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Aliases for PAAF1 Gene

Aliases for PAAF1 Gene

  • Proteasomal ATPase Associated Factor 1 2 3 5
  • WD Repeat-Containing Protein 71 3 4
  • WD Repeat Domain 71 2 3
  • WDR71 3 4
  • Proteasomal ATPase-Associated Factor 1 3
  • Protein G-16 4
  • Rpn14 3
  • PAAF 3

External Ids for PAAF1 Gene

Previous HGNC Symbols for PAAF1 Gene

  • WDR71

Previous GeneCards Identifiers for PAAF1 Gene

  • GC11P073267
  • GC11P073588
  • GC11P069884

Summaries for PAAF1 Gene

Entrez Gene Summary for PAAF1 Gene

  • This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for PAAF1 Gene

PAAF1 (Proteasomal ATPase Associated Factor 1) is a Protein Coding gene. Diseases associated with PAAF1 include Bladder Leiomyoma and Bladder Benign Neoplasm.

UniProtKB/Swiss-Prot for PAAF1 Gene

  • Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation.

Gene Wiki entry for PAAF1 Gene

Additional gene information for PAAF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAAF1 Gene

Genomics for PAAF1 Gene

GeneHancer (GH) Regulatory Elements for PAAF1 Gene

Promoters and enhancers for PAAF1 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
GH11I073872 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -1.7 -1745 5.9 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 COA4 PAAF1 MRPL48 POLD3 RNF169 PLEKHB1 FAM168A CCDC58P5
GH11I073138 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -734.2 -734231 7.4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MCM3 FCHSD2 ARPC3P4 FAM168A PAAF1 ENSG00000257038 ARAP1 RELT ATG16L2 STARD10 PDE2A
GH11I074169 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.8 +294.8 294761 3.5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A YBX1 DMAP1 PPME1 C2CD3 GC11P074171 POLD3 ENSG00000206913 RNF169 P4HA3 PAAF1 RN7SL239P
GH11I073757 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.4 -117.0 -116995 4.6 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 RAB6A ENSG00000256034 MRPL48 POLD3 ENSG00000206913 ENSG00000255928 COA4 PAAF1 RNF169 PLEKHB1
GH11I073907 Enhancer 0.6 Ensembl 33 +30.8 30802 0.2 FOSL1 CTCF PKNOX1 POLR2A CEBPG FOS ZBTB33 ZIC2 PAAF1 COA4 MRPL48 PIR59200 GC11P073901 ARPC3P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PAAF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAAF1 gene promoter:

Genomic Locations for PAAF1 Gene

Genomic Locations for PAAF1 Gene
chr11:73,876,699-73,931,124
(GRCh38/hg38)
Size:
54,426 bases
Orientation:
Plus strand
chr11:73,587,744-73,638,790
(GRCh37/hg19)

Genomic View for PAAF1 Gene

Genes around PAAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAAF1 Gene

Proteins for PAAF1 Gene

  • Protein details for PAAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRP4-PAAF1_HUMAN
    Recommended name:
    Proteasomal ATPase-associated factor 1
    Protein Accession:
    Q9BRP4
    Secondary Accessions:
    • A6NDR5
    • B4DPB0
    • B7ZAS9
    • Q4G165
    • Q53HS9
    • Q7Z500
    • Q8TBU6
    • Q9HAB6

    Protein attributes for PAAF1 Gene

    Size:
    392 amino acids
    Molecular mass:
    42190 Da
    Quaternary structure:
    • Interacts with PSMC1, PSMC2, PSMC3, PSMC4, PSMC5 and PSMC6. Interacts with HIV-1 Tat. Interacts with SUPT6H.

    Alternative splice isoforms for PAAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAAF1 Gene

Post-translational modifications for PAAF1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PAAF1 Gene

Domains & Families for PAAF1 Gene

Gene Families for PAAF1 Gene

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

Suggested Antigen Peptide Sequences for PAAF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BRP4

UniProtKB/Swiss-Prot:

PAAF1_HUMAN :
  • Belongs to the WD repeat PAAF1/RPN14 family.
Family:
  • Belongs to the WD repeat PAAF1/RPN14 family.
genes like me logo Genes that share domains with PAAF1: view

Function for PAAF1 Gene

Molecular function for PAAF1 Gene

UniProtKB/Swiss-Prot Function:
Inhibits proteasome 26S assembly and proteolytic activity by impairing the association of the 19S regulatory complex with the 20S core. In case of HIV-1 infection, recruited by viral Tat to the HIV-1 promoter, where it promotes the recruitment of 19S regulatory complex through dissociation of the proteasome 26S. This presumably promotes provirus transcription efficiency. Protects SUPT6H from proteasomal degradation.

Phenotypes From GWAS Catalog for PAAF1 Gene

Gene Ontology (GO) - Molecular Function for PAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19490896
genes like me logo Genes that share ontologies with PAAF1: view

Phenotypes for PAAF1 Gene

genes like me logo Genes that share phenotypes with PAAF1: view

Animal Model Products

CRISPR Products

miRNA for PAAF1 Gene

miRTarBase miRNAs that target PAAF1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAAF1 Gene

Localization for PAAF1 Gene

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 PAAF1 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IDA 17323924
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PAAF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PAAF1 Gene

Pathways & Interactions for PAAF1 Gene

SuperPathways for PAAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PAAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with PAAF1: view

No data available for Pathways by source and SIGNOR curated interactions for PAAF1 Gene

Drugs & Compounds for PAAF1 Gene

No Compound Related Data Available

Transcripts for PAAF1 Gene

Unigene Clusters for PAAF1 Gene

Proteasomal ATPase-associated factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAAF1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5:
SP6: -

Relevant External Links for PAAF1 Gene

GeneLoc Exon Structure for
PAAF1
ECgene alternative splicing isoforms for
PAAF1

Expression for PAAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAAF1 Gene

Protein differential expression in normal tissues from HIPED for PAAF1 Gene

This gene is overexpressed in Ovary (11.3) and Peripheral blood mononuclear cells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAAF1 Gene



Protein tissue co-expression partners for PAAF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAAF1 Gene:

PAAF1

SOURCE GeneReport for Unigene cluster for PAAF1 Gene:

Hs.525017

mRNA Expression by UniProt/SwissProt for PAAF1 Gene:

Q9BRP4-PAAF1_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in kidney, brain and testis.

Evidence on tissue expression from TISSUES for PAAF1 Gene

  • Nervous system(4.6)
  • Kidney(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with PAAF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAAF1 Gene

Orthologs for PAAF1 Gene

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

Orthologs for PAAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAAF1 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia PAAF1 33 34
  • 93.96 (n)
-- 34
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PAAF1 33 34
  • 93.28 (n)
oppossum
(Monodelphis domestica)
Mammalia PAAF1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAAF1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAAF1 33 34
  • 76.45 (n)
lizard
(Anolis carolinensis)
Reptilia PAAF1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia thul16 33
  • 64.62 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y39G10AR.9 33
  • 42.15 (n)
Y39G10AR.9 34
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN14 36 34
  • 24 (a)
Species where no ortholog for PAAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for PAAF1 Gene

ENSEMBL:
Gene Tree for PAAF1 (if available)
TreeFam:
Gene Tree for PAAF1 (if available)

Paralogs for PAAF1 Gene

Pseudogenes.org Pseudogenes for PAAF1 Gene

genes like me logo Genes that share paralogs with PAAF1: view

No data available for Paralogs for PAAF1 Gene

Variants for PAAF1 Gene

Sequence variations from dbSNP and Humsavar for PAAF1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000192265 -- 73,900,621(+) A/G intron_variant
rs1000254941 -- 73,877,580(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000350842 -- 73,897,859(+) G/A intron_variant
rs1000362923 -- 73,912,346(+) C/G intron_variant
rs1000568787 -- 73,878,330(+) A/C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PAAF1 Gene

Variant ID Type Subtype PubMed ID
esv3626824 CNV gain 21293372
esv3626826 CNV loss 21293372
nsv1035977 CNV gain 25217958
nsv510946 OTHER complex 20534489
nsv975948 CNV duplication 23825009

Variation tolerance for PAAF1 Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.12; 84.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAAF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAAF1 Gene

Disorders for PAAF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PAAF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bladder leiomyoma
  • leiomyoma of the urinary bladder
bladder benign neoplasm
hyperhidrosis, gustatory
  • hyprg
- elite association - COSMIC cancer census association via MalaCards
Search PAAF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PAAF1

genes like me logo Genes that share disorders with PAAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAAF1 Gene

Publications for PAAF1 Gene

  1. Proteasomal ATPase-associated factor 1 negatively regulates proteasome activity by interacting with proteasomal ATPases. (PMID: 15831487) Park Y … Yoon JB (Molecular and cellular biology 2005) 2 3 4 22 58
  2. The proteasome regulates HIV-1 transcription by both proteolytic and nonproteolytic mechanisms. (PMID: 17289585) Lassot I … Kiernan RE (Molecular cell 2007) 2 3 4 58
  3. Spt6 levels are modulated by PAAF1 and proteasome to regulate the HIV-1 LTR. (PMID: 22316138) Nakamura M … Kiernan R (Retrovirology 2012) 3 4 58
  4. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X … Huang L (Biochemistry 2007) 3 4 58
  5. Lower expression of catalytic and structural subunits of the proteasome contributes to decreased proteolysis in peripheral blood T lymphocytes during aging. (PMID: 17317272) Ponnappan S … Ponnappan U (The international journal of biochemistry & cell biology 2007) 2 3 58

Products for PAAF1 Gene

Sources for PAAF1 Gene

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