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This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010] See more...
Aliases for RTF1 Gene
Aliases for RTF1 Gene
- RTF1 Homolog, Paf1/RNA Polymerase II Complex Component 2 3 5
- KIAA0252 2 3 4
- RNA Polymerase-Associated Protein RTF1 Homolog 3 4
- Rtf1, Paf1/RNA Polymerase II Complex Component, Homolog (S. Cerevisiae) 2
- Rtf1, Paf1/RNA Polymerase II Complex Component, Homolog 3
- Ortholog Of Mouse Gene Trap Locus 7 3
- GTL7 3
- RTF1 5
External Ids for RTF1 Gene
- HGNC: 28996
- NCBI Entrez Gene: 23168
- Ensembl: ENSG00000137815
- OMIM®: 611633
- UniProtKB/Swiss-Prot: Q92541
Previous HGNC Symbols for RTF1 Gene
- KIAA0252
Previous GeneCards Identifiers for RTF1 Gene
- GC15P039497
- GC15P041709
- GC15P018557
- GC15P041409
- GC15P041410
- GC15P041427
Summaries for RTF1 Gene
-
This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]
GeneCards Summary for RTF1 Gene
RTF1 (RTF1 Homolog, Paf1/RNA Polymerase II Complex Component) is a Protein Coding gene. Diseases associated with RTF1 include Immunodeficiency 47 and Hereditary Wilms' Tumor. Among its related pathways are Metabolism of proteins and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include single-stranded DNA binding.
UniProtKB/Swiss-Prot Summary for RTF1 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 independently 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. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity).
Additional gene information for RTF1 Gene
- HGNC (28996)
- NCBI Entrez Gene (23168)
- Ensembl (ENSG00000137815)
- OMIM® (611633)
- UniProtKB/Swiss-Prot (Q92541)
- Open Targets Platform(ENSG00000137815)
- Monarch Initiative
- Search for RTF1 at DataMed
- Search for RTF1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RTF1 Gene
Genomics for RTF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RTF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RTF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RTF1
- Top Transcription factor binding sites by QIAGEN in the RTF1 gene promoter:
-
- E2F
- E2F-1
- GATA-1
- HOXA9
- HOXA9B
- Meis-1
- NF-1
- Nkx6-1
- p53
- SRY
Genomic Locations for RTF1 Gene
Latest Assembly
- chr15:41,408,408-41,483,563
- (GRCh38/hg38)
- Size:
- 75,156 bases
- Orientation:
- Plus strand
Previous Assembly
- chr15:41,709,302-41,775,761
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 66,460 bases
- Orientation:
- Plus strand
- chr15:41,700,606-41,775,761
- (GRCh37/hg19 by Ensembl)
- Size:
- 75,156 bases
- Orientation:
- Plus strand
Genomic View for RTF1 Gene
Genes around RTF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q15.1 by HGNC
- 15q15.1 by Entrez Gene
- 15q15.1 by Ensembl
RTF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RTF1 Gene
Proteins for RTF1 Gene
-
Protein details for RTF1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92541-RTF1_HUMAN
- Recommended name:
- RNA polymerase-associated protein RTF1 homolog
- Protein Accession:
- Q92541
- Q96BX6
Protein attributes for RTF1 Gene
- Size:
- 710 amino acids
- Molecular mass:
- 80313 Da
- Quaternary structure:
-
- Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61; the association of RTF1 appears to be less stable than that of other subunits. At least in HeLa cells a N-terminal shorter form of RTF1 is also found in the complex (PubMed:20178742). The PAF1 complex interacts with PHF5A (By similarity).
- SequenceCaution:
-
- Sequence=AAH15052.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA13382.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for RTF1 Gene
Post-translational modifications for RTF1 Gene
Other Protein References for RTF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for RTF1
- Novus Biologicals Antibodies for RTF1
-
Abcam antibodies for RTF1
- Invitrogen Antibodies for RTF1 (AFLGC-RTF1)
-
Custom Antibody ServicesProSci Antibodies for RTF1
Protein products for research
-
OriGene Purified Proteins for RTF1
- Search Origene for MassSpec and Protein Over-expression Lysates for RTF1
- Origene Custom Protein Services for RTF1
-
Abcam proteins for RTF1
Assay products for research
- antibodies-online: Show 4 available RTF1 Elisa Kits ranked by validation data
- Compare Top RTF1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RTF1 Gene
Domains & Families for RTF1 Gene
Gene Families for RTF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RTF1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for RTF1 Gene
- GenScript: Design optimal peptide antigens:
-
- RNA polymerase-associated protein RTF1 homolog (RTF1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q92541- Domain:
-
- The Plus3 domain mediates single-stranded DNA-binding.
Function for RTF1 Gene
Molecular function for RTF1 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 independently 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. Binds single-stranded DNA. Required for maximal induction of heat-shock genes. Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of a SET1 complex (By similarity).
Phenotypes From GWAS Catalog for RTF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003697 | single-stranded DNA binding | IDA | 18184592 |
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0005515 | protein binding | IPI | 15923622 |
| GO:1990269 | RNA polymerase II C-terminal domain phosphoserine binding | IBA | 21873635 |
Phenotypes for RTF1 Gene
- MGI mutant phenotypes for RTF1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RTF1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Reduced mammosphere formation
- shRNA abundance <= 25%
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased shRNA abundance (Z-score < -2)
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Increased transcriptional activity
- Increased shRNA abundance (Z-score > 2)
- Decreased interferon-beta reporter expression
- Decreased viability with TRAIL
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
- Downregulation of NF-kappaB pathway after TNFalpha stimulation
Animal Models for RTF1 Gene
- MGI Knock Outs for RTF1:
-
- Rtf1 Rtf1<tm1a(KOMP)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RTF1 - Starting at $85 >
- * RTF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RTF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RTF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RTF1
miRNA for RTF1 Gene
- miRTarBase miRNAs that target RTF1
-
- hsa-miR-26b-5p (MIRT029127)
- hsa-miR-196b-5p (MIRT042673)
- hsa-miR-26a-5p (MIRT072125)
- hsa-miR-5096 (MIRT521273)
- hsa-miR-6855-5p (MIRT521274)
- hsa-miR-3170 (MIRT521275)
- hsa-miR-411-5p (MIRT521276)
- hsa-miR-3152-3p (MIRT521277)
- hsa-miR-6832-5p (MIRT521278)
- hsa-miR-193b-5p (MIRT521279)
- hsa-miR-509-3p (MIRT521280)
- hsa-miR-1273f (MIRT521281)
- hsa-miR-10b-3p (MIRT521282)
- hsa-miR-6890-5p (MIRT521283)
- mmu-miR-466f-3p (MIRT588983)
- mmu-miR-466i-3p (MIRT588984)
- mmu-miR-362-3p (MIRT591699)
- mmu-miR-329-3p (MIRT591700)
- hsa-miR-6812-3p (MIRT614785)
- hsa-miR-4639-3p (MIRT614786)
- hsa-miR-4789-3p (MIRT614787)
- hsa-miR-466 (MIRT627655)
- hsa-miR-4672 (MIRT627656)
- hsa-miR-3941 (MIRT630269)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RTF1
- Browse OriGene Inhibitory RNA Products For RTF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTF1
Clone products for research
- Applied Biological Materials (abm): Clones for RTF1 - Starting at $45 >
- * RTF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RTF1
- Addgene plasmids for RTF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RTF1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RTF1 Gene
Localization for RTF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RTF1 Gene
- Nucleus, nucleoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IEA | -- |
| GO:0016593 | Cdc73/Paf1 complex | IEA,IDA | 20178742 |
Pathways & Interactions for RTF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of HIV-1 elongation complex containing HIV-1 Tat | ||
| 2 | Protein ubiquitination | ||
| 3 | Metabolism of proteins | ||
| 4 | Chromatin Regulation / Acetylation | ||
| 5 | Gene Expression |
.48
|
|
Pathways by source for RTF1 Gene
1 BioSystems pathway for RTF1 Gene
1 Cell Signaling Technology pathway for RTF1 Gene
Interacting Proteins for RTF1 Gene
Selected Interacting proteins:
Q92541-RTF1_HUMAN
ENSP00000374280
for RTF1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RTF1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
| GO:0001711 | endodermal cell fate commitment | IEA,ISS | -- |
| GO:0001832 | blastocyst growth | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | TAS | -- |
| GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | -- |
No data available for SIGNOR curated interactions for RTF1 Gene
Transcripts for RTF1 Gene
mRNA/cDNA for RTF1 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000389629 5021 nts (view in UCSC)
- ENST00000462276 485 nts (view in UCSC)
- ENST00000473214 475 nts (view in UCSC)
- ENST00000558117 552 nts (view in UCSC)
- ENST00000558298 327 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RTF1 - Starting at $85 >
- * RTF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RTF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RTF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RTF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RTF1
- Browse OriGene Inhibitory RNA Products For RTF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTF1
Clone products for research
- Applied Biological Materials (abm): Clones for RTF1 - Starting at $45 >
- * RTF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RTF1
- Addgene plasmids for RTF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RTF1
Relevant External Links for RTF1 Gene
- GeneLoc Exon Structure for
- RTF1
Expression for RTF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Lung (32.3) and Peripheral blood mononuclear cells (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RTF1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RTF1
SOURCE GeneReport for Unigene cluster for RTF1 Gene:
Hs.511096Evidence on tissue expression from TISSUES for RTF1 Gene
- Nervous system(4.7)
- Blood(2.2)
- Skin(2.1)
- Thyroid gland(2)
Primer products for research
-
OriGene qPCR primer pairs for RTF1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RTF1 Gene
Orthologs for RTF1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RTF1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RTF1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RTF1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RTF1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RTF1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rtf1 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RTF1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RTF1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rtf1 30 |
|
||
| Str.16458 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16706 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rtf1 30 31 |
|
OneToOne | |
| Dr.15115 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2044 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rtf1 30 31 |
|
OneToMany | |
| CG31703 31 |
|
OneToMany | |||
| CG31702 31 |
|
OneToMany | |||
| CG12498 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | F25B3.6 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RTF1 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1372 31 |
|
OneToOne |
- Species where no ortholog for RTF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 RTF1 Gene
- ENSEMBL:
- Gene Tree for RTF1 (if available)
- TreeFam:
- Gene Tree for RTF1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RTF1: view image
Paralogs for RTF1 Gene
No data available for Paralogs for RTF1 Gene
Variants for RTF1 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2580n100 | CNV | gain | 25217958 |
| esv2674168 | CNV | deletion | 23128226 |
| esv3636243 | CNV | loss | 21293372 |
| esv3636244 | CNV | loss | 21293372 |
| nsv1039283 | CNV | gain | 25217958 |
| nsv1505 | CNV | insertion | 18451855 |
| nsv524476 | CNV | loss | 19592680 |
| nsv569232 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.88;
18.37% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RTF1 Gene
SNP Genotyping and Copy Number Assays for research
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 RTF1 Gene
Disorders for RTF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 47 |
|
|
| hereditary wilms' tumor |
|
|
Search RTF1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RTF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RTF1 Gene
Publications for RTF1 Gene
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PMID: 21406692) Rigbolt KT … Blagoev B (Science signaling 2011) 3 4
- The human PAF1 complex acts in chromatin transcription elongation both independently and cooperatively with SII/TFIIS. (PMID: 20178742) Kim J … Roeder RG (Cell 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- A genome-scale RNAi screen for Oct4 modulators defines a role of the Paf1 complex for embryonic stem cell identity. (PMID: 19345177) Ding L … Buchholz F (Cell stem cell 2009) 3 4
- Structure and DNA binding of the human Rtf1 Plus3 domain. (PMID: 18184592) de Jong RN … Folkers GE (Structure (London, England : 1993) 2008) 3 4
ExternalLinks
Products for RTF1 Gene
- Custom Antibody ServicesOriGene Antibodies for RTF1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RTF1
- Search Origene for MassSpec and Protein Over-expression Lysates for RTF1
- Origene Custom Protein Services for RTF1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RTF1
- Browse OriGene Inhibitory RNA Products For RTF1
- OriGene qPCR primer pairs for RTF1
- OriGene CRISPR knockouts for RTF1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RTF1
- Sino Biological Human cDNA Clone for RTF1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RTF1
- Novus Biologicals proteins and lysates for RTF1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for RTF1
- Abcam proteins for RTF1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for RTF1 (AFLGC-RTF1)
- VectorBuilder Custom and pre-made DNA vectors for RTF1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RTF1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RTF1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RTF1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RTF1
- Addgene plasmids for RTF1
- antibodies-online: Show 14 available RTF1 Antibodies ranked by validation data
- Compare Top RTF1 Antibodies
- antibodies-online: Show 4 available RTF1 Elisa Kits ranked by validation data
- Compare Top RTF1 Elisa Kits
- Quality Products:
- antibodies-online: Show 3 available RTF1 Proteins ranked by validation data
- Compare Top RTF1 Proteins
- Custom Antibody ServicesProSci Antibodies for RTF1
- Search for RTF1 Proteins at ProSci
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RTF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RTF1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RTF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTF1
Sources for RTF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB