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Aliases for TBPL1 Gene

Aliases for TBPL1 Gene

  • TATA-Box Binding Protein Like 1 2 3 5
  • TATA Box-Binding Protein-Related Factor 2 3 4
  • Second TBP Of Unique DNA Protein 3 4
  • TBP-Related Factor 2 3 4
  • TBP-Related Protein 3 4
  • TBP-Like Factor 2 4
  • TBP-Like 1 2 3
  • STUD 3 4
  • TRF2 3 4
  • TLP 3 4
  • TLF 3 4
  • TATA Box-Binding Protein-Like Protein 1 3
  • 21-KDA TBP-Like Protein 3
  • 21 KDa TBP-Like Protein 4
  • TBP-Like Protein 1 4
  • MGC:8389 3
  • MGC:9620 3
  • TLP21 4
  • TRP 4

External Ids for TBPL1 Gene

Previous GeneCards Identifiers for TBPL1 Gene

  • GC06P134121
  • GC06P134208
  • GC06P134254
  • GC06P134315
  • GC06P131842
  • GC06P134273

Summaries for TBPL1 Gene

Entrez Gene Summary for TBPL1 Gene

  • 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]

GeneCards Summary for TBPL1 Gene

TBPL1 (TATA-Box Binding Protein Like 1) is a Protein Coding gene. Diseases associated with TBPL1 include Male Infertility. Among its related pathways are PI3K-Akt signaling pathway and Epstein-Barr virus infection. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is TBP.

UniProtKB/Swiss-Prot for TBPL1 Gene

  • Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5-TCT-3 motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box.

Gene Wiki entry for TBPL1 Gene

Additional gene information for TBPL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBPL1 Gene

Genomics for TBPL1 Gene

GeneHancer (GH) Regulatory Elements for TBPL1 Gene

Promoters and enhancers for TBPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I133951 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 567.9 +3.2 3211 8.4 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 TBPL1 SLC2A12 GC06P133988
GH06I133983 Enhancer 1.1 ENCODE dbSUPER 28.5 +31.6 31568 0.9 ZNF133 FEZF1 ZNF2 TCF12 ZNF213 FOS TSHZ1 ZNF518A MEF2D GMEB1 TBPL1 SLC2A12 GC06P133988
GH06I133977 Enhancer 0.8 dbSUPER 28.9 +26.5 26450 2.4 CLOCK MZF1 ZEB1 ZNF335 ZNF213 ZNF366 ZSCAN5C SCRT2 FOS SP3 TBPL1 SLC2A12 GC06P133988
GH06I133990 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.2 +39.2 39241 1.2 PKNOX1 JUN INSM2 ZNF384 CEBPG FEZF1 ZEB1 FOSL1 POLR2A PRDM10 TBPL1 SLC2A12 GC06P133988 LOC100421250
GH06I133887 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.5 -59.8 -59800 8.8 PKNOX1 NFIB BMI1 ZNF2 ZNF335 GLIS2 ZSCAN5C EGR2 ZNF398 ZFP69B TCF21 TARID TBPL1 SLC2A12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBPL1 gene promoter:

Genomic Locations for TBPL1 Gene

Genomic Locations for TBPL1 Gene
chr6:133,952,170-133,990,432
(GRCh38/hg38)
Size:
38,263 bases
Orientation:
Plus strand
chr6:134,273,308-134,311,570
(GRCh37/hg19)

Genomic View for TBPL1 Gene

Genes around TBPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBPL1 Gene

Proteins for TBPL1 Gene

  • Protein details for TBPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62380-TBPL1_HUMAN
    Recommended name:
    TATA box-binding protein-like protein 1
    Protein Accession:
    P62380
    Secondary Accessions:
    • A8K8F5
    • O95753
    • Q9BWD5
    • Q9Z2Z0

    Protein attributes for TBPL1 Gene

    Size:
    186 amino acids
    Molecular mass:
    20887 Da
    Quaternary structure:
    • Binds TFIIA and TFIIB.

neXtProt entry for TBPL1 Gene

Post-translational modifications for TBPL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TBPL1 Gene

Domains & Families for TBPL1 Gene

Gene Families for TBPL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TBPL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBPL1 Gene

Graphical View of Domain Structure for InterPro Entry

P62380

UniProtKB/Swiss-Prot:

TBPL1_HUMAN :
  • Belongs to the TBP family.
Family:
  • Belongs to the TBP family.
genes like me logo Genes that share domains with TBPL1: view

Function for TBPL1 Gene

Molecular function for TBPL1 Gene

GENATLAS Biochemistry:
TATA box protein (TBP)-like 1,component of the RNA polymerase II (POLR*),transcription apparatus,binding GTF2A,GTF2B,not binding directly canonical TATA boxes
UniProtKB/Swiss-Prot Function:
Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5-TCT-3 motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box.

Phenotypes From GWAS Catalog for TBPL1 Gene

Gene Ontology (GO) - Molecular Function for TBPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15767669
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 15767669
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity TAS 10220372
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TBPL1: view
genes like me logo Genes that share phenotypes with TBPL1: view

Animal Models for TBPL1 Gene

MGI Knock Outs for TBPL1:

Animal Model Products

miRNA for TBPL1 Gene

miRTarBase miRNAs that target TBPL1

Clone Products

  • Addgene plasmids for TBPL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TBPL1 Gene

Localization for TBPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBPL1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBPL1 gene
Compartment Confidence
nucleus 3
cytosol 3
lysosome 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005672 transcription factor TFIIA complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TBPL1: view

Pathways & Interactions for TBPL1 Gene

genes like me logo Genes that share pathways with TBPL1: view

Gene Ontology (GO) - Biological Process for TBPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0006235 dTTP biosynthetic process IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006352 DNA-templated transcription, initiation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with TBPL1: view

No data available for SIGNOR curated interactions for TBPL1 Gene

Drugs & Compounds for TBPL1 Gene

No Compound Related Data Available

Transcripts for TBPL1 Gene

Unigene Clusters for TBPL1 Gene

TBP-like 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for TBPL1

Alternative Splicing Database (ASD) splice patterns (SP) for TBPL1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: -
SP5: -

Relevant External Links for TBPL1 Gene

GeneLoc Exon Structure for
TBPL1
ECgene alternative splicing isoforms for
TBPL1

Expression for TBPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBPL1 Gene

This gene is overexpressed in Testis (x6.3).

Protein differential expression in normal tissues from HIPED for TBPL1 Gene

This gene is overexpressed in Testis (14.5), Peripheral blood mononuclear cells (10.1), and Frontal cortex (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBPL1 Gene



Protein tissue co-expression partners for TBPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBPL1 Gene:

TBPL1

SOURCE GeneReport for Unigene cluster for TBPL1 Gene:

Hs.486507

mRNA Expression by UniProt/SwissProt for TBPL1 Gene:

P62380-TBPL1_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in the testis and ovary.

Evidence on tissue expression from TISSUES for TBPL1 Gene

  • Lung(4.2)
  • Eye(4.1)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with TBPL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TBPL1 Gene

Orthologs for TBPL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBPL1 33 34
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia TBPL1 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBPL1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBPL1 33 34
  • 97.13 (n)
-- 34
  • 85 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TBPL1 33 34
  • 96.77 (n)
mouse
(Mus musculus)
Mammalia Tbpl1 33 16 34
  • 94.27 (n)
rat
(Rattus norvegicus)
Mammalia Tbpl1 33
  • 94.27 (n)
chicken
(Gallus gallus)
Aves TBPL1 33 34
  • 88.89 (n)
lizard
(Anolis carolinensis)
Reptilia TBPL1 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbpl1 33
  • 79.03 (n)
Str.4573 33
African clawed frog
(Xenopus laevis)
Amphibia TLF 33
zebrafish
(Danio rerio)
Actinopterygii tbpl1 33 34
  • 71.35 (n)
rps9 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007517 33
  • 55.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta Trf2 35 34
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea tlf-1 33 34
  • 49.26 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT15 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2563 34
  • 34 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3079 33
Species where no ortholog for TBPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBPL1 Gene

ENSEMBL:
Gene Tree for TBPL1 (if available)
TreeFam:
Gene Tree for TBPL1 (if available)

Paralogs for TBPL1 Gene

Paralogs for TBPL1 Gene

(2) SIMAP similar genes for TBPL1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for TBPL1 Gene

genes like me logo Genes that share paralogs with TBPL1: view

Variants for TBPL1 Gene

Sequence variations from dbSNP and Humsavar for TBPL1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000023863 -- 133,959,329(+) G/A intron_variant
rs1000068185 -- 133,968,621(+) C/T intron_variant
rs1000185644 -- 133,974,562(+) C/T intron_variant
rs1000196692 -- 133,971,894(+) G/A intron_variant
rs1000332130 -- 133,971,625(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBPL1 Gene

Variant ID Type Subtype PubMed ID
nsv507364 OTHER sequence alteration 20534489
esv3571405 CNV loss 25503493
esv34122 CNV loss 18971310
esv2441837 CNV deletion 19546169
dgv1832e212 CNV loss 25503493
dgv1831e212 CNV loss 25503493

Variation tolerance for TBPL1 Gene

Residual Variation Intolerance Score: 57.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBPL1 Gene

Disorders for TBPL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBPL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards
Search TBPL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TBPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBPL1 Gene

Publications for TBPL1 Gene

  1. 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. (PMID: 15767669) Chong JA … Clapham DE (Molecular and cellular biology 2005) 2 3 4 22 58
  2. Isolation of cDNA, chromosome mapping, and expression of the human TBP-like protein. (PMID: 10082669) Ohbayashi T … Tamura T (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  3. TATA box-binding protein (TBP)-related factor 2 (TRF2), a third member of the TBP family. (PMID: 10220372) Rabenstein MD … Tjian R (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 58
  4. Identification of potentially damaging amino acid substitutions leading to human male infertility. (PMID: 19369647) Kuzmin A … Varmuza S (Biology of reproduction 2009) 3 44 58
  5. TATA-binding Protein (TBP)-like Protein Is Engaged in Etoposide-induced Apoptosis through Transcriptional Activation of Human TAp63 Gene. (PMID: 19858204) Suenaga Y … Tamura TA (The Journal of biological chemistry 2009) 3 22 58

Products for TBPL1 Gene

Sources for TBPL1 Gene

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