• Gene id: 9519

Gene Summary

• Gene Symbol: TBPL1   Gene   UCSC   Ensembl
• Aliases: MGC:8389, MGC:9620, STUD, TLF, TLP, TRF2
• Gene name: TATA-box binding protein like 1
• Alternate names: TATA box-binding protein-like protein 1, 21-kDA TBP-like protein, TATA box-binding protein-related factor 2, TBP-like 1, TBP-related factor 2, TBP-related protein, second TBP of unique DNA protein,
• Gene location: 6q23.2 (133952169: 133987499)     Exons: 9     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the
• OMIM: 605521

Protein Summary

• Protein general information: P62380  
  • Name: TATA box binding protein like protein 1 (TBP like protein 1) (21 kDa TBP like protein) (Second TBP of unique DNA protein) (STUD) (TATA box binding protein related factor 2) (TBP related factor 2) (TBP like factor) (TBP related protein)
  • Length: 186  
  • Mass: 20,887
• Sequence:

  MDADSDVALDILITNVVCVFRTRCHLNLRKIALEGANVIYKRDVGKVLMKLRKPRITATIWSSGKIICTGATSEE
  EAKFGARRLARSLQKLGFQVIFTDFKVVNVLAVCNMPFEIRLPEFTKNNRPHASYEPELHPAVCYRIKSLRATLQ
  IFSTGSITVTGPNVKAVATAVEQIYPFVFESRKEIL

• Structural information:
  • Interpro: IPR000814  IPR015445  IPR012295  
  • CDD: cd04517
  • STRING: ENSP00000237264
• Other Databases: GeneCards:  TBPL1  Malacards:  TBPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001675	acrosome assembly	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005672	transcription factor TFIIA complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006235	dTTP biosynthetic process	IEA	biological process
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0001675	acrosome assembly	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005672	transcription factor TFIIA complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006235	dTTP biosynthetic process	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05203	Viral carcinogenesis
hsa05016	Huntington disease
hsa05166	Human T-cell leukemia virus 1 infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Azoospermia	MIK: 19369647
Male factor infertility	MIK: 19369647
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Spermatogenic defects	MIK: 11861477
Male infertility	MIK: 19369647
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19369647	Male infertility	SBF1 (T5A, F75L, E335K, K486E, R1059K, A1119V, L1693V), LIMK2 (G35S, D45N, R213C, P296R, R418C), LIPE(Y100H, Q127H, P146S, S177T, A194V, R217Q, R217L, K497N, N499H, R611C, G742R, R938S)		78 infertile men	Male infertility	SBF1 LIMK2 LIPE TBPL1
11861477	Defective acrosome formation in early stage spermatids				Male infertility
11463376	Essential for spermiogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray