CLU clusterin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 8p21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (27596917..27614700, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (27874264..27892057, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (27454434..27472217, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clusterin: a marker and mediator of chemoresistance in colorectal cancer.
Title: Clusterin: a marker and mediator of chemoresistance in colorectal cancer.
Clusterin protects mature dendritic cells from reactive oxygen species mediated cell death.
Title: Clusterin protects mature dendritic cells from reactive oxygen species mediated cell death.
Role of clusterin gene 3'-UTR polymorphisms and promoter hypomethylation in the pathogenesis of pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Title: Role of clusterin gene 3'-UTR polymorphisms and promoter hypomethylation in the pathogenesis of pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Differential Sperm Proteomics Reveals the Significance of Fatty Acid Synthase and Clusterin in Idiopathic Recurrent Pregnancy Loss.
Title: Differential Sperm Proteomics Reveals the Significance of Fatty Acid Synthase and Clusterin in Idiopathic Recurrent Pregnancy Loss.
Elevated ApoE, ApoJ and lipoprotein-bound alpha-synuclein levels in cerebrospinal fluid from Parkinson's disease patients - Validation in the BioFIND cohort.
Title: Elevated ApoE, ApoJ and lipoprotein-bound α-synuclein levels in cerebrospinal fluid from Parkinson's disease patients - Validation in the BioFIND cohort.
Astrocytic response mediated by the CLU risk allele inhibits OPC proliferation and myelination in a human iPSC model.
Title: Astrocytic response mediated by the CLU risk allele inhibits OPC proliferation and myelination in a human iPSC model.
Regulation of psoriasis, colitis, and the intestinal microbiota by clusterin.
Title: Regulation of psoriasis, colitis, and the intestinal microbiota by clusterin.
Clusterin Is a Prognostic Biomarker of Lower-Grade Gliomas and Is Associated with Immune Cell Infiltration.
Title: Clusterin Is a Prognostic Biomarker of Lower-Grade Gliomas and Is Associated with Immune Cell Infiltration.
The Ins and Outs of Clusterin: Its Role in Cancer, Eye Diseases and Wound Healing.
Title: The Ins and Outs of Clusterin: Its Role in Cancer, Eye Diseases and Wound Healing.
GABAergic signaling abnormalities in a novel CLU mutation Alzheimer's disease mouse model.
Title: GABAergic signaling abnormalities in a novel CLU mutation Alzheimer's disease mouse model.

Submit: New GeneRIF Correction See all GeneRIFs (476)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310777P3 (e-PCR)
- UniSTS:272687

RH11712 (e-PCR)
- UniSTS:40847

RH27907 (e-PCR)
- UniSTS:92609

STS-J02908 (e-PCR)
- UniSTS:53470

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-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 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 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 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	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 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 more info	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 more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	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 more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
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 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

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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)

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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

NG_027845.1 RefSeqGene

Range

5111..22894

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001831.4 → NP_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:30 → 445

Clusterin

RNA

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
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