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    PFDN4 prefoldin subunit 4 [ Homo sapiens (human) ]

    Gene ID: 5203, updated on 20-May-2024

    Summary

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    Official Symbol
    PFDN4provided by HGNC
    Official Full Name
    prefoldin subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:8868
    See related
    Ensembl:ENSG00000101132 MIM:604898; AllianceGenome:HGNC:8868
    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
    C1; PFD4
    Summary
    This gene encodes a member of the prefoldin beta 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. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 7.8), endometrium (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PFDN4 in Genome Data Viewer
    Location:
    20q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (54208087..54219961)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (55982176..55994287)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (52824626..52836500)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18140 Neighboring gene uncharacterized LOC124904937 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr20:52824023-52824840 and GRCh37_chr20:52824841-52825657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13055 Neighboring gene uncharacterized LOC107985385 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:52901007-52902206 Neighboring gene NANOG hESC enhancer GRCh37_chr20:52976162-52976663 Neighboring gene docking protein 5

    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
    • 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. Abnormal expression of PFDN4 in colorectal cancer: a novel marker for prognosis. Miyoshi N, et al. Ann Surg Oncol, 2010 Nov. PMID 20552408
    2. Comprehensive genome sequence analysis of a breast cancer amplicon. Collins C, et al. Genome Res, 2001 Jun. PMID 11381030, Free PMC Article
    3. Novel long noncoding RNAs upregulation may have synergistic effects on the CYP24A1 and PFDN4 biomarker role in human colorectal cancer. Sadeghi H, et al. J Cell Physiol, 2021 Mar. PMID 32743796
    4. Molecular chaperones in the cytosol: from nascent chain to folded protein. Hartl FU, et al. Science, 2002 Mar 8. PMID 11884745
    5. Cloning of cDNA with possible transcription factor activity at the G1-S phase transition in human fibroblast cell lines. Iijima M, et al. Acta Med Okayama, 1996 Apr. PMID 8744932

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PFDN4 as a Prognostic Marker Was Associated with Chemotherapy Resistance through CREBP1/AURKA Pathway in Triple-Negative Breast Cancer.
      Title: PFDN4 as a Prognostic Marker Was Associated with Chemotherapy Resistance through CREBP1/AURKA Pathway in Triple-Negative Breast Cancer.
    2. Novel long noncoding RNAs upregulation may have synergistic effects on the CYP24A1 and PFDN4 biomarker role in human colorectal cancer.
      Title: Novel long noncoding RNAs upregulation may have synergistic effects on the CYP24A1 and PFDN4 biomarker role in human colorectal cancer.
    3. PFDN4 inhibition resulted in an increase in cell growth and invasiveness in colorectal cancer cell lines.
      Title: Abnormal expression of PFDN4 in colorectal cancer: a novel marker for prognosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    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 protein-folding chaperone binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein folding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 4
    Names
    prefoldin 4
    protein C-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.

    mRNA and Protein(s)

    1. NM_002623.4 → NP_002614.2  prefoldin subunit 4

      See identical proteins and their annotated locations for NP_002614.2

      Status: REVIEWED

      Source sequence(s)
      AL133335, BC010953, U41816
      Consensus CDS
      CCDS13445.1
      UniProtKB/Swiss-Prot
      Q5TD11, Q92779, Q9NQP4
      UniProtKB/TrEMBL
      B2R548
      Related
      ENSP00000360473.2, ENST00000371419.7
      Conserved Domains (1) summary
      pfam01920
      Location:23 → 125
      Prefoldin_2; Prefoldin subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      54208087..54219961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440198.1 → XP_047296154.1  prefoldin subunit 4 isoform X1

    2. XM_047440199.1 → XP_047296155.1  prefoldin subunit 4 isoform X3

    3. XM_017027879.2 → XP_016883368.1  prefoldin subunit 4 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      55982176..55994287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323509.1 → XP_054179484.1  prefoldin subunit 4 isoform X3

    2. XM_054323507.1 → XP_054179482.1  prefoldin subunit 4 isoform X1

    3. XM_054323508.1 → XP_054179483.1  prefoldin subunit 4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQP4.1 GenPept UniProtKB/Swiss-Prot:Q9NQP4

    Gene LinkOut

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

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