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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
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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 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. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216

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)

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 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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