TAF13 TATA-box binding protein associated factor 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF13provided by HGNC
Official Full Name: TATA-box binding protein associated factor 13provided by HGNC
Primary source: HGNC:HGNC:11546
See related: Ensembl:ENSG00000197780 MIM:600774; AllianceGenome:HGNC:11546
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRT60; TAF2K; TAFII18; TAFII-18; TAF(II)18
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 23.1), kidney (RPKM 21.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109064140..109076003, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109097179..109108873, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (109606762..109618625, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In an integrative approach combining crystal coordinates, biochemical analyses and data from cross-linking mass-spectrometry (CLMS), the authors determine the architecture of the TAF11/TAF13/TBP complex, revealing TAF11/TAF13 interaction with the DNA binding surface of TBP.
Title: Architecture of TAF11/TAF13/TBP complex suggests novel regulation properties of general transcription factor TFIID.
two homozygous missense are associated with autosomal-recessive intellectual disability and microcephaly
Title: Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, autosomal recessive 60 MedGen: C4479476 OMIM: 617432 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-05-22) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-05-22) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of TFIID with the HIV-1 LTR, and therefore presumably HIV-1 Tat protein, is primarily dependent on the LTR TATA element and may also be stabilized or regulated by flanking E box motifs and basic helix-loop-helix proteins such as AP-4 and E47	PubMed
	tat	TATA binding protein (TBP)-associated factors (TAFs) in the TFIID complex are required for activation by transcription factors, but are dispensable for HIV-1 Tat LTR transactivation function	PubMed
	tat	A novel function of LBP-1, restricting HIV-1 transcription at the level of elongation by preventing the binding of TFIID to the promoter, is suppressed by HIV-1 Tat, indicating Tat helps recruit TFIID to the HIV-1 LTR	PubMed
	tat	HIV-1 Tat stabilizes the interaction of TFIIA with TFIID, and TFIIA and TFIID are required to reconstitute Tat-specific and TAR-dependent activation of HIV transcription in vitro	PubMed
	tat	HIV-1 Tat binds, through amino acids 36-50, directly to the TBP subunit of the TFIID holoenzyme complex (which includes at least TFIID subunits p250, p125, p70, TBP, and p30), and increases the interaction of TFIID with the HIV-1 LTR promoter	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II general transcription initiation factor activity	IC Inferred by Curator more info	PubMed
enables TBP-class protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription initiation	NAS Non-traceable Author Statement more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	IPI Inferred from Physical Interaction more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	IC Inferred by Curator more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	EXP Inferred from Experiment more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription factor TFIID complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIID complex	IPI Inferred from Physical Interaction more info	PubMed
part_of transcription factor TFIID complex	ISS Inferred from Sequence or Structural Similarity more info
part_of transcription factor TFIID complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 13

Names: TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD; transcription initiation factor TFIID 18 kD subunit; transcription initiation factor TFIID 18 kDa subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005645.4 → NP_005636.1 transcription initiation factor TFIID subunit 13

See identical proteins and their annotated locations for NP_005636.1

Status: REVIEWED

Source sequence(s)

AU280379, AV713996, BX679664, X84003

Consensus CDS

CCDS30788.1

UniProtKB/Swiss-Prot

B2R5E5, Q15543, Q5TYV6

UniProtKB/TrEMBL

Q0VA92

Related

ENSP00000355051.4, ENST00000338366.6

Conserved Domains (1) summary

cd07978
Location:29 → 118

TAF13; The TATA Binding Protein (TBP) Associated Factor 13 (TAF13) is one of several TAFs that bind TBP and is involved in forming Transcription Factor IID (TFIID) complex