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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
  • RNA Polymerase II-Associated Factor 1 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 Vulvitis. Among its related pathways are Metabolism of proteins and Formation of HIV elongation complex in the absence of HIV Tat. 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

Enhancers for PAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F039362 0.2 ENCODE 12.4 +27.7 27672 3.0 KLF1 ZSCAN18 KLF17 EBF1 ZIC2 GLIS1 ZNF747 FOS ZNF785 MED29 PAF1 EID2B PSMC4 SAMD4B RPS16 RN7SL566P GC19P039349
GH19F039397 1.3 FANTOM5 ENCODE 4.7 -15.9 -15880 20.0 MLX CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 FBL ZFP36 RPS16 RN7SL566P EID2B ENSG00000269688 SUPT5H ENSG00000205041 ENSG00000269069 EID2
GH19F039427 0.8 FANTOM5 ENCODE 3.6 -41.0 -41021 9.6 CREB3L1 MLX ZFP64 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 NFYC RPS16 FBL ENSG00000205041 ENSG00000269069 ENSG00000269792 LOC105372399 ENSG00000269188 ENSG00000269172 LGALS14 ENSG00000267375
GH19F039557 1.3 FANTOM5 Ensembl ENCODE 2.4 -167.2 -167229 2.1 HDGF SIX4 IRF2 PKNOX1 SAP130 ARID4B FEZF1 GATA3 ZNF366 ZNF169 PLEKHG2 EID2B CLC DLL3 LEUTX MED29 LGALS4 RPS16 PAF1 ZFP36
GH19F039551 1.4 FANTOM5 Ensembl ENCODE 2.2 -161.0 -161028 1.6 CTCF ZNF384 ZNF2 RAD21 ZNF324 GATA3 SCRT2 ZNF143 SMC3 ZNF362 PLEKHG2 ZFP36 DLL3 TIMM50 RPS16 MED29 PAF1 EID2 LOC105372399 ENSG00000269188
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PAF1 on UCSC Golden Path with GeneCards custom track

Promoters for PAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000346467 -5 2001 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

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

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)
  • Abcam antibodies for 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:0000993 RNA polymerase II core binding IDA 15923622
GO:0003682 chromatin binding IEA --
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

Clone Products

  • Addgene plasmids for PAF1

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:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 22046413
GO:0016020 membrane IDA 22046413
GO:0016593 Cdc73/Paf1 complex IEA,IDA 16307923
genes like me logo Genes that share ontologies with PAF1: view

Pathways & Interactions for PAF1 Gene

genes like me logo Genes that share pathways with PAF1: view

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006368 transcription elongation from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with PAF1: view

No data available for SIGNOR curated interactions for PAF1 Gene

Transcripts for PAF1 Gene

Unigene Clusters for PAF1 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAF1

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, MaxQB, and MOPED for PAF1 Gene



Protein tissue co-expression partners for PAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAF1 Gene:

PAF1

SOURCE GeneReport for Unigene cluster for PAF1 Gene:

Hs.466714
genes like me logo Genes that share expression patterns with PAF1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PAF1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paf1 34 16 35
  • 90.29 (n)
rat
(Rattus norvegicus)
Mammalia Paf1 34
  • 90.1 (n)
dog
(Canis familiaris)
Mammalia PAF1 34 35
  • 89.71 (n)
cow
(Bos Taurus)
Mammalia PAF1 34 35
  • 89.39 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PAF1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAF1 34 35
  • 80.65 (n)
lizard
(Anolis carolinensis)
Reptilia PAF1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia paf1 34
  • 75.5 (n)
MGC76249 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29705 34
zebrafish
(Danio rerio)
Actinopterygii paf1 34 35
  • 77.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001302 34
  • 63.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta atms 34 35
  • 62.58 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C55A6.9 34
  • 47.97 (n)
C55A6.9 35
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.283 34
Species where no ortholog for PAF1 was found in the sources mined by GeneCards:
  • 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

Sequence variations from dbSNP and Humsavar for PAF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10422634 -- 39,389,442(+) CCCAC(C/G)TGAGC intron-variant, upstream-variant-2KB
rs111227399 -- 39,388,668(+) CATCC(A/G)TCATG intron-variant, nc-transcript-variant, reference, missense
rs111335279 -- 39,386,807(+) GCAGG(A/G)GGTGA intron-variant
rs111410018 -- 39,389,133(+) CTGTG(A/G)TCTGG intron-variant, nc-transcript-variant, reference, missense
rs111562975 -- 39,391,386(+) AGACG(C/G/T)AGTCG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv25791 CNV gain 19812545

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAF1 Gene

Disorders for PAF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
vulvitis
- 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 22 64
  2. Structural insights into Paf1 complex assembly and histone binding. (PMID: 24038468) Chu X. … Long J. (Nucleic Acids Res. 2013) 2 3 64
  3. Suppression of the antiviral response by an influenza histone mimic. (PMID: 22419161) Marazzi I. … Tarakhovsky A. (Nature 2012) 3 4 64
  4. Transcriptional activators enhance polyadenylation of mRNA precursors. (PMID: 21329879) Nagaike T. … Manley J.L. (Mol. Cell 2011) 3 4 64
  5. The PAF complex synergizes with MLL fusion proteins at HOX loci to promote leukemogenesis. (PMID: 20541477) Muntean A.G. … Hess J.L. (Cancer Cell 2010) 3 4 64

Products for PAF1 Gene

Sources for PAF1 Gene

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