TAF12 TATA-box binding protein associated factor 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF12provided by HGNC
Official Full Name: TATA-box binding protein associated factor 12provided by HGNC
Primary source: HGNC:HGNC:11545
See related: Ensembl:ENSG00000120656 MIM:600773; AllianceGenome:HGNC:11545
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: TAF2J; TAFII20
Summary: Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008]
Expression: Ubiquitous expression in testis (RPKM 9.9), lymph node (RPKM 8.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p35.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (28602850..28648269, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (28444812..28490693, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (28929362..28969579, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ectopic expression of the TAF4 histone-fold fragment can efficiently squelch TAF12 in cells
Title: A TFIID-SAGA Perturbation that Targets MYB and Suppresses Acute Myeloid Leukemia.
We show that two genes, TDP1, a tyrosyl-DNA-phosphdiesterase, and TAF12, an RNA polymerase II TATA-box binding factor, cause CIN when overexpressed in human cells. Using SDL screens in yeast, we identified a set of genes that when deleted specifically kill cells with high levels of Tdp1
Title: Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancer.
TAF12 and NFYC are transcription factors that regulate the epigenome, whereas RAD54L plays a central role in DNA repair
Title: Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes.
ATF7 interacts with TAF12 and contributes to the hypersensitivity of OCL precursors to 1,25-(OH)D in PD.
Title: Role of ATF7-TAF12 interactions in the vitamin D response hypersensitivity of osteoclast precursors in Paget's disease.
Findings suggest that DNA binding by TAF4/4b-TAF12 facilitates the association of TFIID with the core promoter of a subset of genes.
Title: TAF4/4b x TAF12 displays a unique mode of DNA binding and is required for core promoter function of a subset of genes.
Data present the crystal structure of a complex formed by the interacting domains from two subunits of the general transcription factor TFIID, the human TATA binding protein-associated factors hTAF4 (hTAF(II)135) and hTAF12 (hTAF(II)20).
Title: Crystal structure of a subcomplex of human transcription factor TFIID formed by TATA binding protein-associated factors hTAF4 (hTAF(II)135) and hTAF12 (hTAF(II)20).
histone fold domain mediated interaction enhances the DNA binding activity of each of the TAF6-TAF9 and TAF4b-TAF12 pairs and of a histone-like octamer complex composed of the four TAFs
Title: Core promoter binding by histone-like TAF complexes.
TAF12 hitherto regarded as RNA polymerase II (RNAP II)-specific was found to be also involved in RNAP I transcription.
Title: Identification of novel functional TBP-binding sites and general factor repertoires.

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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

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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Markers

SHGC-30964 (e-PCR)
- UniSTS:2590

RH67949 (e-PCR)
- UniSTS:19683

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables TBP-class protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	IBA Inferred from Biological aspect of Ancestor more info
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 DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of 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 regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of SAGA complex	IDA Inferred from Direct Assay more info	PubMed
part_of SAGA complex	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	EXP Inferred from Experiment more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay 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 TFTC complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFTC complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 12

Names: TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa; TAFII-20/TAFII-15; TAFII20/TAFII15; TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD; transcription initiation factor TFIID 20/15 kDa subunits

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_001135218.2 → NP_001128690.1 transcription initiation factor TFIID subunit 12 isoform 1

See identical proteins and their annotated locations for NP_001128690.1

Status: REVIEWED

Source sequence(s)

AL360012, AL513497, BC011986, BE787487, BM676557

Consensus CDS

CCDS326.1

UniProtKB/Swiss-Prot

D3DPM5, Q15775, Q16514, Q5T077

UniProtKB/TrEMBL

A0A8I5KYW6

Related

ENSP00000263974.4, ENST00000263974.4

Conserved Domains (1) summary

cd07981
Location:58 → 126

TAF12; TATA Binding Protein (TBP) Associated Factor 12
NM_001410769.1 → NP_001397698.1 transcription initiation factor TFIID subunit 12 isoform 2

Status: REVIEWED

Source sequence(s)

AL360012, AL513497

Consensus CDS

CCDS90896.1

UniProtKB/TrEMBL

A0A804HLG9

Related

ENSP00000508345.1, ENST00000495422.2
NM_005644.4 → NP_005635.1 transcription initiation factor TFIID subunit 12 isoform 1

See identical proteins and their annotated locations for NP_005635.1

Status: REVIEWED

Source sequence(s)

AL513497, BM676557, BX095156, U57693

Consensus CDS

CCDS326.1

UniProtKB/Swiss-Prot

D3DPM5, Q15775, Q16514, Q5T077

UniProtKB/TrEMBL

A0A8I5KYW6

Related

ENSP00000362930.4, ENST00000373824.9

Conserved Domains (1) summary

cd07981
Location:58 → 126

TAF12; TATA Binding Protein (TBP) Associated Factor 12

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

28602850..28648269 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017002186.2 → XP_016857675.2 transcription initiation factor TFIID subunit 12 isoform X1
XM_024449368.2 → XP_024305136.1 transcription initiation factor TFIID subunit 12 isoform X2

UniProtKB/Swiss-Prot

D3DPM5, Q15775, Q16514, Q5T077

UniProtKB/TrEMBL

A0A8I5KYW6

Related

ENSP00000509370.1, ENST00000689843.1

Conserved Domains (1) summary

cd07981
Location:58 → 126

TAF12; TATA Binding Protein (TBP) Associated Factor 12