TAF1 TATA-box binding protein associated factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF1provided by HGNC
Official Full Name: TATA-box binding protein associated factor 1provided by HGNC
Primary source: HGNC:HGNC:11535
See related: Ensembl:ENSG00000147133 MIM:313650; AllianceGenome:HGNC:11535
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: OF; XDP; BA2R; CCG1; CCGS; DYT3; KAT4; P250; NSCL2; TAF2A; MRXS33; N-TAF1; TAFII250; DYT3/TAF1; TAFII-250; TAF(II)250
Summary: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor 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 the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
Expression: Ubiquitous expression in thyroid (RPKM 5.8), endometrium (RPKM 5.4) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: Xq13.1

Exon count:: 46

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (71366357..71530525)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (69800459..69963776)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70586207..70750375)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hierarchical TAF1-dependent co-translational assembly of the basal transcription factor TFIID.
Title: Hierarchical TAF1-dependent co-translational assembly of the basal transcription factor TFIID.
MIAT shuttled by tumor-secreted exosomes promotes paclitaxel resistance in esophageal cancer cells by activating the TAF1/SREBF1 axis.
Title: MIAT shuttled by tumor-secreted exosomes promotes paclitaxel resistance in esophageal cancer cells by activating the TAF1/SREBF1 axis.
TAF1 bromodomain inhibition as a candidate epigenetic driver of congenital heart disease.
Title: TAF1 bromodomain inhibition as a candidate epigenetic driver of congenital heart disease.
TAF1 promotes NSCLC cell epithelial-mesenchymal transition by transcriptionally activating TGFbeta1.
Title: TAF1 promotes NSCLC cell epithelial-mesenchymal transition by transcriptionally activating TGFβ1.
Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB.
Title: Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB.
Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Title: Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Yeast Bromodomain Factor 1 and Its Human Homolog TAF1 Play Conserved Roles in Promoting Homologous Recombination.
Title: Yeast Bromodomain Factor 1 and Its Human Homolog TAF1 Play Conserved Roles in Promoting Homologous Recombination.
Template activating factor-I epigenetically regulates the TERT transcription in human cancer cells.
Title: Template activating factor-I epigenetically regulates the TERT transcription in human cancer cells.
Congenital Heart Defects Due to TAF1 Missense Variants.
Title: Congenital Heart Defects Due to TAF1 Missense Variants.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Title: TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.

Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

Go to the top of the page Help

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, X-linked, syndromic 33 MedGen: C4225418 OMIM: 300966 GeneReviews: Not available	Compare labs
X-linked dystonia-parkinsonism MedGen: C1839130 OMIM: 314250 GeneReviews: X-Linked Dystonia-Parkinsonism Syndrome	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat stimulates the phosphorylation of TFIIF by TAFII250 during Tat-mediated transcription of the HIV-1 LTR promoter	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	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
	tat	HIV-1 Tat binding to TAFII250 inhibits TAFII250 histone acetyltransferase activity and TAFII250-dependent transcription of the MHC class I and beta2-microglobulin promoters	PubMed
	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	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	Amino acids (aa) 67-101 (C-term. domain) of HIV-1 Tat bind to aa 848-1279 of TAFII250, while Tat aa 18-36 (cysteine-rich domain) and 36-56 (includes basic domain) bind to TAFII250 aa 885-984 (AT domain) and 1120-1279 (Rap74 binding domain), respectively	PubMed

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:99087

DXS7502 (e-PCR)
- UniSTS:18207

TAF2A2-1 (e-PCR)
- UniSTS:257056

RH172 (e-PCR)
- UniSTS:34593

TAF2A2-2 (e-PCR)
- UniSTS:257057

TAF2A2-3 (e-PCR)
- UniSTS:257058

TAFII250 (e-PCR)
- UniSTS:257060

TAF1_3469.2 (e-PCR)
- UniSTS:466496

DXS7117 (e-PCR)
- UniSTS:55116

DXS7119 (e-PCR)
- UniSTS:8016

GDB:192491 (e-PCR)
- UniSTS:99677

DXS8030 (e-PCR), detects polymorphism
- UniSTS:82541

SGC34215 (e-PCR)
- UniSTS:45684

RH46036 (e-PCR)
- UniSTS:67196

NoName (e-PCR)
- UniSTS:485787

G60539 (e-PCR)
- UniSTS:137645

WIAF-2170 (e-PCR)
- UniSTS:58331

TAF1L_3640 (e-PCR)
- UniSTS:462578

NoName (e-PCR)
- UniSTS:484089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase I general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II core promoter sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA polymerase II general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II general transcription initiation factor activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II general transcription initiation factor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables RNA polymerase II general transcription initiation factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables TBP-class protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables TBP-class protein binding	IEA Inferred from Electronic Annotation more info
enables TBP-class protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables acetyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
contributes_to histone H3K27me3 reader activity	IPI Inferred from Physical Interaction more info	PubMed
enables histone H4K16ac reader activity	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase activity	IEA Inferred from Electronic Annotation more info
contributes_to histone reader activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nuclear receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein-lysine-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription regulator inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin conjugating enzyme activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA-templated transcription initiation	IEA Inferred from Electronic Annotation more info
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 cellular response to ATP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in mRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of signal transduction by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of androgen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay 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 protein autophosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle G1/S phase transition	TAS Traceable Author Statement more info	PubMed
involved_in regulation of signal transduction by p53 class mediator	TAS Traceable Author Statement more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transcription initiation at RNA polymerase I promoter	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nucleolus	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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	TAS Traceable Author Statement more info	PubMed
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: transcription initiation factor TFIID subunit 1

Names: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa; TBP-associated factor 250 kDa; cell cycle gene 1 protein; cell cycle, G1 phase defect; complementation of cell cycle block, G1-to-S; transcription factor TFIID p250 polypeptide

NP_001273003.2

EC 2.3.1.48

EC 2.7.11.1

NP_004597.3

EC 2.3.1.48

EC 2.7.11.1

NP_620278.2

EC 2.3.1.48

EC 2.7.11.1

XP_005262357.2

EC 2.3.1.48

EC 2.7.11.1

XP_024308198.2

EC 2.3.1.48

EC 2.7.11.1

XP_047298347.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298348.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298349.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298350.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298351.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298352.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298353.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298354.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298355.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298356.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298357.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298358.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298359.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298360.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298361.1

EC 2.3.1.48

EC 2.7.11.1

XP_047298362.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183603.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183604.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183605.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183606.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183607.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183608.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183609.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183610.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183611.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183612.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183613.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183614.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183615.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183616.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183617.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183618.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183619.1

EC 2.3.1.48

EC 2.7.11.1

XP_054183620.1

EC 2.3.1.48

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_012771.2 RefSeqGene

Range

5094..104742

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286074.2 → NP_001273003.2 transcription initiation factor TFIID subunit 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3, also known as neuron specific isoform or N-TAF1).

Source sequence(s)

AB300418, AL590763

UniProtKB/Swiss-Prot

A5CVC8, A5CVC9, A5CVD0, A5CVD1, B1Q2X3, P21675, Q59FZ3, Q6IUZ1, Q70Q86, Q70Q87, Q70T00, Q70T01, Q70T02, Q70T03

Related

ENSP00000276072.5, ENST00000276072.9

Conserved Domains (4) summary

cd05511
Location:1508 → 1620

Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...

pfam09247
Location:8 → 66

TBP-binding; TATA box-binding protein binding

pfam12157
Location:566 → 1029

DUF3591; Protein of unknown function (DUF3591)

pfam15288
Location:1262 → 1297

zf-CCHC_6; Zinc knuckle
NM_001440852.1 → NP_001427781.1 transcription initiation factor TFIID subunit 1 isoform 4

Status: REVIEWED

Source sequence(s)

AL590762, AL590763
NM_001440853.1 → NP_001427782.1 transcription initiation factor TFIID subunit 1 isoform 5

Status: REVIEWED

Source sequence(s)

AL590762, AL590763
NM_001440854.1 → NP_001427783.1 transcription initiation factor TFIID subunit 1 isoform 6

Status: REVIEWED

Source sequence(s)

AL590762, AL590763
NM_004606.5 → NP_004597.3 transcription initiation factor TFIID subunit 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3, resulting in an isoform (1) that is 2 aa shorter than isoform 3. The exon combination of this variant is supported by mRNA annotation on DNA accession AY623109.1.

Source sequence(s)

AB300418, AL590763

Consensus CDS

CCDS14412.2

UniProtKB/Swiss-Prot

A5CVC8, A5CVC9, A5CVD0, A5CVD1, B1Q2X3, P21675, Q59FZ3, Q6IUZ1, Q70Q86, Q70Q87, Q70T00, Q70T01, Q70T02, Q70T03

Related

ENSP00000406549.2, ENST00000423759.6

Conserved Domains (5) summary

cd05511
Location:1508 → 1620

Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...

pfam09247
Location:8 → 66

TBP-binding; TATA box-binding protein binding

pfam12157
Location:566 → 1029

DUF3591; Protein of unknown function (DUF3591)

pfam15288
Location:1262 → 1297

zf-CCHC_6; Zinc knuckle

NF033845
Location:1636 → 1872

MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
NM_138923.4 → NP_620278.2 transcription initiation factor TFIID subunit 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.

Source sequence(s)

AL590763, D90359

Consensus CDS

CCDS35325.2

UniProtKB/Swiss-Prot

A5CVC8, A5CVC9, A5CVD0, A5CVD1, B1Q2X3, P21675, Q59FZ3, Q6IUZ1, Q70Q86, Q70Q87, Q70T00, Q70T01, Q70T02, Q70T03

Related

ENSP00000362895.5, ENST00000373790.9

Conserved Domains (5) summary

cd05511
Location:1487 → 1599

Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...

NF033609
Location:1616 → 1851

MSCRAMM_ClfA; MSCRAMM family adhesin clumping factor ClfA

pfam09247
Location:8 → 66

TBP-binding; TATA box-binding protein binding

pfam12157
Location:545 → 1008

DUF3591; Protein of unknown function (DUF3591)

pfam15288
Location:1241 → 1276

zf-CCHC_6; Zinc knuckle

RNA

NR_104387.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as 2a) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ549248.3 and data in PMID: 12928496.

Source sequence(s)

AB300418, AJ549248, AL590763
NR_104388.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5, also known as 2b) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ549249.2 and data in PMID: 12928496.

Source sequence(s)

AB300418, AJ549249, AL590763
NR_104389.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6, also known as 2c) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ549250.3 and data in PMID: 12928496.

Source sequence(s)

AB300418, AJ549250, AL590763
NR_104390.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7, also known as 2d) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ555148.2 and data in PMID: 12928496.

Source sequence(s)

AB300418, AJ555148, AL590763
NR_104391.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8, also known as 2e) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ555149.2 and data in PMID: 12928496.

Source sequence(s)

AB300418, AJ555149, AL590763
NR_104392.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9, also known as 2f) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711892.1 and data in PMID: 17952504.

Source sequence(s)

AB300418, AJ549248, AL590763, AM711892
NR_104393.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (10, also known as 2g) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711893.1 and data in PMID: 17952504.

Source sequence(s)

AB300418, AJ549248, AL590763, AM711893
NR_104394.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (11, also known as 2h) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711894.1 and data in PMID: 17952504.

Source sequence(s)

AB300418, AJ549248, AL590763, AM711894
NR_104395.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (12, also known as 2i) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711895.1 and data in PMID: 17952504.

Source sequence(s)

AB300418, AJ549248, AL590763, AM711895
NR_104396.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13, also known as 3) includes independently transcribed DYT3 exons only and it thus lacks similarity to variant 3, but it shares DYT3 exon structure with variants 4 through 12. This variant is represented as non-coding because it lacks the entire coding region found in variant 3. This variant is supported by accession AJ549246.2 and data in PMIDs: 12928496 and 23184149.

Source sequence(s)

AJ549246