Gene Gene information from NCBI Gene database.
Entrez ID 11128
Gene name RNA polymerase III subunit A
Gene symbol POLR3A
Synonyms (NCBI Gene)
ADDHC160HLD7RPC1RPC155WDRTShRPC155
Chromosome 10
Chromosome location 10q22.3
Summary The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
SNPs SNP information provided by dbSNP.
59
SNP ID Visualize variation Clinical significance Consequence
rs138305578 T>C Likely-pathogenic Missense variant, coding sequence variant
rs141484643 C>A,G,T Pathogenic Splice donor variant
rs141659018 G>A Pathogenic, likely-pathogenic Stop gained, coding sequence variant
rs143422889 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs146253630 T>C Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
747
miRTarBase ID miRNA Experiments Reference
MIRT031770 hsa-miR-16-5p Proteomics 18668040
MIRT049495 hsa-miR-92a-3p CLASH 23622248
MIRT047708 hsa-miR-10a-5p CLASH 23622248
MIRT039125 hsa-miR-769-3p CLASH 23622248
MIRT645742 hsa-miR-483-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 34675218
GO:0000287 Function Magnesium ion binding IEA
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0002376 Process Immune system process IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614258 30074 ENSG00000148606
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14802
Protein name DNA-directed RNA polymerase III subunit RPC1 (RNA polymerase III subunit C1) (EC 2.7.7.6) (DNA-directed RNA polymerase III largest subunit) (DNA-directed RNA polymerase III subunit A) (RNA polymerase III 155 kDa subunit) (RPC155) (RNA polymerase III subun
Protein function Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at lea
PDB 7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04997 RNA_pol_Rpb1_1 12 356 RNA polymerase Rpb1, domain 1 Domain
PF00623 RNA_pol_Rpb1_2 358 525 RNA polymerase Rpb1, domain 2 Domain
PF04983 RNA_pol_Rpb1_3 528 703 RNA polymerase Rpb1, domain 3 Domain
PF05000 RNA_pol_Rpb1_4 728 834 RNA polymerase Rpb1, domain 4 Domain
PF04998 RNA_pol_Rpb1_5 841 1316 RNA polymerase Rpb1, domain 5 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, in the cortex and the white matter (at protein level). {ECO:0000269|PubMed:21855841}.
Sequence
MVKEQFRETDVAKKISHICFGMKSPEEMRQQAHIQVVSKNLYSQDNQHAPLLYGVLDHRM
GTSEKDRPCETCGKNLADCLGHYGYIDLELPCFHVGYFRAVIGILQMICKTCCHIMLSQE
EKKQFLDYLKRPGLTYLQKRGLKKKISDKCRKKNICHHCGAFNGTVKKCGLLKIIHEKYK
TNKKVVDPIVSNFLQSFETAIEHNKEVEPLLGRAQENLNPLVVLNLFKRIPAEDVPLLLM
NPEAGKPSDLILTRLLVPPLCIRPSVVSDLKSGTNEDDLTMKLTEIIFLNDVIKKHRISG
AKTQMIMEDWDFLQLQCALYINSELSGIPLNMAPKKWTRGFVQRLKGKQGRFRGNL
SGKR
VDFSGRTVISPDPNLRIDEVAVPVHVAKILTFPEKVNKANINFLRKLVQNGPEVHPGANF
IQQRHTQMKRFLKYGNREKMAQELKYGDIVERHLIDGDVVLFNRQPSLHKLSIMAHLARV
KPHRTFRFNECVCTPYNADFDGDEMNLHLPQTEEAKAEALVLMGT
KANLVTPRNGEPLIA
AIQDFLTGAYLLTLKDTFFDRAKACQIIASILVGKDEKIKVRLPPPTILKPVTLWTGKQI
FSVILRPSDDNPVRANLRTKGKQYCGKGEDLCANDSYVTIQNSELMSGSMDKGTLGSGSK
NNIFYILLRDWGQNEAADAMSRLARLAPVYLSNRGFSIGIGDV
TPGQGLLKAKYELLNAG
YKKCDEYIEALNTGKLQQQPGCTAEETLEALILKELSVIRDHAGSACLRELDKSNSPLTM
ALCGSKGSFINISQMIACVGQQAISGSRVPDGFENRSLPHFEKHSKLPAAKGFV
ANSFYS
GLTPTEFFFHTMAGREGLVDTAVKTAETGYMQRRLVKSLEDLCSQYDLTVRSSTGDIIQF
IYGGDGLDPAAMEGKDEPLEFKRVLDNIKAVFPCPSEPALSKNELILTTESIMKKSEFLC
CQDSFLQEIKKFIKGVSEKIKKTRDKYGINDNGTTEPRVLYQLDRITPTQVEKFLETCRD
KYMRAQMEPGSAVGALCAQSIGEPGTQMTLKTFHFAGVASMNITLGVPRIKEIINASKAI
STPIITAQLDKDDDADYARLVKGRIEKTLLGEISEYIEEVFLPDDCFILVKLSLERIRLL
RLEVNAETVRYSICTSKLRVKPGDVAVHGEAVVCVTPRENSKSSMYYVLQFLKEDLPKVV
VQGIPEVSRAVIHIDEQSGKEKYKLLVEGDNLRAVMATHGVKGTRTTSNNTYEVEKTLGI
EAARTTIINEIQYTMVNHGMSIDRRHVMLLSDLMTYKGEVLGITRFGLAKMKESVL
MLAS
FEKTADHLFDAAYFGQKDSVCGVSECIIMGIPMNIGTGLFKLLHKADRDPNPPKRPLIFD
TNEFHIPLVT
Sequence length 1390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA polymerase
Cytosolic DNA-sensing pathway
  Cytosolic sensors of pathogen-associated DNA
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
43
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Likely pathogenic; Pathogenic rs181087667 RCV005888663
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult onset hereditary spastic paraplegia Likely pathogenic; Pathogenic rs201314157 RCV005865330
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer Likely pathogenic; Pathogenic rs267608677 RCV005888662
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia Likely pathogenic; Pathogenic rs191875469, rs774007232 RCV005621962
RCV005622020
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, EARLY ONSET Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 22036171, 27029625 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 25339210, 28459997 Associate
★☆☆☆☆
Found in Text Mining only
Arnold Chiari Malformation Arnold-Chiari malformation HPO_DG
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type I Arnold-Chiari malformation HPO_DG
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 34296356 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 31940116 Associate
★☆☆☆☆
Found in Text Mining only