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PFDN5 prefoldin subunit 5 [ Homo sapiens (human) ]

Gene ID: 5204, updated on 12-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
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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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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)

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

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