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Aliases for PAF1 Gene

Aliases for PAF1 Gene

  • PAF1 Homolog, Paf1/RNA Polymerase II Complex Component 2 3 5
  • Pancreatic Differentiation Protein 2 3 4
  • PD2 3 4
  • Paf1, RNA Polymerase II Associated Factor, Homolog (S. Cerevisiae) 2
  • Paf1, RNA Polymerase II Associated Factor, Homolog 3
  • F23149_1 3
  • HPAF1 4

External Ids for PAF1 Gene

Previous GeneCards Identifiers for PAF1 Gene

  • GC19M044569
  • GC19M039876
  • GC19M036322

Summaries for PAF1 Gene

Entrez Gene Summary for PAF1 Gene

  • This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for PAF1 Gene

PAF1 (PAF1 Homolog, Paf1/RNA Polymerase II Complex Component) is a Protein Coding gene. Diseases associated with PAF1 include peroxisome biogenesis disorder 5a and peroxisome biogenesis disorder 5b. GO annotations related to this gene include chromatin binding and RNA polymerase II core binding.

UniProtKB/Swiss-Prot for PAF1 Gene

  • Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and Ser-2- and Ser-5-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 Lys-4 (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of Lys-120 of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3 end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAF1 Gene

Genomics for PAF1 Gene

Regulatory Elements for PAF1 Gene

Promoters for PAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAF1 Gene

Chromosome:
19
Start:
39,385,629 bp from pter
End:
39,391,195 bp from pter
Size:
5,567 bases
Orientation:
Minus strand

Genomic View for PAF1 Gene

Genes around PAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAF1 Gene

Proteins for PAF1 Gene

  • Protein details for PAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7H5-PAF1_HUMAN
    Recommended name:
    RNA polymerase II-associated factor 1 homolog
    Protein Accession:
    Q8N7H5
    Secondary Accessions:
    • M0QX35
    • O75239
    • Q9H166
    • Q9NUU9

    Protein attributes for PAF1 Gene

    Size:
    531 amino acids
    Molecular mass:
    59976 Da
    Quaternary structure:
    • Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61. Interacts with POLR2A, TCEA1, TTC37, KMT2A/MLL1, SUPT5H, RNF20 and RNF40. Interacts with UBE2E1. Interacts with influenza A strain H3N2 NS1 protein; the interaction interferes with host cell gene transcription, specifically with that of antiviral genes.
    SequenceCaution:
    • Sequence=AAC25503.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW56880.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW56881.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PAF1 Gene

    Alternative splice isoforms for PAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAF1 Gene

Proteomics data for PAF1 Gene at MOPED

Post-translational modifications for PAF1 Gene

  • Ubiquitination at Lys 290 and Lys 305
  • Modification sites at PhosphoSitePlus

Other Protein References for PAF1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAF1 (PAF1)

No data available for DME Specific Peptides for PAF1 Gene

Domains & Families for PAF1 Gene

Gene Families for PAF1 Gene

Protein Domains for PAF1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8N7H5

UniProtKB/Swiss-Prot:

PAF1_HUMAN :
  • Belongs to the PAF1 family.
Family:
  • Belongs to the PAF1 family.
genes like me logo Genes that share domains with PAF1: view

Function for PAF1 Gene

Molecular function for PAF1 Gene

UniProtKB/Swiss-Prot Function:
Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and Ser-2- and Ser-5-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 Lys-4 (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of Lys-120 of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3 end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro.

Gene Ontology (GO) - Molecular Function for PAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15923622
genes like me logo Genes that share ontologies with PAF1: view
genes like me logo Genes that share phenotypes with PAF1: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAF1 Gene

Localization for PAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAF1 Gene

Nucleus. Note=Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAF1 Gene COMPARTMENTS Subcellular localization image for PAF1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for PAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 22046413
GO:0016020 membrane IDA 22046413
genes like me logo Genes that share ontologies with PAF1: view

Pathways & Interactions for PAF1 Gene

SuperPathways for PAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001711 endodermal cell fate commitment ISS --
GO:0006368 transcription elongation from RNA polymerase II promoter IEA --
GO:0006378 mRNA polyadenylation IMP 21329879
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with PAF1: view

No data available for Pathways by source and SIGNOR curated interactions for PAF1 Gene

Drugs & Compounds for PAF1 Gene

No Compound Related Data Available

Transcripts for PAF1 Gene

Unigene Clusters for PAF1 Gene

Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAF1 Gene

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

Relevant External Links for PAF1 Gene

GeneLoc Exon Structure for
PAF1
ECgene alternative splicing isoforms for
PAF1

Expression for PAF1 Gene

mRNA expression in normal human tissues for PAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PAF1 Gene

This gene is overexpressed in Lung (27.4), CD8 Tcells (7.1), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PAF1 Gene



SOURCE GeneReport for Unigene cluster for PAF1 Gene Hs.466714

genes like me logo Genes that share expression patterns with PAF1: view

Protein tissue co-expression partners for PAF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PAF1 Gene

Orthologs for PAF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAF1 35
  • 89.39 (n)
  • 96.12 (a)
PAF1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAF1 35
  • 89.71 (n)
  • 96.48 (a)
PAF1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paf1 35
  • 90.29 (n)
  • 98.64 (a)
Paf1 16
Paf1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Paf1 35
  • 90.1 (n)
  • 98.25 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PAF1 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAF1 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAF1 35
  • 80.65 (n)
  • 89.86 (a)
PAF1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAF1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76249 35
paf1 35
  • 75.5 (n)
  • 84.54 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29705 35
zebrafish
(Danio rerio)
Actinopterygii paf1 35
  • 77.33 (n)
  • 84.12 (a)
paf1 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001302 35
  • 63.21 (n)
  • 62.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta atms 35
  • 62.58 (n)
  • 60.49 (a)
atms 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_C55A6.9 35
  • 47.97 (n)
  • 35.17 (a)
C55A6.9 36
  • 34 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.283 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for PAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 PAF1 Gene

ENSEMBL:
Gene Tree for PAF1 (if available)
TreeFam:
Gene Tree for PAF1 (if available)

Paralogs for PAF1 Gene

No data available for Paralogs for PAF1 Gene

Variants for PAF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAF1 Gene

Variant ID Type Subtype PubMed ID
nsv911679 CNV Loss 21882294
nsv911680 CNV Loss 21882294
esv25791 CNV Gain 19812545
dgv3860n71 CNV Loss 21882294

Variation tolerance for PAF1 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAF1 Gene

HapMap Linkage Disequilibrium report
PAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for PAF1 Gene

Disorders for PAF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PAF1 Gene - From: OMIM and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PAF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAF1
genes like me logo Genes that share disorders with PAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAF1 Gene

Publications for PAF1 Gene

  1. The human homologue of the RNA polymerase II-associated factor 1 (hPaf1), localized on the 19q13 amplicon, is associated with tumorigenesis. (PMID: 16491129) Moniaux N. … Batra S.K. (Oncogene 2006) 3 4 23 67
  2. Structural insights into Paf1 complex assembly and histone binding. (PMID: 24038468) Chu X. … Long J. (Nucleic Acids Res. 2013) 2 3
  3. The parafibromin tumor suppressor protein is part of a human Paf1 complex. (PMID: 15632063) Rozenblatt-Rosen O. … Meyerson M. (Mol. Cell. Biol. 2005) 2 3
  4. Transcriptional elongation factor ENL phosphorylated by ATM recruits polycomb and switches off transcription for DSB repair. (PMID: 25921070) Ui A. … Yasui A. (Mol. Cell 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for PAF1 Gene

Sources for PAF1 Gene

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