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FLASH GENE

Symbol

TBPL1

contributors: mct - updated : 21-11-2018

HGNC name	TBP-like 1
HGNC id	11589

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	6q23.2      Physical location : 134.274.300 - 134.308.627
Synonym name	TBP related factor 2
	TATA box protein (TBP)-like 1
	21-kDA TBP-like protein
	second TBP of unique DNA
	TATA box-binding protein-related factor 2
	telomeric repeat binding factor 2
Synonym symbol(s)	TLP, STUD, TRF2, TLF, MGC:8389, MGC:9620

DNA

TYPE	functioning gene
STRUCTURE	34.33 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004865 7 - 1340 NP_004856 20.9 186 - 1999 10082669

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   lowly   liver         Nervous brain       highly Reproductive male system testis     highly   male system prostate       Respiratory lung       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Tbpl1
	homolog to Drosophila Trf2

Homologene

FAMILY

TBP family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	localized in the cytoplasm and is translocated to the nucleus by DNA-damaging agents

basic FUNCTION	serving the same function as TBP
	substituting for TBP at some promoters that are not recognized by TFIID
	believed to be important in expression of developmentally regulated genes
	may be involved in genotoxin-induced transcriptional regulation
	essential for progression in spermiogenesis and for the structuring of the chromocenter, an heterochromatic structure unique of round spermatids
	telomere-binding protein with roles in telomere protection and telomere-length regulation
	essential for progression in spermiogenesis and for the structuring of the chromocenter, an heterochromatic structure unique of round spermatids
	plays a central role in the protection of chromosome ends by inhibiting telomeres from initiating a DNA damage cascade
	inhibits likely myogenesis through downregulation of MYOG
	TBPL1 and TAF9 regulate fatty acid composition of several classes of phospholipids

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	transcription co-activator
	Spermiogenesis

PATHWAY

metabolism

signaling

a component	component of the RNA polymerase II (POLR*), transcription apparatus, binding GTF2A, GTF2B, not binding directly canonical TATA boxes
	form a complex with transcription factor IIA (GTF2A1)

INTERACTION

DNA

binding

RNA

small molecule

protein	binding to TFIIA and TFIIB
	binding to GTF2A and GTF2B
	SPATA24 interacting protein in testis
	TBPL1 represses the promoter activity of MYOG and the proximal AT-rich sequence of the MYOG promoter is responsible for TBPL1-mediated transcriptional repression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   increased expression is a potent oncogenic event that along with telomerase deficiency accelerates carcinogenesis, coincidental with a derepression of telomere recombination

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Tlf -/- mice