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
  • TBP-Associated Factor 1C 3 4
  • MGC:39976 2 3
  • TAFI95 2 3
  • SL1 2 3
  • TATA-Box Binding Protein Associated Factor, RNA Polymerase I, C 3
  • Transcription Factor SL1 3
  • SL1, 110kD Subunit 3
  • TAF1C 5

External Ids for TAF1C Gene

Previous GeneCards Identifiers for TAF1C Gene

  • GC16M075062
  • GC16M085178
  • GC16M083950
  • GC16M083991
  • GC16M082768
  • GC16M084211
  • GC16M069965

Summaries for TAF1C Gene

Entrez Gene Summary 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.

Gene Wiki entry for TAF1C Gene

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:
TAF1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAF1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for TAF1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TAF1C Gene

Post-translational modifications for TAF1C Gene

  • Ubiquitination at Lys434, Lys124, Lys409, Lys258, Lys323, and Lys645
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for TAF1C Gene

GenScript: Design optimal peptide antigens:
  • Transcription initiation factor SL1/TIF-IB subunit C (TAF1C_HUMAN)
genes like me logo Genes that share domains with TAF1C: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with TAF1C: view
genes like me logo Genes that share phenotypes with TAF1C: view

Animal Model Products

CRISPR Products

miRNA for TAF1C Gene

miRTarBase miRNAs that target TAF1C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1C

Clone Products

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

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 TAF1C gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAF1C Gene

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
genes like me logo Genes that share ontologies with TAF1C: view

Pathways & Interactions for TAF1C Gene

genes like me logo Genes that share pathways with TAF1C: view

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

Gene Ontology (GO) - Biological Process for TAF1C Gene

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 --
genes like me logo Genes that share ontologies with TAF1C: view

No data available for SIGNOR curated interactions for TAF1C Gene

Drugs & Compounds for TAF1C Gene

(1) Additional Compounds for TAF1C Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAF1C: view

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1C

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAF1C Gene

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 normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TAF1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAF1C Gene

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



Protein tissue co-expression partners 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.153022

Evidence on tissue expression from TISSUES for TAF1C Gene

  • Nervous system(4.3)
  • Spleen(4.3)
  • Lung(4.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with TAF1C: view

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.

Orthologs for TAF1C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TAF1C 30 31
  • 99.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TAF1C 30 31
  • 79.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TAF1C 30 31
  • 79.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Taf1c 30
  • 74.83 (n)
Mouse
(Mus musculus)
Mammalia Taf1c 30 17 31
  • 73.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TAF1C 31
  • 50 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TAF1C 31
  • 32 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101750393 30
  • 54.33 (n)
TAF1C 31
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 30 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496040 30
  • 45.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii TAF1C 31
  • 23 (a)
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

Additional dbSNP identifiers (rs#s) for TAF1C Gene

Structural Variations from Database of Genomic Variants (DGV) for TAF1C Gene

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

Variation tolerance for TAF1C Gene

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

Human Gene Mutation Database (HGMD)
TAF1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAF1C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF1C Gene

Disorders for TAF1C Gene

MalaCards: The human disease database

(3) MalaCards diseases for TAF1C Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with TAF1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TAF1C Gene

Publications for TAF1C Gene

  1. 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
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  3. A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R … Hallmayer J (Human molecular genetics 2010) 3 41
  4. 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
  5. 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

Products for TAF1C Gene

Sources for TAF1C Gene