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FLASH GENE

Symbol

TAF1A

contributors: mct - updated : 17-06-2020

HGNC name	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa
HGNC id	11532

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMDTAF1AD cardiomyopathy, dilated with TAF1A defieciency
Location	1q41      Physical location : 222.731.665 - 222.763.255
Synonym name	Selectivity Factor 1
	RNA polymerase I-specific TBP-associated factor 48 kDa
	TBP-associated factor 1A
	transcription factor SL1
	transcription initiation factor SL1/TIF-IB subunit A
Synonym symbol(s)	TAFI48, SL1, TAF(I)48, MGC:17061, RAFI48, SL1

DNA

TYPE	functioning gene
STRUCTURE	32.19 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005681 11 splicing 1910 NP_005672 - 450 - 2001 11250901 NM_139352 11 splicing 1796 NP_647603 - 336 - 2001 11250901 NM_001201536 12 - 1966 NP_001188465 - 450 - 2001 11250901

EXPRESSION

Type	restricted

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 mouth tongue         stomach         Lymphoid/Immune lymph node         Nervous brain         Reproductive female system uterus cervix

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Taf1a

Homologene

FAMILY

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus,nucleoplasm

basic FUNCTION	involved in the initiation of transcription by RNA polymerase 2
	initiation of transcription for ribosomal RNA (rRNA) by RNA polymerase I requires TBP and TBP-associated factors (TAF1A, TAF1B and TAF1C)
	TAF1A functions in recruitment of RNA polymerase I to ribosomal DNA promoters, the essential first step in ribosome biogenesis

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of SL1 (complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I), general transcription factor associated with POLR1, synthesis of 45S RNA precursors

INTERACTION

DNA

RNA

small molecule

protein	interacts with helix 2 of TBP
	TBP loading by AFF1 through TAF1A, TAF1B, TAF1C is the major rate-limiting step in MLL fusion-dependent transcription

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMDTAF1AD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS