Tbpl1 TATA box binding protein-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbpl1provided by MGI
Official Full Name: TATA box binding protein-like 1provided by MGI
Primary source: MGI:MGI:1339946
See related: Ensembl:ENSMUSG00000071359 AllianceGenome:MGI:1339946
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: STD; TLF; TRP; Tlp; TRF2; 4732475G08
Summary: Predicted to enable RNA polymerase II core promoter sequence-specific DNA binding activity and RNA polymerase II general transcription initiation factor activity. Acts upstream of or within acrosome assembly; dTTP biosynthetic process; and spermatid nucleus differentiation. Located in cytoplasm and nucleus. Part of transcription factor TFIIA complex. Is expressed in several structures, including central nervous system; early conceptus; ganglia; gonad; and sensory organ. Orthologous to human TBPL1 (TATA-box binding protein like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 19.3), CNS E14 (RPKM 9.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 A3; 10 10.25 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (22579776..22607882, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (22703877..22732666, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Trf2 forms a stable complex with TFIIA or the testis expressed paralogue ALF chaperoned in the cytoplasm by heat shock proteins. It is recruited to active haploid cell promoters together with Tbp, Taf7l and RNA polymerase II. A set of genes activated in haploid spermatids during the first wave of spermatogenesis is down-regulated by Trf2 inactivation.
Title: TRF2 is recruited to the pre-initiation complex as a testis-specific subunit of TFIIA/ALF to promote haploid cell gene expression.
Overexpression and knockdown of TLP revealed that the levels of muscle-specific myosin heavy chain and the myogenic transcription factor myogenin are downregulated by TLP. The proximal AT-rich sequence of the myogenin promoter is responsible for TLP-mediated transcriptional repression.
Title: TBP-like protein (TLP) represses myogenesis via inhibition of the myogenin promoter.
Transplantation of TRF2 overexpressing bone marrow cells into the hematopoietic system of mice resulted in the the development of T-cell lymphomas, but overexpression of the TRF2 transgene was not detectable anymore in the tumors.
Title: Moderate expression of TRF2 in the hematopoietic system increases development of large cell blastic T-cell lymphomas.
Data report on the nucleosomal organization of telomeres that have become deprotected through the deletion of the shelterin components TRF2 or POT1a/b, and show no evidence of changes or nucleosome eviction near the telomere terminus.
Title: No overt nucleosome eviction at deprotected telomeres.
reconfirmed cytoplasmic localization of TRF2; genotoxins caused it to migrate to the nucleus; TRF2 may be involved in genotoxin-induced transcriptional regulation
Title: TATA-binding protein-related factor 2 is localized in the cytoplasm of mammalian cells and much of it migrates to the nucleus in response to genotoxic agents.
TBP-related factor 2 (TRF2) has a role in mouse spermatogenesis
Title: Expression of a testis-specific form of TBP-related factor 2 (TRF2) mRNA during mouse spermatogenesis.
transcription factor IIA may regulate the intracellular molecular state and the function of TATA-binding protein-like protein (TLP) through its property of binding to TLP
Title: Specific interaction with transcription factor IIA and localization of the mammalian TATA-binding protein-like protein (TLP/TRF2/TLF).
these results demonstrate that TRF2 increased expression is a potent oncogenic event that along with telomerase deficiency accelerates carcinogenesis, coincidental with a derepression of telomere recombination
Title: Telomerase abrogation dramatically accelerates TRF2-induced epithelial carcinogenesis.
Mice lacking the TBP-related factor 2 (TRF2) gene, which is highly expressed in the testis, have a severe defect in spermiogenesis. TRF2 expression is shown to be cell type- and stage-specific and play an essential regulatory role in development.
Title: Cell- and stage-specific high-level expression of TBP-related factor 2 (TRF2) during mouse spermatogenesis.
Role of TRF2 mRNA in male germ cells: In transgenic animals deficient in TRF2, spermatid development fails during early spermiogenesis with increased apoptosis and failure to develop testicular spermatozoa. Infertility phenotype in homozygote males.
Title: Spermiogenesis deficiency in mice lacking the Trf2 gene.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tbpl1 (e-PCR), detects polymorphism
- UniSTS:495900

AW491032 (e-PCR)
- UniSTS:180015

AW011832 (e-PCR)
- UniSTS:165681

Tbpl1 (e-PCR), detects polymorphism
- UniSTS:526984

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II general transcription initiation factor activity	ISO Inferred from Sequence Orthology more info
enables general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription initiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dTTP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid nucleus differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIA complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: TATA box-binding protein-like 1

Names: 21 kDa TBP-like protein; TATA box binding protein-like protein; TATA box-binding protein-like protein 1; TATA box-binding protein-related factor 2; TBP-like 1; TBP-like factor; TBP-like protein 1; TBP-related factor 2; TBP-related protein

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_001421603.1 → NP_001408532.1 TATA box-binding protein-like 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC166256
NM_001421604.1 → NP_001408533.1 TATA box-binding protein-like 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC166256

UniProtKB/Swiss-Prot

P62340
NM_001421605.1 → NP_001408534.1 TATA box-binding protein-like 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC166256

UniProtKB/Swiss-Prot

P62340
NM_001421606.1 → NP_001408535.1 TATA box-binding protein-like 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC166256
NM_001421607.1 → NP_001408536.1 TATA box-binding protein-like 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC166256
NM_001421608.1 → NP_001408537.1 TATA box-binding protein-like 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC166256
NM_011603.6 → NP_035733.1 TATA box-binding protein-like 1 isoform 1

See identical proteins and their annotated locations for NP_035733.1

Status: VALIDATED

Source sequence(s)

AC166256

Consensus CDS

CCDS23730.1

UniProtKB/Swiss-Prot

P62340

UniProtKB/TrEMBL

Q8K073

Related

ENSMUSP00000114223.2, ENSMUST00000127698.8

Conserved Domains (1) summary

cd04517
Location:9 → 180

TLF; TBP-like factors (TLF; also called TLP, TRF, TRP), which are found in most metazoans. TLFs and TBPs have well-conserved core domains; however, they only share about 60% similarity. TLFs, like TBPs, interact with TFIIA and TFIIB, which are part of the ...