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... See more...

Aliases for PFDN4 Gene

Aliases for PFDN4 Gene

  • Prefoldin Subunit 4 2 3 4 5
  • Protein C-1 3 4
  • Prefoldin 4 2 3
  • PFD4 3 4
  • C1 3

External Ids for PFDN4 Gene

Previous GeneCards Identifiers for PFDN4 Gene

  • GC20P052553
  • GC20P053463
  • GC20P053510
  • GC20P052258
  • GC20P052824
  • GC20P049571

Summaries for PFDN4 Gene

Entrez Gene Summary for PFDN4 Gene

  • 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]

GeneCards Summary for PFDN4 Gene

PFDN4 (Prefoldin Subunit 4) is a Protein Coding gene. Diseases associated with PFDN4 include Distal Arthrogryposis. Among its related pathways are Chaperonin-mediated protein folding and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and chaperone binding.

UniProtKB/Swiss-Prot Summary for PFDN4 Gene

  • Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.

Gene Wiki entry for PFDN4 Gene

Additional gene information for PFDN4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFDN4 Gene

Genomics for PFDN4 Gene

GeneHancer (GH) Regulatory Elements for PFDN4 Gene

Promoters and enhancers for PFDN4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J054207 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 238 2.8 EP300 FOXK2 CTCF SIN3A POLR2G SP1 NCOR1 BCLAF1 NONO PHF8 PFDN4 DOK5 ENSG00000286229
GH20J053607 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 -597.0 -597002 6.5 ZBTB40 ZSCAN5C TCF12 SP1 BCLAF1 JUND FOS CTCF ZNF639 ZNF10 ZNF217 lnc-ZNF217-5 PFDN4 RNU7-14P ENSG00000236352 ENSG00000235415 LOC105372672 piR-50443-245
GH20J054131 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 10.5 -74.4 -74434 4.1 EP300 FOXK2 ZSCAN5C TCF12 POLR2G NCOR1 JUND FOS ZFX KDM6A CYP24A1 PFDN4 lnc-CYP24A1-3 HSALNG0130972
GH20J054102 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.2 -102.5 -102547 6.7 EP300 FOXK2 CTCF ZSCAN5C TCF12 MYC POLR2G USF1 BCLAF1 NCOR1 CYP24A1 BCAS1 PFDN4 HSALNG0130972 lnc-CYP24A1-3
GH20J054109 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -97.6 -97613 1.7 TEAD1 FOXA2 NFXL1 JUND GATA3 BCLAF1 CHD4 RARA KDM1A NR2F6 CYP24A1 PFDN4 HSALNG0130972 lnc-CYP24A1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFDN4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFDN4

Top Transcription factor binding sites by QIAGEN in the PFDN4 gene promoter:
  • ATF-2
  • c-Jun
  • FOXD3
  • FOXL1
  • FOXO1
  • FOXO1a
  • FOXO4
  • HFH-1
  • Pax-6

Genomic Locations for PFDN4 Gene

Genomic Locations for PFDN4 Gene
chr20:54,207,963-54,228,052
(GRCh38/hg38)
Size:
20,090 bases
Orientation:
Plus strand
chr20:52,824,386-52,844,591
(GRCh37/hg19)
Size:
20,206 bases
Orientation:
Plus strand

Genomic View for PFDN4 Gene

Genes around PFDN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFDN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFDN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFDN4 Gene

Proteins for PFDN4 Gene

  • Protein details for PFDN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQP4-PFD4_HUMAN
    Recommended name:
    Prefoldin subunit 4
    Protein Accession:
    Q9NQP4
    Secondary Accessions:
    • Q5TD11
    • Q92779

    Protein attributes for PFDN4 Gene

    Size:
    134 amino acids
    Molecular mass:
    15314 Da
    Quaternary structure:
    • Heterohexamer of two PFD-alpha type and four PFD-beta type subunits. Interacts with URI1; the interaction is phosphorylation-dependent and occurs in a growth-dependent manner.

    Three dimensional structures from OCA and Proteopedia for PFDN4 Gene

neXtProt entry for PFDN4 Gene

Post-translational modifications for PFDN4 Gene

  • Ubiquitination at Lys7
  • Modification sites at PhosphoSitePlus

Other Protein References for PFDN4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PFDN4 Gene

Domains & Families for PFDN4 Gene

Gene Families for PFDN4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PFDN4 Gene

Blocks:
  • Prefoldin-related KE2 protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PFDN4 Gene

GenScript: Design optimal peptide antigens:
  • Protein C-1 (PFD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQP4

UniProtKB/Swiss-Prot:

PFD4_HUMAN :
  • Belongs to the prefoldin subunit beta family.
Family:
  • Belongs to the prefoldin subunit beta family.
genes like me logo Genes that share domains with PFDN4: view

Function for PFDN4 Gene

Molecular function for PFDN4 Gene

UniProtKB/Swiss-Prot Function:
Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins.

Phenotypes From GWAS Catalog for PFDN4 Gene

Gene Ontology (GO) - Molecular Function for PFDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17936702
GO:0051082 unfolded protein binding IEA --
GO:0051087 chaperone binding TAS 9630229
genes like me logo Genes that share ontologies with PFDN4: view
genes like me logo Genes that share phenotypes with PFDN4: view

Animal Model Products

CRISPR Products

miRNA for PFDN4 Gene

miRTarBase miRNAs that target PFDN4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFDN4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFDN4 Gene

Localization for PFDN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFDN4 Gene

Nucleus. Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFDN4 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PFDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17936702
GO:0005737 cytoplasm IBA,IDA 17936702
GO:0005739 mitochondrion IDA,IEA 17936702
GO:0005829 cytosol NAS 9630229
GO:0016272 prefoldin complex IBA,IEA 21873635
genes like me logo Genes that share ontologies with PFDN4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PFDN4 Gene

Pathways & Interactions for PFDN4 Gene

genes like me logo Genes that share pathways with PFDN4: view

SIGNOR curated interactions for PFDN4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PFDN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IEA,TAS 9630229
genes like me logo Genes that share ontologies with PFDN4: view

Drugs & Compounds for PFDN4 Gene

No Compound Related Data Available

Transcripts for PFDN4 Gene

mRNA/cDNA for PFDN4 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFDN4

Alternative Splicing Database (ASD) splice patterns (SP) for PFDN4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1:
SP2: - - - - -
SP3: - -
SP4: -

Relevant External Links for PFDN4 Gene

GeneLoc Exon Structure for
PFDN4

Expression for PFDN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PFDN4 Gene

Protein differential expression in normal tissues from HIPED for PFDN4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PFDN4 Gene



Protein tissue co-expression partners for PFDN4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PFDN4

SOURCE GeneReport for Unigene cluster for PFDN4 Gene:

Hs.91161
genes like me logo Genes that share expression patterns with PFDN4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFDN4 Gene

Orthologs for PFDN4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFDN4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFDN4 31 30
  • 98.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PFDN4 31 30
  • 95.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PFDN4 31 30
  • 91.98 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFDN4 31
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfdn4 17 31 30
  • 84.68 (n)
rat
(Rattus norvegicus)
Mammalia Pfdn4 30
  • 83.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFDN4 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFDN4 31 30
  • 81.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFDN4 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfdn4 30
  • 73.98 (n)
Str.11250 30
zebrafish
(Danio rerio)
Actinopterygii pfdn4 31 30
  • 70.43 (n)
OneToOne
Dr.14011 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12242 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006946 30
  • 53.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10635 31 30
  • 52.19 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pfd-4 31
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GIM3 33 31
  • 35 (a)
Species where no ortholog for PFDN4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFDN4 Gene

ENSEMBL:
Gene Tree for PFDN4 (if available)
TreeFam:
Gene Tree for PFDN4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PFDN4: view image

Paralogs for PFDN4 Gene

Pseudogenes.org Pseudogenes for PFDN4 Gene

genes like me logo Genes that share paralogs with PFDN4: view

No data available for Paralogs for PFDN4 Gene

Variants for PFDN4 Gene

Additional dbSNP identifiers (rs#s) for PFDN4 Gene

Structural Variations from Database of Genomic Variants (DGV) for PFDN4 Gene

Variant ID Type Subtype PubMed ID
nsv586224 CNV gain 21841781
nsv834010 CNV loss 17160897

Variation tolerance for PFDN4 Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFDN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFDN4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFDN4 Gene

Disorders for PFDN4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PFDN4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
distal arthrogryposis
  • freeman-sheldon syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PFDN4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PFDN4

genes like me logo Genes that share disorders with PFDN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFDN4 Gene

Publications for PFDN4 Gene

  1. Prefoldin, a chaperone that delivers unfolded proteins to cytosolic chaperonin. (PMID: 9630229) Vainberg IE … Cowan NJ (Cell 1998) 2 3 4 54
  2. Cloning of cDNA with possible transcription factor activity at the G1-S phase transition in human fibroblast cell lines. (PMID: 8744932) Iijima M … Namba M (Acta medica Okayama 1996) 2 3 4 54
  3. S6K1-mediated disassembly of mitochondrial URI/PP1gamma complexes activates a negative feedback program that counters S6K1 survival signaling. (PMID: 17936702) Djouder N … Krek W (Molecular cell 2007) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54

Products for PFDN4 Gene

Sources for PFDN4 Gene