• Gene id: 9015

Gene Summary

• Gene Symbol: TAF1A   Gene   UCSC   Ensembl
• Aliases: MGC:17061, RAFI48, SL1, TAFI48
• Gene name: TATA-box binding protein associated factor, RNA polymerase I subunit A
• Alternate names: TATA box-binding protein-associated factor RNA polymerase I subunit A, RNA polymerase I-specific TBP-associated factor 48 kDa, SL1, 48kD subunit, TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD, TATA box binding protein (TBP)-assoc,
• Gene location: 1q41 (222590095: 222557901)     Exons: 14     NC_000001.11
• Gene summary(Entrez): 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. Alternate splicin
• OMIM: 604903

Protein Summary

• Protein general information: Q15573  
  • Name: TATA box binding protein associated factor RNA polymerase I subunit A (RNA polymerase I specific TBP associated factor 48 kDa) (TAFI48) (TATA box binding protein associated factor 1A) (TBP associated factor 1A) (Transcription factor SL1) (Transcription in
  • Length: 450  
  • Mass: 52676
• Sequence:

  MSDFSEELKGPVTDDEEVETSVLSGAGMHFPWLQTYVETVAIGGKRRKDFAQTTSACLSFIQEALLKHQWQQAAE
  YMYSYFQTLEDSDSYKRQAAPEIIWKLGSEILFYHPKSNMESFNTFANRMKNIGVMNYLKISLQHALYLLHHGML
  KDAKRNLSEAETWRHGENTSSREILINLIQAYKGLLQYYTWSEKKMELSKLDKDDYAYNAVAQDVFNHSWKTSAN
  ISALIKIPGVWDPFVKSYVEMLEFYGDRDGAQEVLTNYAYDEKFPSNPNAHIYLYNFLKRQKAPRSKLISVLKIL
  YQIVPSHKLMLEFHTLLRKSEKEEHRKLGLEVLFGVLDFAGCTKNITAWKYLAKYLKNILMGNHLAWVQEEWNSR
  KNWWPGFHFSYFWAKSDWKEDTALACEKAFVAGLLLGKGCRYFRYILKQDHQILGKKIKRMKRSVKKYSIVNPRL

• Structural information:
  • Interpro: IPR016629  IPR039495  
  • STRING: ENSP00000339976
• Other Databases: GeneCards:  TAF1A  Malacards:  TAF1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0000120	RNA polymerase I transcription regulator complex	IEA	cellular component
GO:0006360	transcription by RNA polymerase I	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006360	transcription by RNA polymerase I	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0045815	positive regulation of gene expression, epigenetic	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881