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    PFDN5 prefoldin subunit 5 [ Homo sapiens (human) ]

    Gene ID: 5204, updated on 7-Nov-2024

    Summary

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    Official Symbol
    PFDN5provided by HGNC
    Official Full Name
    prefoldin subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:8869
    See related
    Ensembl:ENSG00000123349 MIM:604899; AllianceGenome:HGNC:8869
    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
    MM1; MM-1; PFD5
    Summary
    This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 223.5), thyroid (RPKM 192.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PFDN5 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53295542..53299450)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53261253..53265162)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53689326..53693234)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53645725-53646396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6406 Neighboring gene major facilitator superfamily domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6408 Neighboring gene extra spindle pole bodies like 1, separase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670028-53670528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53670529-53671029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53684247-53684748 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:53689034-53690233 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:53692451-53693650 Neighboring gene MYG1 exonuclease Neighboring gene aladin WD repeat nucleoporin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6415

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Prefoldin protects neuronal cells from polyglutamine toxicity by preventing aggregation formation. Tashiro E, et al. J Biol Chem, 2013 Jul 5. PMID 23720755, Free PMC Article
    2. MM-1, a novel c-Myc-associating protein that represses transcriptional activity of c-Myc. Mori K, et al. J Biol Chem, 1998 Nov 6. PMID 9792694
    3. Hepatitis C virus ARFP/F protein interacts with cellular MM-1 protein and enhances the gene trans-activation activity of c-Myc. Ma HC, et al. J Biomed Sci, 2008 Jul. PMID 18398700
    4. Distinct localizations and repression activities of MM-1 isoforms toward c-Myc. Hagio Y, et al. J Cell Biochem, 2006 Jan 1. PMID 16173081
    5. MM-1, a c-Myc-binding protein, is a candidate for a tumor suppressor in leukemia/lymphoma and tongue cancer. Fujioka Y, et al. J Biol Chem, 2001 Nov 30. PMID 11567024

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PFDN5 plays a dual role in breast cancer and regulates tumor immune microenvironment: Insights from integrated bioinformatics analysis and experimental validation.
      Title: PFDN5 plays a dual role in breast cancer and regulates tumor immune microenvironment: Insights from integrated bioinformatics analysis and experimental validation.
    2. Lysine demethylase 5C inhibits transcription of prefoldin subunit 5 to activate c-Myc signal transduction and colorectal cancer progression.
      Title: Lysine demethylase 5C inhibits transcription of prefoldin subunit 5 to activate c-Myc signal transduction and colorectal cancer progression.
    3. Physical interaction of p73 with c-Myc and MM1, a c-Myc-binding protein, and modulation of the p73 function.
      Title: Physical interaction of p73 with c-Myc and MM1, a c-Myc-binding protein, and modulation of the p73 function.
    4. Results from a study on gene expression variability markers in early-stage human embryos shows that PFDN5 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    5. knockdown of PFD2 and PFD5 disrupted prefoldin formation in HTT-expressing cells, resulting in accumulation of aggregates of a pathogenic form of HTT and in induction of cell death.
      Title: Prefoldin protects neuronal cells from polyglutamine toxicity by preventing aggregation formation.
    6. Rabring7 stimulates c-Myc degradation via mono-ubiquitination of MM-1
      Title: Rabring7 degrades c-Myc through complex formation with MM-1.
    7. MM-1, a c-Myc interacting protein, interacts with HCV ARFP/F protein, which can result in the enhancement of the c-Myc activity.
      Title: Hepatitis C virus ARFP/F protein interacts with cellular MM-1 protein and enhances the gene trans-activation activity of c-Myc.
    8. Wnt4 gene, a member of the Wnt-beta-catenin pathway, was identified as a target gene of MM-1.
      Title: Negative regulation of the Wnt signal by MM-1 through inhibiting expression of the wnt4 gene.
    9. MM-1alpha, MM-1gamma, and MM-1gamma, but not MM-1beta, were found to repress transcription activity of c-Myc
      Title: Distinct localizations and repression activities of MM-1 isoforms toward c-Myc.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC5329, MGC71907

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA polymerase I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in RNA polymerase II core complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in RNA polymerase III assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chaperone-mediated protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of prefoldin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of prefoldin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of prefoldin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    prefoldin subunit 5
    Names
    c-myc binding protein
    myc modulator-1

    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

    1. NG_029695.1 RefSeqGene

      Range
      5092..9000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002624.4 → NP_002615.2  prefoldin subunit 5 isoform alpha

      See identical proteins and their annotated locations for NP_002615.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (alpha).
      Source sequence(s)
      AB055803, AB055805
      Consensus CDS
      CCDS8853.1
      UniProtKB/Swiss-Prot
      A8K9A8, Q54AA8, Q99471, Q9C083, Q9C084
      UniProtKB/TrEMBL
      H3BPF6
      Related
      ENSP00000334188.4, ENST00000334478.9
      Conserved Domains (1) summary
      TIGR00293
      Location:12 → 138
      TIGR00293; prefoldin, archaeal alpha subunit/eukaryotic subunit 5

    2. NM_145897.3 → NP_665904.1  prefoldin subunit 5 isoform gamma

      See identical proteins and their annotated locations for NP_665904.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the coding region but maintains the reading frame, compared to variant 1. The encoded protein (isoform gamma) is shorter than isoform alpha.
      Source sequence(s)
      AB055805
      Consensus CDS
      CCDS8854.1
      UniProtKB/Swiss-Prot
      Q99471
      Related
      ENSP00000266964.4, ENST00000351500.7
      Conserved Domains (1) summary
      cl09111
      Location:24 → 93
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53295542..53299450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791795.1 Reference GRCh38.p14 PATCHES

      Range
      19302..23210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53261253..53265162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145896.2: Suppressed sequence

      Description
      NM_145896.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99471.2 GenPept UniProtKB/Swiss-Prot:Q99471

    Gene LinkOut

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

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