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Aliases for TAF13 Gene

Aliases for TAF13 Gene

  • TATA-Box Binding Protein Associated Factor 13 2 3 5
  • 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
  • TAFII18 3 4
  • TAF2K 3 4
  • Transcription Initiation Factor TFIID 18 KD Subunit 3
  • Transcription Initiation Factor TFIID Subunit 13 3
  • MRT60 3

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 Microcephaly. Among its related pathways are Gene Expression 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.

UniProtKB/Swiss-Prot 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

Additional gene information for TAF13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAF13 Gene

Genomics for TAF13 Gene

GeneHancer (GH) Regulatory Elements for TAF13 Gene

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 2.1 EPDnew Ensembl ENCODE 659.6 +0.1 79 2.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 TAF13 STRIP1 ENSG00000258634 CLCC1 PRPF38B RANP5
GH01J109040 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.6 +34.5 34502 2.6 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 SLC30A9 POLR2B ZNF766 CBX5 ZNF207 WDR47 STRIP1 PRPF38B TAF13 GC01P109031
GH01J108961 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.7 +112.8 112811 2.6 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 CLCC1 ENSG00000274068 PRPF38B GNAI3 AKNAD1 RPL17P7 SLC25A24 RPS27P6 C1orf194 WDR47
GH01J109049 Enhancer 0.6 ENCODE 17.3 +25.5 25457 1.3 MEIS2 PKNOX1 ZNF217 ZNF121 CTBP1 GATA3 ZFP91 ZBTB33 FOS FOSL2 TAF13 TMEM167B RANP5
GH01J109079 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.7 -4.2 -4233 1.4 HDGF PKNOX1 ARNT DMAP1 ZNF48 ATF7 NCOA1 ZNF592 GMEB1 SMARCA4 STRIP1 ENSG00000258634 C1orf194 PRPF38B ATXN7L2 TAF13 TMEM167B LOC105378892
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAF13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAF13 gene promoter:

Genomic Locations for TAF13 Gene

Genomic Locations for TAF13 Gene
chr1:109,062,486-109,076,002
(GRCh38/hg38)
Size:
13,517 bases
Orientation:
Minus strand
chr1:109,605,108-109,618,624
(GRCh37/hg19)

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:

No data available for DME Specific Peptides for TAF13 Gene

Domains & Families for TAF13 Gene

Gene Families for TAF13 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TAF13 Gene

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.

Gene Ontology (GO) - Molecular Function for TAF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA --
GO:0003700 DNA binding transcription factor activity NAS 9695952
GO:0003712 transcription coregulator activity IBA --
GO:0005515 protein binding IPI 7729427
GO:0008022 protein C-terminus binding IPI 7729427
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

Animal Model Products

miRNA for TAF13 Gene

miRTarBase miRNAs that target TAF13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
extracellular 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TAF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
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

Gene Ontology (GO) - Biological Process for TAF13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006352 DNA-templated transcription, initiation NAS 9695952
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II 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

(73) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TAF13 Gene

TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for TAF13 Gene

GeneLoc Exon Structure for
TAF13
ECgene alternative splicing isoforms for
TAF13

Expression for TAF13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of TAF13 Gene:

TAF13

SOURCE GeneReport for Unigene cluster for TAF13 Gene:

Hs.632426

Evidence on tissue expression from TISSUES for TAF13 Gene

  • Nervous system(4.4)
  • Liver(2)
genes like me logo Genes that share expression patterns with TAF13: 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 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 34 33
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TAF13 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TAF13 34 33
  • 95.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TAF13 34 33
  • 94.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Taf13 16 34 33
  • 90.32 (n)
chicken
(Gallus gallus)
Aves TAF13 34 33
  • 82.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TAF13 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia taf13 33
  • 78.91 (n)
Str.6597 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4615 33
zebrafish
(Danio rerio)
Actinopterygii taf13 34 33
  • 74.15 (n)
OneToOne
wufc20d03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1879 33
fruit fly
(Drosophila melanogaster)
Insecta Taf13 34 35 33
  • 67.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008045 33
  • 65.29 (n)
worm
(Caenorhabditis elegans)
Secernentea taf-13 34 33
  • 58.7 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF13 36 34
  • 17 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TAF13 33
  • 63.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5080 34
  • 66 (a)
OneToOne
Cin.4198 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4198 33
Species where no ortholog for TAF13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

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

No data available for Paralogs for TAF13 Gene

Variants for TAF13 Gene

Sequence variations from dbSNP and Humsavar for TAF13 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1060505029 pathogenic, Mental retardation, autosomal recessive 60, not provided 109,066,220(-) A/T coding_sequence_variant, missense_variant
rs1060505030 pathogenic, Mental retardation, autosomal recessive 60, not provided 109,075,001(-) A/G/T coding_sequence_variant, missense_variant
VAR_079046 Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432] p.Leu31His
VAR_079047 Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432] p.Met40Lys
rs1000070937 -- 109,076,050(-) C/A/T upstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TAF13 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TAF13 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 60
  • mrt60
microcephaly
  • microcephalus
- 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 mutations 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. 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 58
  2. 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 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  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 58
  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 58

Products for TAF13 Gene

Sources for TAF13 Gene

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