POLR1G (RNA polymerase I subunit G)

Gene

• Entrez ID: 10849
• Gene name: RNA polymerase I subunit G
• Gene symbol: POLR1G
• Synonyms (NCBI Gene): ASE-1, ASE1, CAST, CD3EAP, PAF49, RPA34
• Chromosome: 19
• Chromosome location: 19q13.32

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000120	Component	RNA polymerase I transcription regulator complex	TAS	9426281
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	16809778
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	9426281
GO:0005736	Component	RNA polymerase I complex	IBA
GO:0005736	Component	RNA polymerase I complex	IDA	16809778, 34671025, 36271492
GO:0005736	Component	RNA polymerase I complex	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006360	Process	Transcription by RNA polymerase I	IEA
GO:0006361	Process	Transcription initiation at RNA polymerase I promoter	IDA	16809778
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	10373416
GO:0009303	Process	RRNA transcription	IEA
GO:0009303	Process	RRNA transcription	TAS	9426281

Other IDs

• MIM: 107325
• HGNC: 24219
• e!Ensembl: ENSG00000117877

Protein

• UniProt ID: O15446
• Protein name: DNA-directed RNA polymerase I subunit RPA34 (A34.5) (Antisense to ERCC-1 protein) (ASE-1) (CD3-epsilon-associated protein) (CD3E-associated protein) (DNA-directed RNA polymerase I subunit G) (RNA polymerase I-associated factor PAF49)
• Protein function: Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Involved in UBTF-activated transcription, presumably at a step following
• PDB: 7OB9, 7OBA, 7OBB, 7VBA, 7VBB, 7VBC, 8A43
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08208	RNA_polI_A34	37 → 255	DNA-directed RNA polymerase I subunit RPA34.5	Family

• Sequence:

  MEEPQAGDAARFSCPPNFTAKPPASESPRFSLEALTGPDTELWLIQAPADFAPECFNGRH
  VPLSGSQIVKGKLAGKRHRYRVLSSCPQAGEATLLAPSTEAGGGLTCASAPQGTLRILEG
  PQQSLSGSPLQPIPASPPPQIPPGLRPRFCAFGGNPPVTGPRSALAPNLLTSGKKKKEMQ
  VTEAPVTQEAVNGHGALEVDMALGSPEMDVRKKKKKKNQQLKEPEAAGPVGTEPTVETLE
  PLGVLFPSTTKKRKKPKGKETFEPEDKTVKQEQINTEPLEDTVLSPTKKRKRQKGTEGME
  PEEGVTVESQPQVKVEPLEEAIPLPPTKKRKKEKGQMAMMEPGTEAMEPVEPEMKPLESP
  GGTMAPQQPEGAKPQAQAALAAPKKKTKKEKQQDATVEPETEVVGPELPDDLEPQAAPTS
  TKKKKKKKERGHTVTEPIQPLEPELPGEGQPEARATPGSTKKRKKQSQESRMPETVPQEE
  MPGPPLNSESGEEAPTGRDKKRKQQQQQPV

• Sequence length: 510

Pathways

KEGG:

RNA polymerase

Reactome:

B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	LHGDN	16817948		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16817948		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18289367		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16690207, 18289367, 22335888, 23624123, 24140460, 25917613, 26563375, 27183913, 28870783, 29108262, 30128886, 30453383		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15936590		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32727492	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16817948, 18289367		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32727492	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26563375, 27183913, 30453383, 35351459, 37147350	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11199923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18289367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16690207, 18289367, 22335888, 23624123, 24140460, 25917613, 26563375, 27183913, 28870783, 29108262, 30128886, 30453383		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23624123		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17131345, 21046104		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32727492	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23775331, 29108262, 29620255		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	29093733		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	BEFREE	26681190		★☆☆☆☆ Found in Text Mining only