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Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the ... See more...
Aliases for TAF1C Gene
Aliases for TAF1C Gene
- TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit C 2 3 5
- TAFI110 2 3 4
- TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase I, C, 110kDa 2 3
- TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase I, C, 110kD 2 3
- TATA Box-Binding Protein-Associated Factor RNA Polymerase I Subunit C 3 4
- RNA Polymerase I-Specific TBP-Associated Factor 110 KDa 3 4
- Transcription Initiation Factor SL1/TIF-IB Subunit C 3 4
- TATA Box-Binding Protein-Associated Factor 1C 3 4
External Ids for TAF1C Gene
- HGNC: 11534
- Entrez Gene: 9013
- Ensembl: ENSG00000103168
- OMIM: 604905
- UniProtKB: Q15572
Previous GeneCards Identifiers for TAF1C Gene
- GC16M075062
- GC16M085178
- GC16M083950
- GC16M083991
- GC16M082768
- GC16M084211
- GC16M069965
Summaries for TAF1C Gene
-
Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]
GeneCards Summary for TAF1C Gene
TAF1C (TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit C) is a Protein Coding gene. Diseases associated with TAF1C include Ciliary Dyskinesia, Primary, 13 and Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive. Among its related pathways are RNA Polymerase I Promoter Escape and Apoptotic Pathways in Synovial Fibroblasts.
UniProtKB/Swiss-Prot Summary for TAF1C Gene
-
Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via interaction with RRN3.
Additional gene information for TAF1C Gene
- HGNC(11534)
- Entrez Gene(9013)
- Ensembl(ENSG00000103168)
- OMIM(604905)
- UniProtKB(Q15572)
- Open Targets Platform(ENSG00000103168)
- Monarch Initiative
- Search for TAF1C at DataMed
- Search for TAF1C at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAF1C Gene
Genomics for TAF1C Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TAF1C 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 TAF1C on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAF1C
- Top Transcription factor binding sites by QIAGEN in the TAF1C gene promoter:
-
- AREB6
- COMP1
- GATA-2
- MyoD
- NF-1
- NF-1/L
- Olf-1
- Pax-5
- STAT5B
Genomic Locations for TAF1C Gene
Genomic Locations for TAF1C Gene
- chr16:84,177,847-84,187,070
- (GRCh38/hg38)
- Size:
- 9,224 bases
- Orientation:
- Minus strand
- chr16:84,211,458-84,220,669
- (GRCh37/hg19)
- Size:
- 9,212 bases
- Orientation:
- Minus strand
Genomic View for TAF1C Gene
Genes around TAF1C on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.1 by HGNC
- 16q24.1 by Entrez Gene
- 16q24.1 by Ensembl
TAF1C 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 TAF1C Gene
Proteins for TAF1C Gene
-
Protein details for TAF1C Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15572-TAF1C_HUMAN
- Recommended name:
- TATA box-binding protein-associated factor RNA polymerase I subunit C
- Protein Accession:
- Q15572
- B7Z5K5
- B7Z5S4
- B7Z908
- B7Z9L7
- Q59F67
- Q8N6V3
Protein attributes for TAF1C Gene
- Size:
- 869 amino acids
- Molecular mass:
- 95213 Da
- Quaternary structure:
-
- Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D. In the complex interacts directly with TBP, TAF1A and TAF1B. Interaction of the SL1/TIF-IB subunits with TBP excludes interaction of TBP with the transcription factor IID (TFIID) subunits. Interacts with MYC and RRN3. Interacts with p53/TP53; the interaction prevents the association of SL1/TIF-IB with UBTF and represses RNA polymerase I transcription.
- SequenceCaution:
-
- Sequence=BAD92831.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Protein Expression for TAF1C Gene
Post-translational modifications for TAF1C Gene
Other Protein References for TAF1C Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for TAF1C
-
Abcam antibodies for TAF1C
- Invitrogen Antibodies for TAF1C (AFLGC-TAF1C)
-
Boster Bio Antibodies for TAF1C
-
Santa Cruz Biotechnology (SCBT) Antibodies for TAF1C
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TAF1C
- Origene Custom Protein Services for TAF1C
- antibodies-online: Show 3 available TAF1C Proteins ranked by validation data
- Compare Top TAF1C Proteins
-
Quality Products:
No data available for DME Specific Peptides for TAF1C Gene
Domains & Families for TAF1C Gene
Gene Families for TAF1C Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for TAF1C Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TAF1C Gene
- GenScript: Design optimal peptide antigens:
-
- Transcription initiation factor SL1/TIF-IB subunit C (TAF1C_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TAF1C Gene
Function for TAF1C Gene
Molecular function for TAF1C Gene
- UniProtKB/Swiss-Prot Function:
- Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via interaction with RRN3.
Phenotypes From GWAS Catalog for TAF1C Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001164 | RNA polymerase I CORE element sequence-specific DNA binding | IBA,IDA | 22368283 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 17268553 |
Phenotypes for TAF1C Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TAF1C - Select products 50% OFF >
- * TAF1C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TAF1C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TAF1C
-
Santa Cruz Biotechnology (SCBT) CRISPR for TAF1C
miRNA for TAF1C Gene
- miRTarBase miRNAs that target TAF1C
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TAF1C
- Browse OriGene Inhibitory RNA Products For TAF1C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1C
Clone Products
- Applied Biological Materials (abm): Clones for TAF1C - Select products 50% OFF >
- * TAF1C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210893
- MR210893
- MR210893L3
- MR210893L4
- RC207009
- RC207009L3
- RC207009L4
- RC218836
- RC218836L3
- RC218836L4
- RC232641
- RC232786
- RC234376
- RC234377
- RC234954
- RG207009
- RG218836
- RG232641
- RG232786
- RG234376
- RG234377
- RG234954
- RR202221
- RR202221L3
- RR202221L4
- MR210893L3V
- MR210893L4V
- RC207009L3V
- RC207009L4V
- RC218836L3V
- RC218836L4V
- RR202221L3V
- RR202221L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TAF1C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TAF1C
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TAF1C Gene
Localization for TAF1C Gene
Subcellular locations from UniProtKB/Swiss-Prot for TAF1C Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Nucleoli fibrillar center (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IBA,IDA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | 12498690 |
Pathways & Interactions for TAF1C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
| 2 | RNA Polymerase I Promoter Escape | ||
| 3 | RNA Polymerase II Transcription Initiation And Promoter Clearance |
Protein Acetylation and Deacetylation
.51
|
Crosstalk Between CARM1 and ESRs
.39
|
| 4 | Assembly of RNA Polymerase-I Initiation Complex |
Assembly of RNA Polymerase-I Initiation Complex
-
|
|
| 5 | GPCR Pathway |
Estrogen Pathway
.55
|
|
Pathways by source for TAF1C Gene
6 Qiagen pathways for TAF1C Gene
- Assembly of RNA Polymerase-I Initiation Complex
- Crosstalk Between CARM1 and ESRs
- Estrogen Pathway
- Glucocorticoid Receptor Signaling
- Nuclear Receptor Activation by Vitamin-A
Interacting Proteins for TAF1C Gene
Selected Interacting proteins:
Q15572-TAF1C_HUMAN
ENSP00000455265
for TAF1C Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TAF1C
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001188 | RNA polymerase I preinitiation complex assembly | IEA | -- |
| GO:0006356 | regulation of transcription by RNA polymerase I | NAS | 12498690 |
| GO:0006360 | transcription by RNA polymerase I | TAS | 7801123 |
| GO:0006361 | transcription initiation from RNA polymerase I promoter | TAS | -- |
| GO:0006362 | transcription elongation from RNA polymerase I promoter | TAS | -- |
No data available for SIGNOR curated interactions for TAF1C Gene
Transcripts for TAF1C Gene
mRNA/cDNA for TAF1C Gene
- 7 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000341690 3678 nts (view in UCSC)
- ENST00000537450 1318 nts (view in UCSC)
- ENST00000541676 3502 nts (view in UCSC)
- ENST00000544090 2747 nts (view in UCSC)
- ENST00000561955 570 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TAF1C - Select products 50% OFF >
- * TAF1C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TAF1C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TAF1C
-
Santa Cruz Biotechnology (SCBT) CRISPR for TAF1C
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TAF1C
- Browse OriGene Inhibitory RNA Products For TAF1C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1C
Clone Products
- Applied Biological Materials (abm): Clones for TAF1C - Select products 50% OFF >
- * TAF1C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210893
- MR210893
- MR210893L3
- MR210893L4
- RC207009
- RC207009L3
- RC207009L4
- RC218836
- RC218836L3
- RC218836L4
- RC232641
- RC232786
- RC234376
- RC234377
- RC234954
- RG207009
- RG218836
- RG232641
- RG232786
- RG234376
- RG234377
- RG234954
- RR202221
- RR202221L3
- RR202221L4
- MR210893L3V
- MR210893L4V
- RC207009L3V
- RC207009L4V
- RC218836L3V
- RC218836L4V
- RR202221L3V
- RR202221L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TAF1C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TAF1C
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - |
| ExUns: | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||
| SP11: | - | ||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||
| SP14: | - | - | - | - | |||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||
| SP18: |
Relevant External Links for TAF1C Gene
- GeneLoc Exon Structure for
- TAF1C
Expression for TAF1C Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thyroid (Endocrine System)
This gene is overexpressed in Liver (39.7) and Brain (23.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TAF1C Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAF1C
SOURCE GeneReport for Unigene cluster for TAF1C Gene:
Hs.153022Evidence on tissue expression from TISSUES for TAF1C Gene
- Nervous system(4.3)
- Spleen(4.3)
- Lung(4.2)
- Skin(2)
Primer Products
-
OriGene qPCR primer pairs for TAF1C
-
OriGene qPCR primer pairs and template standards for TAF1C
Gene Expression Assay Products
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 TAF1C Gene
Orthologs for TAF1C Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TAF1C 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TAF1C 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TAF1C 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Taf1c 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Taf1c 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TAF1C 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TAF1C 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LOC101750393 30 |
|
||
| TAF1C 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496040 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | TAF1C 31 |
|
OneToOne |
- Species where no ortholog for TAF1C was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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)
- 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)
- 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 Vase (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)
- Worm (Caenorhabditis elegans)
Evolution for TAF1C Gene
- ENSEMBL:
- Gene Tree for TAF1C (if available)
- TreeFam:
- Gene Tree for TAF1C (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TAF1C: view image
Paralogs for TAF1C Gene
No data available for Paralogs for TAF1C Gene
Variants for TAF1C Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAF1C Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 718606 | Benign: not provided | 84,182,389(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 788903 | Benign: not provided | 84,179,769(-) | G/C | SYNONYMOUS_VARIANT | |
| rs2230129 | Benign: not specified. - | 84,179,828(-) | A/Tp.Leu575Met | MISSENSE_VARIANT | |
| rs2288024 | Benign: Ciliary dyskinesia, primary, 13; not specified | 84,177,859(-) | T/C | THREE_PRIME_UTR_VARIANT | |
| rs4150186 | Likely Benign: Ciliary dyskinesia, primary, 13 | 84,177,908(-) | T/C | THREE_PRIME_UTR_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2761930 | CNV | gain | 21179565 |
| esv3639412 | CNV | loss | 21293372 |
| esv3639413 | CNV | loss | 21293372 |
| esv3639414 | CNV | loss | 21293372 |
| nsv1059227 | CNV | loss | 25217958 |
| nsv1065790 | CNV | loss | 25217958 |
| nsv457597 | CNV | loss | 19166990 |
| nsv483044 | CNV | gain | 15286789 |
| nsv518331 | CNV | loss | 19592680 |
| nsv523437 | CNV | loss | 19592680 |
| nsv573422 | CNV | loss | 21841781 |
| nsv573423 | CNV | loss | 21841781 |
| nsv573424 | CNV | loss | 21841781 |
| nsv833309 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.14;
84.66% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TAF1C Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF1C Gene
Disorders for TAF1C Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ciliary dyskinesia, primary, 13 |
|
|
| hyperpigmentation with or without hypopigmentation, familial progressive |
|
|
| primary ciliary dyskinesia |
|
|
Search TAF1C in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TAF1C
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TAF1C Gene
Publications for TAF1C Gene
- Reconstitution of transcription factor SL1: exclusive binding of TBP by SL1 or TFIID subunits. (PMID: 7801123) Comai L … Tjian R (Science (New York, N.Y.) 1994) 2 3 4
- Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
- A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R … Hallmayer J (Human molecular genetics 2010) 3 41
- A novel TBP-associated factor of SL1 functions in RNA polymerase I transcription. (PMID: 17318177) Gorski JJ … Zomerdijk JC (The EMBO journal 2007) 3 23
- TBP-TAF complex SL1 directs RNA polymerase I pre-initiation complex formation and stabilizes upstream binding factor at the rDNA promoter. (PMID: 15970593) Friedrich JK … Zomerdijk JC (The Journal of biological chemistry 2005) 3 4
ExternalLinks
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