ADHDgene Database

Gene Report

Basic Info

Approved Symbol	TBPL1
Symbol Alias	TLP, STUD, TRF2, TLF
Approved Name	TBP-like 1
Location	6q22.1-q22.3
Position	chr6:134273308-134308637, +
External Links	HGNC: 11589 Entrez Gene: 9519 Ensembl: ENSG00000028839 UCSC: uc003qel.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
6q22-23	chr6:114600000-139000000	1 (1/0/0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003677	DNA binding	Molecular Function		220
GO:0003713	transcription coactivator activity	Molecular Function	TAS[10220372]	52
GO:0001675	acrosome assembly	Biological Process		3
GO:0006235	dTTP biosynthetic process	Biological Process		1
GO:0006352	DNA-dependent transcription, initiation	Biological Process		8
GO:0005672	transcription factor TFIIA complex	Cellular Component		1
GO:0005737	cytoplasm	Cellular Component		690
GO:0007289	spermatid nucleus differentiation	Biological Process		3
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	TAS[10220372]	62

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03022	Basal transcription factors	6
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...

Genes shared at least 5 GO terms with TBPL1 (count: 0)

Genes shared at least 2 KEGG pathways with TBPL1 (count: 1)

Gene Symbol	Pathway Count	Pathway List
TAF4B	2	Basal transcription factors; Huntington's disease;

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Region: chr6:134273308..134308637 View in gBrowse