Details for: POLR3A
Associated with
Other Information
Genular Protein ID: 1853517731
Symbol: RPC1_HUMAN
Name: DNA-directed RNA polymerase III subunit RPC1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9331371
Title: The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III.
PubMed ID: 9331371
DOI: 10.1101/gr.7.10.1006
PubMed ID: 15164054
Title: The DNA sequence and comparative analysis of human chromosome 10.
PubMed ID: 15164054
DOI: 10.1038/nature02462
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12384934
Title: Identification of an immunodominant epitope on RNA polymerase III recognized by systemic sclerosis sera: application to enzyme-linked immunosorbent assay.
PubMed ID: 12384934
DOI: 10.1002/art.10521
PubMed ID: 11416169
Title: Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2.
PubMed ID: 11416169
PubMed ID: 12391170
Title: Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits.
PubMed ID: 12391170
PubMed ID: 19631370
Title: RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway.
PubMed ID: 19631370
PubMed ID: 19609254
Title: RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate.
PubMed ID: 19609254
DOI: 10.1038/ni.1779
PubMed ID: 19608861
Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.
PubMed ID: 19608861
PubMed ID: 20413673
Title: Defining the RNA polymerase III transcriptome: Genome-wide localization of the RNA polymerase III transcription machinery in human cells.
PubMed ID: 20413673
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 35637192
Title: A cancer-associated RNA polymerase III identity drives robust transcription and expression of snaR-A non-coding RNA.
PubMed ID: 35637192
PubMed ID: 33335104
PubMed ID: 33674783
Title: Structure of human RNA polymerase III elongation complex.
PubMed ID: 33674783
PubMed ID: 34675218
Title: Structural insights into RNA polymerase III-mediated transcription termination through trapping poly-deoxythymidine.
PubMed ID: 34675218
PubMed ID: 33558764
Title: Cryo-EM structures of human RNA polymerase III in its unbound and transcribing states.
PubMed ID: 33558764
PubMed ID: 33558766
Title: Structural insights into transcriptional regulation of human RNA polymerase III.
PubMed ID: 33558766
PubMed ID: 21855841
Title: Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
PubMed ID: 21855841
PubMed ID: 22036171
Title: Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
PubMed ID: 22036171
PubMed ID: 23355746
Title: Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
PubMed ID: 23355746
PubMed ID: 23694757
Title: Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
PubMed ID: 23694757
PubMed ID: 27612211
Title: Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
PubMed ID: 27612211
DOI: 10.1002/ajmg.a.37960
PubMed ID: 30414627
Title: Bi-allelic POLR3A loss-of-function variants cause autosomal-recessive Wiedemann-Rautenstrauch syndrome.
PubMed ID: 30414627
PubMed ID: 30450527
Title: Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
PubMed ID: 30450527
PubMed ID: 30323018
Title: Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
PubMed ID: 30323018
Sequence Information:
- Length: 1390
- Mass: 155641
- Checksum: 56F30900848E3DB9
- Sequence:
MVKEQFRETD VAKKISHICF GMKSPEEMRQ QAHIQVVSKN LYSQDNQHAP LLYGVLDHRM GTSEKDRPCE TCGKNLADCL GHYGYIDLEL PCFHVGYFRA VIGILQMICK TCCHIMLSQE EKKQFLDYLK RPGLTYLQKR GLKKKISDKC RKKNICHHCG AFNGTVKKCG LLKIIHEKYK TNKKVVDPIV SNFLQSFETA IEHNKEVEPL LGRAQENLNP LVVLNLFKRI PAEDVPLLLM NPEAGKPSDL ILTRLLVPPL CIRPSVVSDL KSGTNEDDLT MKLTEIIFLN DVIKKHRISG AKTQMIMEDW DFLQLQCALY INSELSGIPL NMAPKKWTRG FVQRLKGKQG RFRGNLSGKR VDFSGRTVIS PDPNLRIDEV AVPVHVAKIL TFPEKVNKAN INFLRKLVQN GPEVHPGANF IQQRHTQMKR FLKYGNREKM AQELKYGDIV ERHLIDGDVV LFNRQPSLHK LSIMAHLARV KPHRTFRFNE CVCTPYNADF DGDEMNLHLP QTEEAKAEAL VLMGTKANLV TPRNGEPLIA AIQDFLTGAY LLTLKDTFFD RAKACQIIAS ILVGKDEKIK VRLPPPTILK PVTLWTGKQI FSVILRPSDD NPVRANLRTK GKQYCGKGED LCANDSYVTI QNSELMSGSM DKGTLGSGSK NNIFYILLRD WGQNEAADAM SRLARLAPVY LSNRGFSIGI GDVTPGQGLL KAKYELLNAG YKKCDEYIEA LNTGKLQQQP GCTAEETLEA LILKELSVIR DHAGSACLRE LDKSNSPLTM ALCGSKGSFI NISQMIACVG QQAISGSRVP DGFENRSLPH FEKHSKLPAA KGFVANSFYS GLTPTEFFFH TMAGREGLVD TAVKTAETGY MQRRLVKSLE DLCSQYDLTV RSSTGDIIQF IYGGDGLDPA AMEGKDEPLE FKRVLDNIKA VFPCPSEPAL SKNELILTTE SIMKKSEFLC CQDSFLQEIK KFIKGVSEKI KKTRDKYGIN DNGTTEPRVL YQLDRITPTQ VEKFLETCRD KYMRAQMEPG SAVGALCAQS IGEPGTQMTL KTFHFAGVAS MNITLGVPRI KEIINASKAI STPIITAQLD KDDDADYARL VKGRIEKTLL GEISEYIEEV FLPDDCFILV KLSLERIRLL RLEVNAETVR YSICTSKLRV KPGDVAVHGE AVVCVTPREN SKSSMYYVLQ FLKEDLPKVV VQGIPEVSRA VIHIDEQSGK EKYKLLVEGD NLRAVMATHG VKGTRTTSNN TYEVEKTLGI EAARTTIINE IQYTMVNHGM SIDRRHVMLL SDLMTYKGEV LGITRFGLAK MKESVLMLAS FEKTADHLFD AAYFGQKDSV CGVSECIIMG IPMNIGTGLF KLLHKADRDP NPPKRPLIFD TNEFHIPLVT
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.