Tata Box-Binding Protein-Associated Factor 1A

Alternative Names

TAF1A
TBP-Associated Factor, RNA Polymerase I, 48-kD
TAFI48
SL1, 48-kD Subunit

Length

35,829 bases

No. of Exons

No. of isoforms

Protein Name

TATA box-binding protein-associated factor RNA polymerase I subunit A

Molecular Mass

52676 Da

Amino Acid Count

450

Genomic Location

chr1:222,554,105-222,589,933

Gene Map Locus

1q41

Description

This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001201536.1:c.40_41del	Saudi Arabia	NC_000001.11:g.222588524_222588525del		Pathogenic	TAF1A Associated Cataract	NM_001201536.1:c.40_41del; NP_001188465.1:p.Asp14Ter

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=TAF1A

Contributors

Sayeeda Hana: 27.03.2023

Edit History

Sayeeda Hana: 27.03.2023

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