Q1, B3KSE6, P10909, P11380, P11381, Q2TU75, Q5HYC1, Q7Z5B9
      UniProtKB/TrEMBL
      A0A384NKS6
      Related
      ENSP00000315130.10, ENST00000316403.15
      Conserved Domains (1) summary
      pfam01093
      Location:30445
      Clusterin

    RNA

    1. NR_038335.2 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
    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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      27596917..27614700 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      27874264..27892057 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)