TAF1L TATA-box binding protein associated factor 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF1Lprovided by HGNC
Official Full Name: TATA-box binding protein associated factor 1 likeprovided by HGNC
Primary source: HGNC:HGNC:18056
See related: Ensembl:ENSG00000122728 MIM:607798; AllianceGenome:HGNC:18056
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: TAF2A2; TAF(II)210
Summary: This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]
Orthologs: all
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Genomic context

Location:: 9p21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (32629454..32635669, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (32645649..32651864, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (32629452..32635667, complement)

Chromosome 9 - NC_000009.12 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?

TAF1L promotes development of oral squamous cell carcinoma via decreasing autophagy-dependent apoptosis.
Title: TAF1L promotes development of oral squamous cell carcinoma via decreasing autophagy-dependent apoptosis.
TAF1 and TAF1L genes harbored not only somatic mutations but also mutational ITH.
Title: Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity.
Arose by retroposition of a processed TAF(II)250 mRNA during primate evolution, replaces its function only in male meiosis.
Title: Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

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

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

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

TAF2A2-4 (e-PCR)
- UniSTS:257059

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

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	IBA Inferred from Biological aspect of Ancestor more info
enables TBP-class protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables TBP-class protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone acetyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription factor TFIID complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 1-like

Names: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like; TBP-associated factor 1-like; TBP-associated factor 210 kDa; TBP-associated factor RNA polymerase 1-like; transcription initiation factor TFIID 210 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_153809.2 → NP_722516.1 transcription initiation factor TFIID subunit 1-like

See identical proteins and their annotated locations for NP_722516.1

Status: REVIEWED

Source sequence(s)

AF390562

Consensus CDS

CCDS35003.1

UniProtKB/Swiss-Prot

Q0VG57, Q8IZX4

UniProtKB/TrEMBL

A0A804HK58

Related

ENSP00000418379.1, ENST00000242310.4

Conserved Domains (5) summary

cd05511
Location:1526 → 1638

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:34 → 85

TBP-binding; TATA box-binding protein binding

pfam12157
Location:584 → 1046

DUF3591; Protein of unknown function (DUF3591)

pfam15288
Location:1280 → 1315

zf-CCHC_6; Zinc knuckle

cl22451
Location:1713 → 1798

ASF1_hist_chap; ASF1 like histone chaperone