Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11128
Gene name Gene Name - the full gene name approved by the HGNC.
RNA polymerase III subunit A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POLR3A
Synonyms (NCBI Gene) Gene synonyms aliases
ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HLD7, WDRTS
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IEA
GO:0003899 Function DNA-directed 5'-3' RNA polymerase activity IBA 21873635
GO:0003899 Function DNA-directed 5'-3' RNA polymerase activity NAS 9331371
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614258 30074 ENSG00000148606
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Acanthosis nigricans Acanthosis Nigricans ClinVar
Otitis media Recurrent otitis media ClinVar
Spastic tetraparesis Spastic tetraparesis ClinVar
Hypogonadotropic Hypogonadism leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adrenal Insufficiency Associate 30898877
Agenesis of Corpus Callosum Associate 22036171, 27029625
Anodontia Associate 25339210, 28459997
Ataxia Associate 34296356
Atrial Tachyarrhythmia with Short PR Interval Associate 33085208
Atrophy Associate 31940116
Basal Ganglia Diseases Associate 31940116
Cerebellar Ataxia Associate 28459997, 38437768
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Associate 32982993
Cerebellar Diseases Associate 27029625, 34296356