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    PFDN1 prefoldin subunit 1 [ Homo sapiens (human) ]

    Gene ID: 5201, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PFDN1provided by HGNC
    Official Full Name
    prefoldin subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:8866
    See related
    Ensembl:ENSG00000113068 MIM:604897; AllianceGenome:HGNC:8866
    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
    PDF; PFD1
    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 heart (RPKM 19.4), fat (RPKM 19.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PFDN1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140245035..140303101, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (140770478..140828531, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139624620..139682686, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901086 Neighboring gene uncharacterized LOC101929719 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:139549390-139549585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16446 Neighboring gene cysteine rich transmembrane module containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139618811-139619649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139620488-139621326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139621327-139622163 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:139638840-139640039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139654428-139654928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139654929-139655429 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:139678515-139679031 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:139682591-139682795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23267 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:139702306-139703505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16448 Neighboring gene heparin binding EGF like growth factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:139742660-139743205 Neighboring gene solute carrier family 4 member 9 Neighboring gene ANKHD1 divergent transcript

    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. Proteomic study of human umbilical vein endothelial cells in culture. Bruneel A, et al. Proteomics, 2003 May. PMID 12748950
    2. PFDN1, an indicator for colorectal cancer prognosis, enhances tumor cell proliferation and motility through cytoskeletal reorganization. Wang P, et al. Med Oncol, 2015 Dec. PMID 26553318
    3. A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. Horrigan SK, et al. Genomics, 1999 Apr 1. PMID 10191080
    4. Molecular chaperones in the cytosol: from nascent chain to folded protein. Hartl FU, et al. Science, 2002 Mar 8. PMID 11884745
    5. Prefoldin 1 promotes EMT and lung cancer progression by suppressing cyclin A expression. Wang D, et al. Oncogene, 2017 Feb 16. PMID 27694898, Free PMC Article

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prefoldin and prefoldin-like complex subunits as predictive biomarkers for hepatocellular carcinoma immunotherapy.
      Title: Prefoldin and prefoldin-like complex subunits as predictive biomarkers for hepatocellular carcinoma immunotherapy.
    2. Genome-wide significant (GWS) associations in single-nucleotide polymorphism (SNP)-based tests (P < 5 x 10(-8)) were identified for SNPs in PFDN1/HBEGF, USP6NL/ECHDC3, and BZRAP1-AS1.
      Title: Transethnic genome-wide scan identifies novel Alzheimer's disease loci.
    3. High PFDN1 expression is associated with lung cancer progression.
      Title: Prefoldin 1 promotes EMT and lung cancer progression by suppressing cyclin A expression.
    4. Studied PFDN1 as prognosis indicator for colorectal cancer and investigated the functions of PFDN1 in colorectal cancer.
      Title: PFDN1, an indicator for colorectal cancer prognosis, enhances tumor cell proliferation and motility through cytoskeletal reorganization.
    5. antagonistic actions of PhLP3 and prefoldin serve to modulate CCT activity and play a key role in establishing a functional cytoskeleton in vivo
      Title: PhLP3 modulates CCT-mediated actin and tubulin folding via ternary complexes with substrates.
    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

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein folding chaperone IPI
    Inferred from Physical Interaction
    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 
    Component Evidence Code Pubs
    is_active_in cytoplasm 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 1
    Names
    prefoldin 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_002622.5 → NP_002613.2  prefoldin subunit 1

      See identical proteins and their annotated locations for NP_002613.2

      Status: REVIEWED

      Source sequence(s)
      AA910992, AC011380, BG707314
      Consensus CDS
      CCDS4222.1
      UniProtKB/Swiss-Prot
      B2RD02, O60925, Q53F95, Q96EX6
      UniProtKB/TrEMBL
      E5RGS4
      Related
      ENSP00000261813.4, ENST00000261813.9
      Conserved Domains (1) summary
      pfam01920
      Location:17 → 117
      Prefoldin_2; Prefoldin subunit

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140245035..140303101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268465.5 → XP_005268522.1  prefoldin subunit 1 isoform X1

      UniProtKB/TrEMBL
      E5RGS4
      Conserved Domains (1) summary
      pfam01920
      Location:14 → 100
      Prefoldin_2; Prefoldin subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      140770478..140828531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352822.1 → XP_054208797.1  prefoldin subunit 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60925.2 GenPept UniProtKB/Swiss-Prot:O60925

    Gene LinkOut

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

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