POLR1H (RNA polymerase I subunit H)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 30834
Gene name RNA polymerase I subunit H
Gene symbol POLR1H
Synonyms (NCBI Gene)
A12.2HTEX-6HTEX6Rpa12TCTEX6TEX6ZNRD1ZR14hZR14tctex-6
Chromosome 6
Chromosome location 6p22.1
Summary This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency vir
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT736802 hsa-miR-26b-3p Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCR 31637871
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003899 Function DNA-directed RNA polymerase activity IBA
GO:0003899 Function DNA-directed RNA polymerase activity IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607525 13182 ENSG00000066379
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P1U0
Protein name DNA-directed RNA polymerase I subunit RPA12 (DNA-directed RNA polymerase I subunit H) (Zinc ribbon domain-containing protein 1)
Protein function Core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Can mediate Pol I proofreading of the nascent RNA transcript. Anchor
PDB 7OB9 , 7OBA , 7OBB , 7VBA , 7VBB , 7VBC , 8A43
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01096 TFIIS_C 85 → 123 Transcription factor S-II (TFIIS) Domain
Sequence 
MSVMDLANTCSSFQSDLDFCSDCGSVLPLPGAQDTVTCIRCGFNINVRDFEGKVVKTSVV
FHQLGTAMPMSVEEGPECQGPVVDRRCPRCGHEGMAYHTRQMRSADEGQTVFYTCTNCKF
QEKEDS
Sequence length 126
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  RNA polymerase   B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (15)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (44)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15662122
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASDB_DG 23453885
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder GWASCAT_DG 23453885
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder GWASCAT_DG 23453885
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 32454947 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27166266, 31599404 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27286450 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27166266
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★★★★★
★☆☆☆☆
Found in Text Mining only