• Gene id: 54457

Gene Summary

• Gene Symbol: TAF7L   Gene   UCSC   Ensembl
• Aliases: CT40, TAF2Q
• Gene name: TATA-box binding protein associated factor 7 like
• Alternate names: transcription initiation factor TFIID subunit 7-like, RNA polymerase II TBP-associated factor subunit Q, TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa, TATA box-binding protein-associated factor 50 kDa, TBP-associate,
• Gene location: Xq22.1 (101293070: 101268252)     Exons: 14     NC_000023.11
• Gene summary(Entrez): This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex
• OMIM: 300314

Protein Summary

• Protein general information: Q5H9L4  
  • Name: Transcription initiation factor TFIID subunit 7 like (Cancer/testis antigen 40) (CT40) (RNA polymerase II TBP associated factor subunit Q) (TATA box binding protein associated factor 50 kDa) (Transcription initiation factor TFIID 50 kDa subunit)
  • Length: 462  
  • Mass: 52,588
• Sequence:

  MECPEGQLPISSENDSTPTVSTSEVTSQQEPQILVDRGSETTYESSADIAGDEGTQIPADEDTQTDADSSAQAAA
  QAPENFQEGKDMSESQDEVPDEVENQFILRLPLEHACTVRNLARSQSVKMKDKLKIDLLPDGRHAVVEVEDVPLA
  AKLVDLPCVIESLRTLDKKTFYKTADISQMLVCTADGDIHLSPEEPAASTDPNIVRKKERGREEKCVWKHGITPP
  LKNVRKKRFRKTQKKVPDVKEMEKSSFTEYIESPDVENEVKRLLRSDAEAVSTRWEVIAEDGTKEIESQGSIPGF
  LISSGMSSHKQGHTSSEYDMLREMFSDSRSNNDDDEDEDDEDEDEDEDEDEDEDKEEEEEDCSEEYLERQLQAEF
  IESGQYRANEGTSSIVMEIQKQIEKKEKKLHKIQNKAQRQKDLIMKVENLTLKNHFQSVLEQLELQEKQKNEKLI
  SLQEQLQRFLKK

• Structural information:
  • Interpro: IPR037817  IPR006751  
  • CDD: cd08047
  • STRING: ENSP00000361998
• Other Databases: GeneCards:  TAF7L  Malacards:  TAF7L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005669	transcription factor TFIID complex	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0008150	biological_process	ND	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0035035	histone acetyltransferase binding	IBA	molecular function
GO:0044212	transcription regulatory region DNA binding	IBA	molecular function
GO:0051123	RNA polymerase II transcriptional preinitiation complex assembly	IBA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0005669	transcription factor TFIID complex	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0008150	biological_process	ND	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0035035	histone acetyltransferase binding	IBA	molecular function
GO:0044212	transcription regulatory region DNA binding	IBA	molecular function
GO:0051123	RNA polymerase II transcriptional preinitiation complex assembly	IBA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0005669	transcription factor TFIID complex	IBA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0008150	biological_process	ND	biological process
GO:0035035	histone acetyltransferase binding	IBA	molecular function
GO:0044212	transcription regulatory region DNA binding	IBA	molecular function
GO:0051123	RNA polymerase II transcriptional preinitiation complex assembly	IBA	biological process

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 17714218
Male factor infertility	MIK: 16597641
Male infertility	MIK: 16597641
May be implicated in X-linked oligozoospermia	MIK: 17242199
Spermatogenic defects	MIK: 17714218
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17714218	Spermatogenic failure	one each in exon 9 and 13 and one six-basepair deletion in exon 13		36 (16 infertile males with consistent, nonobstructive azoospermia, 20 controls)	Male infertility
16597641	Male infertility			25 patients with maturation arrest of spermatogenesis	Male infertility	TAF7L
17242199	May be implicated in X-linked oligozoospermia				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)