TAF8 TATA-box binding protein associated factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF8provided by HGNC
Official Full Name: TATA-box binding protein associated factor 8provided by HGNC
Primary source: HGNC:HGNC:17300
See related: Ensembl:ENSG00000137413 MIM:609514; AllianceGenome:HGNC:17300
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: II; TAF; TBN; NEDMLHB; TAFII43; TAFII-43; TAF(II)43
Summary: This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 3.7), lymph node (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (42050524..42087462)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (41878783..41915706)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (42018262..42051010)

Chromosome 6 - NC_000006.12 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
Title: TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
TAF8 mutant protein with an unrelated C-terminus. The mutant TAF8 protein could not be detected in extracts from the patient's fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative
Title: Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
the TAF2-TAF8-TAF10 complex demonstrates that there is a stepwise assembly pathway of nuclear holo-TFIID, regulated by nuclear import of preformed cytoplasmic submodules
Title: Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.
Observational study of gene-disease association. (HuGE Navigator)
Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.

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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
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy MedGen: C5774185 OMIM: 619972 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:312714 (e-PCR)
- UniSTS:156429

D8S2279 (e-PCR)
- UniSTS:473907

RH102785 (e-PCR)
- UniSTS:97119

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

GDB:315881 (e-PCR)
- UniSTS:156545

RH103892 (e-PCR)
- UniSTS:98217

RH80031 (e-PCR)
- UniSTS:91103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II general transcription initiation factor activity	IC Inferred by Curator 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
acts_upstream_of_or_within DNA-templated transcription open complex formation	IDA Inferred from Direct Assay 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 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in inner cell mass cell proliferation	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 maintenance of protein location in nucleus	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
acts_upstream_of_or_within regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 8

Names: TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa; TBP-associated factor 43 kDa; TBP-associated factor 8; TBP-associated factor TAFII43; TBP-associated factor, RNA polymerase II, 43 kD; hTAFII43; protein taube nuss; taube nuss homolog; transcription initiation factor TFIID 43 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_001410906.1 → NP_001397835.1 transcription initiation factor TFIID subunit 8 isoform 2

Status: REVIEWED

Source sequence(s)

AL512274, AL513008

Consensus CDS

CCDS93918.1

UniProtKB/TrEMBL

A0A8I5QL44

Related

ENSP00000510786.1, ENST00000686229.1
NM_001410907.1 → NP_001397836.1 transcription initiation factor TFIID subunit 8 isoform 3

Status: REVIEWED

Source sequence(s)

AL512274, AL513008

Consensus CDS

CCDS93919.1

Related

ENSP00000411900.2, ENST00000456846.6
NM_138572.3 → NP_612639.2 transcription initiation factor TFIID subunit 8 isoform 1

See identical proteins and their annotated locations for NP_612639.2

Status: REVIEWED

Source sequence(s)

AF465841, AL512274, BI828714

Consensus CDS

CCDS43462.1

UniProtKB/Swiss-Prot

Q5T0K1, Q7Z7C8, Q8N4R9, Q96M52

UniProtKB/TrEMBL

A0A8I5KVM3

Related

ENSP00000362068.3, ENST00000372977.8

Conserved Domains (2) summary

cd08049
Location:144 → 197

TAF8; TATA Binding Protein (TBP) Associated Factor 8

pfam07524
Location:29 → 106

Bromo_TP; Bromodomain associated

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

42050524..42087462

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418177.1 → XP_047274133.1 transcription initiation factor TFIID subunit 8 isoform X2
XM_047418174.1 → XP_047274130.1 transcription initiation factor TFIID subunit 8 isoform X1

Related

ENSP00000362073.4, ENST00000372982.8
XM_047418178.1 → XP_047274134.1 transcription initiation factor TFIID subunit 8 isoform X4
XM_017010245.2 → XP_016865734.1 transcription initiation factor TFIID subunit 8 isoform X5

UniProtKB/TrEMBL

A0A8I5KXI2

Related

ENSP00000510369.1, ENST00000687601.1
XM_017010244.3 → XP_016865733.1 transcription initiation factor TFIID subunit 8 isoform X3
XM_047418175.1 → XP_047274131.1 transcription initiation factor TFIID subunit 8 isoform X1

Related

ENSP00000417867.1, ENST00000494547.5
XM_005248849.3 → XP_005248906.1 transcription initiation factor TFIID subunit 8 isoform X6

UniProtKB/TrEMBL

A0A0A0MRR3

Related

ENSP00000362069.3, ENST00000372978.7

Conserved Domains (2) summary

pfam07524
Location:29 → 106

Bromo_TP; Bromodomain associated

pfam10406
Location:145 → 163

TAF8_C; Transcription factor TFIID complex subunit 8 C-term

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

41878783..41915706

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054354207.1 → XP_054210182.1 transcription initiation factor TFIID subunit 8 isoform X1
XM_054354211.1 → XP_054210186.1 transcription initiation factor TFIID subunit 8 isoform X4
XM_054354212.1 → XP_054210187.1 transcription initiation factor TFIID subunit 8 isoform X5

UniProtKB/TrEMBL

A0A8I5KXI2
XM_054354210.1 → XP_054210185.1 transcription initiation factor TFIID subunit 8 isoform X3
XM_054354208.1 → XP_054210183.1 transcription initiation factor TFIID subunit 8 isoform X1
XM_054354213.1 → XP_054210188.1 transcription initiation factor TFIID subunit 8 isoform X6
XM_054354209.1 → XP_054210184.1 transcription initiation factor TFIID subunit 8 isoform X2