Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory sign... See more...

Aliases for TAF13 Gene

Aliases for TAF13 Gene

  • TATA-Box Binding Protein Associated Factor 13 2 3 5
  • Transcription Initiation Factor TFIID Subunit 13 2 3 4
  • TAFII18 2 3 4
  • TAF13 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 18kDa 2 3
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, K, 18kD 2 3
  • Transcription Initiation Factor TFIID 18 KDa Subunit 3 4
  • TAF(II)18 3 4
  • TAFII-18 3 4
  • TAF2K 3 4
  • Transcription Initiation Factor TFIID 18 KD Subunit 3
  • MRT60 3
  • TAF13 5

External Ids for TAF13 Gene

Previous HGNC Symbols for TAF13 Gene

  • TAF2K

Previous GeneCards Identifiers for TAF13 Gene

  • GC01M110076
  • GC01M9C0097
  • GC01U900282
  • GC00M9T0035
  • GC01M109318
  • GC01M109406
  • GC01M109605
  • GC01M107499

Summaries for TAF13 Gene

Entrez Gene Summary for TAF13 Gene

  • Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]

GeneCards Summary for TAF13 Gene

TAF13 (TATA-Box Binding Protein Associated Factor 13) is a Protein Coding gene. Diseases associated with TAF13 include Mental Retardation, Autosomal Recessive 60 and Primary Autosomal Recessive Microcephaly. Among its related pathways are Tat-mediated elongation of the HIV-1 transcript and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein C-terminus binding. An important paralog of this gene is SUPT3H.

UniProtKB/Swiss-Prot Summary for TAF13 Gene

  • Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells.

Gene Wiki entry for TAF13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TAF13 Gene

Genomics for TAF13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TAF13 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J109074 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 259.5 +0.3 257 2.7 ZNF207 NCOR1 MYC ZNF600 IKZF1 SSRP1 POLR2A CEBPA BRCA1 YY1 TAF13 RF00017-249 lnc-TMEM167B-2 lnc-TMEM167B-4 ENSG00000258634 PRPF38B RPL17P7 STRIP1 ENSG00000228665 CLCC1
GH01J109040 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.7 +34.5 34502 3 BCLAF1 ZNF207 MYC ZNF600 KLF9 POLR2A BRCA1 NFIC ZBTB10 NONO WDR47 TAF13 TMEM167B FJ601684-025 CLCC1
GH01J109049 Enhancer 0.7 Ensembl ENCODE 17.3 +25.5 25458 1.3 CTBP1 ZFP91 TCF7L2 ZNF217 PKNOX1 ZBTB33 MEIS2 CEBPB ZNF24 FOS TAF13 TMEM167B HSALNG0005849 WDR47 HSALNG0005850
GH01J108961 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.7 +112.8 112752 2.7 BCLAF1 SP1 ZNF207 IKZF1 MYC SSRP1 ZNF580 ZNF592 ATF2 KLF9 AKNAD1 CLCC1 PRPF38B C1orf194 WDR47 TAF13 lnc-WDR47-1 GPSM2
GH01J109034 Enhancer 0.3 Ensembl 11.4 +41.3 41302 0.2 ZBTB48 FJ601684-025 TAF13 TMEM167B WDR47 ENSG00000228665 CLCC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAF13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAF13

Top Transcription factor binding sites by QIAGEN in the TAF13 gene promoter:
  • C/EBPbeta
  • COUP
  • COUP-TF
  • COUP-TF1
  • E2F
  • E2F-1
  • HNF-4alpha1
  • HNF-4alpha2
  • SRY
  • TBP

Genomic Locations for TAF13 Gene

Latest Assembly
chr1:109,062,486-109,076,003
(GRCh38/hg38)
Size:
13,518 bases
Orientation:
Minus strand

Previous Assembly
chr1:109,606,762-109,618,625
(GRCh37/hg19 by Entrez Gene)
Size:
11,864 bases
Orientation:
Minus strand

chr1:109,605,108-109,618,624
(GRCh37/hg19 by Ensembl)
Size:
13,517 bases
Orientation:
Minus strand

Genomic View for TAF13 Gene

Genes around TAF13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAF13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAF13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAF13 Gene

Proteins for TAF13 Gene

  • Protein details for TAF13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15543-TAF13_HUMAN
    Recommended name:
    Transcription initiation factor TFIID subunit 13
    Protein Accession:
    Q15543
    Secondary Accessions:
    • B2R5E5
    • Q5TYV6

    Protein attributes for TAF13 Gene

    Size:
    124 amino acids
    Molecular mass:
    14287 Da
    Quaternary structure:
    • TFIID is composed of TATA binding protein (TBP) and a number of TBP-associated factors (TAFs). Interacts with TBP, and more strongly with TAF10 and TAF11.

    Three dimensional structures from OCA and Proteopedia for TAF13 Gene

neXtProt entry for TAF13 Gene

Post-translational modifications for TAF13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TAF13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for TAF13

No data available for DME Specific Peptides for TAF13 Gene

Domains & Families for TAF13 Gene

Gene Families for TAF13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TAF13 Gene

InterPro:
Blocks:
  • Transcription initiation factor IID, 18 kDa subunit

Suggested Antigen Peptide Sequences for TAF13 Gene

GenScript: Design optimal peptide antigens:
  • TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa (Q0VA92_HUMAN)
  • Transcription initiation factor TFIID 18 kDa subunit (TAF13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15543

UniProtKB/Swiss-Prot:

TAF13_HUMAN :
  • The binding of TAF10 and TAF11 requires distinct domains of TAF13.
  • Belongs to the TAF13 family.
Domain:
  • The binding of TAF10 and TAF11 requires distinct domains of TAF13.
Family:
  • Belongs to the TAF13 family.
genes like me logo Genes that share domains with TAF13: view

Function for TAF13 Gene

Molecular function for TAF13 Gene

UniProtKB/Swiss-Prot Function:
Component of the DNA-binding general RNA polymerase II transcription factor IID complex (TFIID). TFIID plays a critical role in the regulation of gene transcription in eukaryotic cells.

Phenotypes From GWAS Catalog for TAF13 Gene

Gene Ontology (GO) - Molecular Function for TAF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 7729427
GO:0008022 protein C-terminus binding IPI 7729427
GO:0016251 RNA polymerase II general transcription initiation factor activity IC 29111974
GO:0017025 TBP-class protein binding IPI 29111974
genes like me logo Genes that share ontologies with TAF13: view
genes like me logo Genes that share phenotypes with TAF13: view

Human Phenotype Ontology for TAF13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for TAF13 Gene

miRTarBase miRNAs that target TAF13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF13

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TAF13 Gene

Localization for TAF13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAF13 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 TAF13 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005669 transcription factor TFIID complex NAS 9695952
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with TAF13: view

Pathways & Interactions for TAF13 Gene

genes like me logo Genes that share pathways with TAF13: view

Pathways by source for TAF13 Gene

1 BioSystems pathway for TAF13 Gene
1 KEGG pathway for TAF13 Gene
1 GeneGo (Thomson Reuters) pathway for TAF13 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
7 Qiagen pathways for TAF13 Gene
  • Assembly of RNA Polymerase-II Initiation Complex
  • Crosstalk Between CARM1 and ESRs
  • Estrogen Pathway
  • Glucocorticoid Receptor Signaling
  • Nuclear Receptor Activation by Vitamin-A

Gene Ontology (GO) - Biological Process for TAF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006352 DNA-templated transcription, initiation NAS 9695952
GO:0006366 transcription by RNA polymerase II IBA,TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0042795 snRNA transcription by RNA polymerase II TAS --
GO:1901796 regulation of signal transduction by p53 class mediator TAS --
genes like me logo Genes that share ontologies with TAF13: view

No data available for SIGNOR curated interactions for TAF13 Gene

Drugs & Compounds for TAF13 Gene

No Compound Related Data Available

Transcripts for TAF13 Gene

mRNA/cDNA for TAF13 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 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 TAF13

Alternative Splicing Database (ASD) splice patterns (SP) for TAF13 Gene

No ASD Table

Relevant External Links for TAF13 Gene

GeneLoc Exon Structure for
TAF13

Expression for TAF13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TAF13 Gene

Protein differential expression in normal tissues from HIPED for TAF13 Gene

This gene is overexpressed in Fetal Brain (39.3) and Placenta (29.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TAF13 Gene



Protein tissue co-expression partners for TAF13 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAF13

SOURCE GeneReport for Unigene cluster for TAF13 Gene:

Hs.632426

Evidence on tissue expression from TISSUES for TAF13 Gene

  • Nervous system(4.5)
  • Liver(2)
genes like me logo Genes that share expression patterns with TAF13: 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 TAF13 Gene

Orthologs for TAF13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TAF13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TAF13 29 30
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TAF13 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TAF13 29 30
  • 95.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TAF13 29 30
  • 94.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Taf13 29 16 30
  • 90.32 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TAF13 29 30
  • 82.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TAF13 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia taf13 29
  • 78.91 (n)
Str.6597 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.4615 29
Zebrafish
(Danio rerio)
Actinopterygii taf13 29 30
  • 74.15 (n)
OneToOne
wufc20d03 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1879 29
Fruit Fly
(Drosophila melanogaster)
Insecta Taf13 29 30 31
  • 67.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008045 29
  • 65.29 (n)
Worm
(Caenorhabditis elegans)
Secernentea taf-13 29 30
  • 58.7 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF13 30 32
  • 17 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TAF13 29
  • 63.04 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5080 30
  • 66 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4198 29
Species where no ortholog for TAF13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rat (Rattus norvegicus)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TAF13 Gene

ENSEMBL:
Gene Tree for TAF13 (if available)
TreeFam:
Gene Tree for TAF13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TAF13: view image
Alliance of Genome Resources:
Additional Orthologs for TAF13

Paralogs for TAF13 Gene

Paralogs for TAF13 Gene

(1) SIMAP similar genes for TAF13 Gene using alignment to 2 proteins:

  • TAF13_HUMAN
  • Q0VA92_HUMAN

Pseudogenes.org Pseudogenes for TAF13 Gene

genes like me logo Genes that share paralogs with TAF13: view

Variants for TAF13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAF13 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1030003 Uncertain Significance: Mental retardation, autosomal recessive 60 109,066,217(-) T/C
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)
MISSENSE
1034201 Pathogenic: Mental retardation, autosomal recessive 60 109,064,694(-) C/T
NM_005645.4(TAF13):c.205-1G>A
SPLICE_ACCEPTOR
986182 Uncertain Significance: Inborn genetic diseases 109,066,214(-) C/T
NM_005645.4(TAF13):c.125G>A (p.Gly42Asp)
MISSENSE
998375 Pathogenic: Mental retardation, autosomal recessive 60 109,064,641(-) AT/A
NM_005645.4(TAF13):c.256del (p.Ile86fs)
FRAMESHIFT
rs106050502 Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432] p.Met40Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TAF13 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 TAF13 Gene

Variant ID Type Subtype PubMed ID
esv2669667 CNV deletion 23128226
esv2715973 CNV deletion 23290073
esv2715984 CNV deletion 23290073
esv3587147 CNV loss 21293372
esv3894001 CNV gain 25118596
nsv1078062 CNV deletion 25765185
nsv1119707 CNV deletion 24896259
nsv831026 CNV loss 17160897
nsv954947 CNV deletion 24416366

Variation tolerance for TAF13 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.11; 2.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAF13 Gene

Human Gene Mutation Database (HGMD)
TAF13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAF13
Leiden Open Variation Database (LOVD)
TAF13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF13 Gene

Disorders for TAF13 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TAF13 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TAF13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAF13_HUMAN
  • Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly. MRT60 inheritance is autosomal recessive. {ECO:0000269 PubMed:28257693}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TAF13

genes like me logo Genes that share disorders with TAF13: view

No data available for Genatlas for TAF13 Gene

Publications for TAF13 Gene

  1. Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. (PMID: 28257693) Tawamie H … Abou Jamra R (American journal of human genetics 2017) 3 4 72
  2. Cloning and characterization of hTAFII18, hTAFII20 and hTAFII28: three subunits of the human transcription factor TFIID. (PMID: 7729427) Mengus G … Davidson I (The EMBO journal 1995) 2 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. 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
  5. Human TAF(II)28 and TAF(II)18 interact through a histone fold encoded by atypical evolutionary conserved motifs also found in the SPT3 family. (PMID: 9695952) Birck C … Moras D (Cell 1998) 3 4

Products for TAF13 Gene

Sources for TAF13 Gene