• Gene id: 11036

Gene Summary

• Gene Symbol: GTF2A1L   Gene   UCSC   Ensembl
• Aliases: ALF
• Gene name: general transcription factor IIA subunit 1 like
• Alternate names: TFIIA-alpha and beta-like factor, GTF2A1-like factor, TFIIA large subunit isoform ALF, TFIIA-alpha/beta-like factor, general transcription factor II A, 1-like factor, general transcription factor IIA 1-like, testis secretory sperm-binding protein Li 230m,
• Gene location: 2p16.3 (48617779: 48679608)     Exons: 9     NC_000002.12
• Gene summary(Entrez): The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes
• OMIM: 605358

SNPs

rs8191246

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.82098435A>G
NC_000016.9   g.82132040A>G
NM_002153.3   c.1163A>G
NM_002153.2   c.1163A>G
XR_001751898.2   n.1381A>G
NP_002144.1   p.Ter388Trp|SEQ=[A/G]|GENE=HSD17B2

Protein Summary

• Protein general information: Q9UNN4  
  • Name: TFIIA alpha and beta like factor (General transcription factor II A, 1 like factor)
  • Length: 478  
  • Mass: 52,444
• Sequence:

  MACLNPVPKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLH
  QTLQSSTASLVIPAGRTLPSFTTAELGTSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVPIMVTETSGRAGI
  LQHPIQQVFQQLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQPAILPSGPVDRKHLENATSDILVSPGNEH
  KIVPEALLCHQESSHYISLPGVVFSPQVSQTNSNVESVLSGSASMAQNLHDESLSTSPHGALHQHVTDIQLHILK
  NRMYGCDSVKQPRNIEEPSNIPVSEKDSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADENEFLGN
  IDGGDLKVPEEEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGDDVSEQDVPDLFDTDNVIVCQYDKIHRSKNK
  WKFYLKDGVMCFGGRDYVFAKAIGDAEW

• Structural information:
  • Interpro: IPR004855  IPR009088  
  • CDD: cd07976
  • STRING: ENSP00000384597
• Other Databases: GeneCards:  GTF2A1L  Malacards:  GTF2A1L

Gene ontology

GO accession	Term name	Evidence code	Go category
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	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	IEA	biological process
GO:0050890	cognition	IMP	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: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:0005672	transcription factor TFIIA complex	IEA	cellular component
GO:0005672	transcription factor TFIIA complex	IBA	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:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	IEA	biological process
GO:0050890	cognition	IMP	biological process
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005672	transcription factor TFIIA complex	IBA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0050890	cognition	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05203	Viral carcinogenesis

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 25374392
Male factor infertility	MIK: 25374392
Non-obstruction azoospermia (NOA)	MIK: 25374392
Spermatogenic defects	MIK: 31037746
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25374392	Non-obstruction azoospermia (NOA)	USF1 (rs1556259, rs2516838, and rs2774276), OR2W3 (rs11204546), GTF2A1L (rs11677854)	Chinese Han	729 (361 NOA cases, 368 controls)	Male infertility	USF1  GTF2A1L and OR2W3
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray