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Aliases for POLR1C Gene

Aliases for POLR1C Gene

  • Polymerase (RNA) I Subunit C 2 3
  • DNA-Directed RNA Polymerases I And III 40 KDa Polypeptide 3 4
  • Polymerase (RNA) I Polypeptide C, 30kDa 2 3
  • DNA-Directed RNA Polymerase I Subunit C 3 4
  • RNA Polymerases I And III Subunit AC1 3 4
  • Polymerase (RNA) I Polypeptide C 3 5
  • RPA39 3 4
  • RPA40 3 4
  • RPC40 3 4
  • AC40 3 4
  • POLR1E 4
  • HLD11 3
  • RPAC1 3
  • RPA5 3
  • TCS3 3

External Ids for POLR1C Gene

Previous GeneCards Identifiers for POLR1C Gene

  • GC06P043481
  • GC06P043531
  • GC06P043592
  • GC06P043202

Summaries for POLR1C Gene

Entrez Gene Summary for POLR1C Gene

  • The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for POLR1C Gene

POLR1C (Polymerase (RNA) I Subunit C) is a Protein Coding gene. Diseases associated with POLR1C include leukodystrophy, hypomyelinating, 11 and treacher collins syndrome 3. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and Epstein-Barr virus infection. GO annotations related to this gene include protein dimerization activity and RNA polymerase III activity.

UniProtKB/Swiss-Prot for POLR1C Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).

Gene Wiki entry for POLR1C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR1C Gene

Genomics for POLR1C Gene

Regulatory Elements for POLR1C Gene

Enhancers for POLR1C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POLR1C on UCSC Golden Path with GeneCards custom track

Promoters for POLR1C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLR1C on UCSC Golden Path with GeneCards custom track

Genomic Location for POLR1C Gene

Chromosome:
6
Start:
43,509,702 bp from pter
End:
43,550,984 bp from pter
Size:
41,283 bases
Orientation:
Plus strand

Genomic View for POLR1C Gene

Genes around POLR1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1C Gene

Proteins for POLR1C Gene

  • Protein details for POLR1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15160-RPAC1_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I and III subunit RPAC1
    Protein Accession:
    O15160
    Secondary Accessions:
    • O75395
    • Q5JTE3

    Protein attributes for POLR1C Gene

    Size:
    346 amino acids
    Molecular mass:
    39250 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) and RNA polymerase III (Pol III) complexes consisting of at least 13 and 17 subunits, respectively.

    Alternative splice isoforms for POLR1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR1C Gene

Proteomics data for POLR1C Gene at MOPED

Post-translational modifications for POLR1C Gene

  • Ubiquitination at Lys 224
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR1C Gene

Antibody Products

No data available for DME Specific Peptides for POLR1C Gene

Domains & Families for POLR1C Gene

Gene Families for POLR1C Gene

Graphical View of Domain Structure for InterPro Entry

O15160

UniProtKB/Swiss-Prot:

RPAC1_HUMAN :
  • Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family.
Family:
  • Belongs to the archaeal RpoD/eukaryotic RPB3 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR1C: view

Function for POLR1C Gene

Molecular function for POLR1C Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively. RPAC1 is part of the Pol core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity).

Gene Ontology (GO) - Molecular Function for POLR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001054 contributes_to RNA polymerase I activity IBA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with POLR1C: view
genes like me logo Genes that share phenotypes with POLR1C: view

Human Phenotype Ontology for POLR1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for POLR1C Gene

miRTarBase miRNAs that target POLR1C

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR1C Gene

Localization for POLR1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLR1C Gene COMPARTMENTS Subcellular localization image for POLR1C gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for POLR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR1C: view

Pathways & Interactions for POLR1C Gene

SuperPathways for POLR1C Gene

genes like me logo Genes that share pathways with POLR1C: view

Gene Ontology (GO) - Biological Process for POLR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006383 transcription from RNA polymerase III promoter IBA,TAS --
GO:0006385 transcription elongation from RNA polymerase III promoter TAS --
GO:0032481 positive regulation of type I interferon production TAS --
genes like me logo Genes that share ontologies with POLR1C: view

No data available for SIGNOR curated interactions for POLR1C Gene

Drugs & Compounds for POLR1C Gene

(15) Drugs for POLR1C Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Cytidine triphosphate Experimental Pharma 0
Diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental Pharma 0

(12) Additional Compounds for POLR1C Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2

(3) ApexBio Compounds for POLR1C Gene

Compound Action Cas Number
BMH-21 RNA polymerase I Inhibitior 896705-16-1
CX-5461 Pol I-mediated rRNA synthesis inhibitor 1138549-36-6
Foscarnet Sodium 63585-09-1
genes like me logo Genes that share compounds with POLR1C: view

Transcripts for POLR1C Gene

Unigene Clusters for POLR1C Gene

Polymerase (RNA) I polypeptide C, 30kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1C Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:

Relevant External Links for POLR1C Gene

GeneLoc Exon Structure for
POLR1C
ECgene alternative splicing isoforms for
POLR1C

Expression for POLR1C Gene

mRNA expression in normal human tissues for POLR1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLR1C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLR1C Gene



SOURCE GeneReport for Unigene cluster for POLR1C Gene Hs.743509

genes like me logo Genes that share expression patterns with POLR1C: view

Protein tissue co-expression partners for POLR1C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLR1C Gene

Orthologs for POLR1C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR1C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLR1C 35
  • 88.92 (n)
  • 97.11 (a)
POLR1C 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR1C 35
  • 90.94 (n)
  • 97.4 (a)
POLR1C 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr1c 35
  • 86.42 (n)
  • 93.93 (a)
Polr1c 16
Polr1c 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLR1C 35
  • 99.52 (n)
  • 100 (a)
POLR1C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polr1c 35
  • 86.71 (n)
  • 94.51 (a)
oppossum
(Monodelphis domestica)
Mammalia POLR1C 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR1C 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLR1C 35
  • 75.14 (n)
  • 82.37 (a)
POLR1C 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR1C 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr1c 35
  • 68.58 (n)
  • 74.52 (a)
zebrafish
(Danio rerio)
Actinopterygii polr1c 35
  • 68.79 (n)
  • 71.68 (a)
zgc65973 35
polr1c 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012796 35
  • 57.46 (n)
  • 53.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3756 35
  • 57.74 (n)
  • 54.84 (a)
CG3756 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea H43I07.2 35
  • 52.09 (n)
  • 50.15 (a)
rpac-40 36
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR031C 35
  • 52.94 (n)
  • 46.54 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D14861g 35
  • 52.83 (n)
  • 45.91 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC40 35
  • 52.04 (n)
  • 47.02 (a)
RPC40 36
  • 45 (a)
OneToOne
RPC40 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RPAC43 35
  • 54.72 (n)
  • 52.52 (a)
rice
(Oryza sativa)
Liliopsida Os.18198 35
Os03g0295400 35
  • 51.89 (n)
  • 46.48 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4262 35
corn
(Zea mays)
Liliopsida Zm.6471 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5013 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02533 35
  • 54.23 (n)
  • 47.4 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc40 35
  • 53.37 (n)
  • 51.03 (a)
Species with no ortholog for POLR1C:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for POLR1C Gene

ENSEMBL:
Gene Tree for POLR1C (if available)
TreeFam:
Gene Tree for POLR1C (if available)

Paralogs for POLR1C Gene

No data available for Paralogs for POLR1C Gene

Variants for POLR1C Gene

Sequence variations from dbSNP and Humsavar for POLR1C Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs191582628 Treacher Collins syndrome 3 (TCS3) 43,520,962(+) CCCCC(A/G)GCTGG reference, missense
VAR_064900 Treacher Collins syndrome 3 (TCS3)
VAR_074655 Leukodystrophy, hypomyelinating, 11 (HLD11)
VAR_074656 Leukodystrophy, hypomyelinating, 11 (HLD11)
VAR_074657 Leukodystrophy, hypomyelinating, 11 (HLD11)

Structural Variations from Database of Genomic Variants (DGV) for POLR1C Gene

Variant ID Type Subtype PubMed ID
dgv6841n71 CNV Loss 21882294
nsv818414 CNV Gain 17921354

Variation tolerance for POLR1C Gene

Residual Variation Intolerance Score: 43.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR1C Gene

HapMap Linkage Disequilibrium report
POLR1C
Human Gene Mutation Database (HGMD)
POLR1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1C Gene

Disorders for POLR1C Gene

MalaCards: The human disease database

(7) MalaCards diseases for POLR1C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 11
  • hld11
treacher collins syndrome 3
  • mandibulofacial dysostosis, treacher collins type, autosomal recessive
treacher collins syndrome 1
  • treacher collins syndrome
pol iii-related leukodystrophies
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
polr1c-related treacher collins syndrome
  • treacher collins syndrome 3
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RPAC1_HUMAN
  • Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494]: An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism. {ECO:0000269 PubMed:26151409}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Treacher Collins syndrome 3 (TCS3) [MIM:248390]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. {ECO:0000269 PubMed:21131976}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POLR1C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR1C
genes like me logo Genes that share disorders with POLR1C: view

No data available for Genatlas for POLR1C Gene

Publications for POLR1C Gene

  1. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. (PMID: 26151409) Thiffault I. … Bernard G. (Nat Commun 2015) 3 4 67
  2. Rrn3 becomes inactivated in the process of ribosomal DNA transcription. (PMID: 12646563) Hirschler-Laszkiewicz I. … Rothblum L.I. (J. Biol. Chem. 2003) 3 23
  3. A kinetic framework for a mammalian RNA polymerase in vivo. (PMID: 12446911) Dundr M. … Misteli T. (Science 2002) 2 3
  4. WRN helicase accelerates the transcription of ribosomal RNA as a component of an RNA polymerase I-associated complex. (PMID: 11971179) Shiratori M. … Matsumoto T. (Oncogene 2002) 3 23
  5. Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter. (PMID: 12393749) Yuan X. … Grummt I. (EMBO Rep. 2002) 3 23

Products for POLR1C Gene

Sources for POLR1C Gene

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