GTF2A1L (general transcription factor IIA subunit 1 like)

Gene

• Entrez ID: 11036
• Gene name: General transcription factor IIA subunit 1 like
• Gene symbol: GTF2A1L
• Synonyms (NCBI Gene): ALF
• Chromosome: 2
• Chromosome location: 2p16.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1549413	hsa-miR-4719	CLIP-seq
MIRT1549414	hsa-miR-513b	CLIP-seq
MIRT1549413	hsa-miR-4719	CLIP-seq
MIRT1549414	hsa-miR-513b	CLIP-seq
MIRT1549413	hsa-miR-4719	CLIP-seq
MIRT1549414	hsa-miR-513b	CLIP-seq
MIRT1549413	hsa-miR-4719	CLIP-seq
MIRT1549414	hsa-miR-513b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	10364255
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IEA
GO:0005672	Component	Transcription factor TFIIA complex	IBA
GO:0005672	Component	Transcription factor TFIIA complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	10364255
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0050890	Process	Cognition	IMP	23227193

Other IDs

• MIM: 605358
• HGNC: 30727
• e!Ensembl: ENSG00000242441

Protein

• UniProt ID: Q9UNN4
• Protein name: TFIIA-alpha and beta-like factor (General transcription factor II A, 1-like factor)
• Protein function: May function as a testis specific transcription factor. Binds DNA in conjunction with GTF2A2 and TBP (the TATA-binding protein) and together with GTF2A2, allows mRNA transcription.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03153	TFIIA	10 → 478	Transcription factor IIA, alpha/beta subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Testis specific. Detected in adult testis mostly in round and elongating spermatids (at protein level). Detected in testis. {ECO:0000269|PubMed:10364255, ECO:0000269|PubMed:16525715}.
• Sequence:

  MACLNPVPKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNS
  IQSPLFTLQLPHSLHQTLQSSTASLVIPAGRTLPSFTTAELGTSNSSANFTFPGYPIHVP
  AGVTLQTVSGHLYKVNVPIMVTETSGRAGILQHPIQQVFQQLGQPSVIQTSVPQLNPWSL
  QATTEKSQRIETVLQQPAILPSGPVDRKHLENATSDILVSPGNEHKIVPEALLCHQESSH
  YISLPGVVFSPQVSQTNSNVESVLSGSASMAQNLHDESLSTSPHGALHQHVTDIQLHILK
  NRMYGCDSVKQPRNIEEPSNIPVSEKDSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEE
  IGSTRDADENEFLGNIDGGDLKVPEEEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGD
  DVSEQDVPDLFDTDNVIVCQYDKIHRSKNKWKFYLKDGVMCFGGRDYVFAKAIGDAEW

• Sequence length: 478

Pathways

KEGG:

Basal transcription factors
Viral carcinogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations