TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009] See more...

Aliases for TAF1D Gene

Aliases for TAF1D Gene

  • TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit D 2 3 5
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase I, D, 41kDa 2 3
  • TATA Box-Binding Protein-Associated Factor RNA Polymerase I Subunit D 3 4
  • RNA Polymerase I-Specific TBP-Associated Factor 41 KDa 3 4
  • Transcription Initiation Factor SL1/TIF-IB Subunit D 3 4
  • TATA Box-Binding Protein-Associated Factor 1D 3 4
  • Josephin Domain Containing 3 2 3
  • TBP-Associated Factor 1D 3 4
  • TAF(I)41 2 3
  • TAFI41 3 4
  • JOSD3 3 4
  • TATA-Box Binding Protein Associated Factor, RNA Polymerase I, D 3
  • MGC5306 2
  • RAFI41 3
  • TAF1D 5

External Ids for TAF1D Gene

Previous HGNC Symbols for TAF1D Gene

  • JOSD3

Previous GeneCards Identifiers for TAF1D Gene

  • GC11M093183
  • GC11M093195
  • GC11M093203
  • GC11M093472
  • GC11M093479
  • GC11M093480
  • GC11M093487
  • GC11M093503
  • GC11M093511
  • GC11M093519
  • GC11M093529
  • GC11M093545
  • GC11M093568

Summaries for TAF1D Gene

Entrez Gene Summary for TAF1D Gene

  • TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]

GeneCards Summary for TAF1D Gene

TAF1D (TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit D) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RNA Polymerase I Promoter Escape.

UniProtKB/Swiss-Prot Summary for TAF1D 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAF1D Gene

Genomics for TAF1D Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TAF1D 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 TAF1D on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the TAF1D gene promoter:
  • aMEF-2
  • AML1a
  • FOXO3
  • FOXO3a
  • FOXO3b
  • GR
  • GR-alpha
  • MEF-2
  • MEF-2A
  • RSRFC4

Genomic Locations for TAF1D Gene

Latest Assembly
chr11:93,729,948-93,784,391
(GRCh38/hg38)
Size:
54,444 bases
Orientation:
Minus strand

Previous Assembly
chr11:93,463,360-93,474,661
(GRCh37/hg19 by Entrez Gene)
Size:
11,302 bases
Orientation:
Minus strand

chr11:93,463,114-93,517,557
(GRCh37/hg19 by Ensembl)
Size:
54,444 bases
Orientation:
Minus strand

Genomic View for TAF1D Gene

Genes around TAF1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAF1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAF1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAF1D Gene

Proteins for TAF1D Gene

  • Protein details for TAF1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5J8-TAF1D_HUMAN
    Recommended name:
    TATA box-binding protein-associated factor RNA polymerase I subunit D
    Protein Accession:
    Q9H5J8
    Secondary Accessions:
    • Q6I9Y6

    Protein attributes for TAF1D Gene

    Size:
    278 amino acids
    Molecular mass:
    32058 Da
    Quaternary structure:
    • Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D. Interacts with UBTF.

neXtProt entry for TAF1D Gene

Post-translational modifications for TAF1D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TAF1D Gene

Domains & Families for TAF1D Gene

Gene Families for TAF1D Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TAF1D Gene

InterPro:

Suggested Antigen Peptide Sequences for TAF1D Gene

GenScript: Design optimal peptide antigens:
  • Transcription initiation factor SL1/TIF-IB subunit D (TAF1D_HUMAN)
genes like me logo Genes that share domains with TAF1D: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TAF1D Gene

Function for TAF1D Gene

Molecular function for TAF1D 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.

Phenotypes From GWAS Catalog for TAF1D Gene

Gene Ontology (GO) - Molecular Function for TAF1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15520167
GO:0042802 identical protein binding IPI 32296183
genes like me logo Genes that share ontologies with TAF1D: view
genes like me logo Genes that share phenotypes with TAF1D: view

miRNA for TAF1D Gene

miRTarBase miRNAs that target TAF1D

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1D

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TAF1D Gene

Localization for TAF1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAF1D 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 TAF1D gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Centriolar satellite (2)
  • Mitotic spindle (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAF1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005668 RNA polymerase transcription factor SL1 complex IEA --
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TAF1D: view

Pathways & Interactions for TAF1D Gene

genes like me logo Genes that share pathways with TAF1D: view

Gene Ontology (GO) - Biological Process for TAF1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0045815 positive regulation of gene expression, epigenetic TAS --
genes like me logo Genes that share ontologies with TAF1D: view

No data available for SIGNOR curated interactions for TAF1D Gene

Drugs & Compounds for TAF1D Gene

No Compound Related Data Available

Transcripts for TAF1D Gene

mRNA/cDNA for TAF1D Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1D

Alternative Splicing Database (ASD) splice patterns (SP) for TAF1D Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: -
SP5: -
SP6: - - -
SP7:
SP8: -
SP9: - -
SP10:
SP11:

ExUns: 13a · 13b ^ 14
SP1:
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TAF1D Gene

GeneLoc Exon Structure for
TAF1D

Expression for TAF1D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TAF1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAF1D Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TAF1D Gene



Protein tissue co-expression partners for TAF1D Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAF1D

SOURCE GeneReport for Unigene cluster for TAF1D Gene:

Hs.355750

Evidence on tissue expression from TISSUES for TAF1D Gene

  • Nervous system(2.5)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with TAF1D: view

Primer products 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 TAF1D Gene

Orthologs for TAF1D Gene

This gene was present in the common ancestor of chordates.

Orthologs for TAF1D Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TAF1D 29 30
  • 98.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TAF1D 29
  • 79.51 (n)
-- 30
  • 69 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
-- 30
  • 65 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia TAF1D 29 30
  • 78.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Taf1d 29
  • 73.48 (n)
Mouse
(Mus musculus)
Mammalia Taf1d 29 16 30
  • 68.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TAF1D 30
  • 46 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TAF1D 30
  • 10 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TAF1D 30
  • 26 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TAF1D 30
  • 36 (a)
OneToOne
Species where no ortholog for TAF1D 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for TAF1D Gene

ENSEMBL:
Gene Tree for TAF1D (if available)
TreeFam:
Gene Tree for TAF1D (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TAF1D: view image
Alliance of Genome Resources:
Additional Orthologs for TAF1D

Paralogs for TAF1D Gene

No data available for Paralogs for TAF1D Gene

Variants for TAF1D Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAF1D Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs139948226 Benign: not provided 93,730,221(-) C/T
NM_033395.2(CEP295):c.7768-10C>T
NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TAF1D Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TAF1D Gene

Variant ID Type Subtype PubMed ID
esv3627294 CNV gain 21293372
nsv832232 CNV gain 17160897

Variation tolerance for TAF1D Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAF1D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAF1D
Leiden Open Variation Database (LOVD)
TAF1D

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF1D Gene

Disorders for TAF1D Gene

Additional Disease Information for TAF1D

No disorders were found for TAF1D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TAF1D Gene

Publications for TAF1D Gene

  1. A novel nuclear protein, MGC5306 interacts with DNA polymerase beta and has a potential role in cellular phenotype. (PMID: 15520167) Wang L … Banerjee S (Cancer research 2004) 2 3 4 22
  2. A novel TBP-associated factor of SL1 functions in RNA polymerase I transcription. (PMID: 17318177) Gorski JJ … Zomerdijk JC (The EMBO journal 2007) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TAF1D Gene

Sources for TAF1D Gene