TBPL1 TATA-box binding protein like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBPL1provided by HGNC
Official Full Name: TATA-box binding protein like 1provided by HGNC
Primary source: HGNC:HGNC:11589
See related: Ensembl:ENSG00000028839 MIM:605521; AllianceGenome:HGNC:11589
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: TLF; TLP; STUD; TRF2; MGC:8389; MGC:9620
Summary: This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]
Expression: Broad expression in testis (RPKM 58.3), bone marrow (RPKM 8.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (133952174..133990432)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (135140198..135178439)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (134273312..134311570)

Chromosome 6 - NC_000006.12 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: 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?

TLP Prevents p53 Degradation through Disrupting the p53-MDM2 Interaction.
Title: TBP-like Protein (TLP) Disrupts the p53-MDM2 Interaction and Induces Long-lasting p53 Activation.
The interaction of TBP-like protein with TFIIA is essential to suppress proteasome-dependent turnover of TBP-like protein
Title: Ubiquitin-proteasome-dependent degradation of TBP-like protein is prevented by direct binding of TFIIA.
miR18a exhibits a protective role in colorectal cancer (CRC) via inhibiting proliferation, invasion and migration of CRC cells by directly targeting the TBPL1 gene.
Title: Tumor suppressor microRNA-18a regulates tumor proliferation and invasion by targeting TBPL1 in colorectal cancer cells.
results suggest that activation of the p21 upstream promoter is mediated by interaction between specific regions of TLP and p53
Title: Interaction between transactivation domain of p53 and middle part of TBP-like protein (TLP) is involved in TLP-stimulated and p53-activated transcription from the p21 upstream promoter.
Western blotting and immunohistochemistry both indicated a higher TBPL1 protein expression level in colorectal cancer tissue. siRNA for TBPL1 transfection obviously slowed down the cell proliferation in both SW-620 and HT-29 cells.
Title: MiR-133b acts as a tumor suppressor and negatively regulates TBPL1 in colorectal cancer cells.
TLP mediates p53-governed transcriptional activation of the p21 upstream promoter.
Title: TATA-binding protein (TBP)-like protein is required for p53-dependent transcriptional activation of upstream promoter of p21Waf1/Cip1 gene.
the knockdown of the endogenous TLP reduced etoposide-induced apoptosis through repression of TAp63 expression. Taken together, our present study identifies a TLP-TAp63 pathway that is further implicated in stress-induced apoptosis.
Title: TATA-binding Protein (TBP)-like Protein Is Engaged in Etoposide-induced Apoptosis through Transcriptional Activation of Human TAp63 Gene.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification of potentially damaging amino acid substitutions leading to human male infertility.
TLF is a functional regulator of transcription with targets distinct from those of TBP.
Title: TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF/TRF2 and TBP.
Data show that during interphase, endogenous or exogenously expressed TRF2 is located almost exclusively in the nucleolus
Title: Cell-specific nucleolar localization of TBP-related factor 2.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
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
involved_in acrosome assembly	IEA Inferred from Electronic Annotation more info
involved_in dTTP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in spermatid nucleus differentiation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription factor TFIIA complex	IEA Inferred from Electronic Annotation more info

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 1; TATA box-binding protein-related factor 2; TBP-like 1; TBP-related factor 2; TBP-related protein; second TBP of unique DNA 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.

Genomic

NG_031808.3 RefSeqGene

Range

6052..43260

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001253676.2 → NP_001240605.1 TATA box-binding protein-like 1

See identical proteins and their annotated locations for NP_001240605.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AI187713, AK292320, AL035699, BI828497, R42082

Consensus CDS

CCDS5168.1

UniProtKB/Swiss-Prot

A8K8F5, O95753, P62380, Q9BWD5, Q9Z2Z0

UniProtKB/TrEMBL

Q7Z6U2

Related

ENSP00000478795.1, ENST00000613034.4

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 ...
NM_004865.4 → NP_004856.1 TATA box-binding protein-like 1

See identical proteins and their annotated locations for NP_004856.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL035699, BC017559, BI560657, R42082

Consensus CDS

CCDS5168.1

UniProtKB/Swiss-Prot

A8K8F5, O95753, P62380, Q9BWD5, Q9Z2Z0

UniProtKB/TrEMBL

Q7Z6U2

Related

ENSP00000237264.3, ENST00000237264.9

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 ...