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Aliases for POLR1C Gene

Aliases for POLR1C Gene

  • RNA Polymerase I Subunit C 2 3 5
  • 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
  • RPA39 3 4
  • RPA40 3 4
  • RPC40 3 4
  • AC40 3 4
  • DNA-Directed RNA Polymerases I And III Subunit RPAC1 3
  • Polymerase (RNA) I Subunit C 3
  • 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 (RNA Polymerase 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 Innate Immune System and RNA Polymerase III Transcription Initiation. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G043261 1.6 FANTOM5 ENCODE dbSUPER 10.9 -247.3 -247337 1.4 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 DNPH1 SLC22A7 ZNF318 CRIP3 RPL12P47 DLK2 ENSG00000245261 CUL9 YIPF3 LRRC73
GH06G043390 1.5 Ensembl ENCODE dbSUPER 10.4 -117.3 -117250 3.5 HDGF PKNOX1 ARNT WRNIP1 E2F7 TCF12 ZNF766 GATA2 ZNF592 SMARCA4 ABCC10 RPL12P47 CRIP3 DLK2 TTBK1 DNPH1 POLR1C YIPF3 LRRC73 ZNF318
GH06G043382 1.4 Ensembl ENCODE dbSUPER 10.7 -125.8 -125844 2.7 TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 YBX1 ZBTB40 YY1 EGR1 RCOR1 SLC22A7 ABCC10 RPL12P47 CRIP3 DLK2 TTBK1 DNPH1 TJAP1 RNU6-1113P LRRC73
GH06G043486 1.1 dbSUPER 11.7 -22.5 -22506 1.1 PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 ZNF416 DLK2 POLR1C LRRC73 YIPF3 RPS2P29 ENSG00000252218 TTBK1 DNPH1 CUL9 GTPBP2
GH06G043334 1.1 Ensembl ENCODE 10.8 -174.4 -174417 1.8 ELF3 PKNOX1 ARID4B DMAP1 ZBTB40 ZSCAN9 RAD21 RFX5 SLC30A9 SCRT2 SLC22A7 CRIP3 RPL12P47 ZNF318 DLK2 POLR1C LRRC73 YIPF3 RPL34P14 GC06P043362
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000197145 398 1001 PKNOX1 AGO1 SIN3A ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143

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

Post-translational modifications for POLR1C Gene

  • Ubiquitination at Lys224
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR1C Gene

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:0001056 contributes_to RNA polymerase III activity IBA --
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed 5-3 RNA polymerase activity IEA,TAS 9540830
GO:0005515 protein binding IPI 16189514
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

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLR1C gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for POLR1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005666 DNA-directed RNA polymerase III complex IDA 24107381
GO:0005736 DNA-directed RNA polymerase I complex TAS,IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR1C: view

Pathways & Interactions 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:0006360 transcription from RNA polymerase I promoter TAS 9540830
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription 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

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8

(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

Drug Products

Transcripts for POLR1C Gene

Unigene Clusters for POLR1C Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for POLR1C Gene



Protein tissue co-expression partners for POLR1C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLR1C Gene:

POLR1C

SOURCE GeneReport for Unigene cluster for POLR1C Gene:

Hs.743509

Evidence on tissue expression from TISSUES for POLR1C Gene

  • Nervous system(4.5)
  • Blood(4.2)
  • Liver(3.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR1C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with POLR1C: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia POLR1C 34 35
  • 99.52 (n)
oppossum
(Monodelphis domestica)
Mammalia POLR1C 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLR1C 34 35
  • 90.94 (n)
cow
(Bos Taurus)
Mammalia POLR1C 34 35
  • 88.92 (n)
rat
(Rattus norvegicus)
Mammalia Polr1c 34
  • 86.71 (n)
mouse
(Mus musculus)
Mammalia Polr1c 34 16 35
  • 86.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POLR1C 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLR1C 34 35
  • 75.14 (n)
lizard
(Anolis carolinensis)
Reptilia POLR1C 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr1c 34
  • 68.58 (n)
zebrafish
(Danio rerio)
Actinopterygii polr1c 34 35
  • 68.79 (n)
zgc65973 34
fruit fly
(Drosophila melanogaster)
Insecta CG3756 34 35
  • 57.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012796 34
  • 57.46 (n)
worm
(Caenorhabditis elegans)
Secernentea H43I07.2 34
  • 52.09 (n)
rpac-40 35
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR031C 34
  • 52.94 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D14861g 34
  • 52.83 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC40 34 35 37
  • 52.04 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPAC43 34
  • 54.72 (n)
rice
(Oryza sativa)
Liliopsida Os03g0295400 34
  • 51.89 (n)
Os.18198 34
wheat
(Triticum aestivum)
Liliopsida Ta.4262 34
corn
(Zea mays)
Liliopsida Zm.6471 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02533 34
  • 54.23 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc40 34
  • 53.37 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5013 34
Species where no ortholog for POLR1C was found in the sources mined by GeneCards:
  • 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
rs141156009 Pathogenic, Treacher Collins syndrome 3 (TCS3) [MIM:248390] 43,520,961(+) ACCCC(C/T)GGCTG reference, missense
rs141471029 Uncertain significance, Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] 43,519,384(+) TTGAC(A/G)TGGTG reference, missense
rs191582628 Pathogenic, Treacher Collins syndrome 3 (TCS3) [MIM:248390] 43,520,962(+) CCCCC(A/G)GCTGG reference, missense
rs201320592 Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] 43,520,078(+) AGAAG(A/C/G)CACAG reference, missense
rs371802902 Pathogenic, Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] 43,519,412(+) TGCCA(A/G)TGCTT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv603000 CNV loss 21841781
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

Human Gene Mutation Database (HGMD)
POLR1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1C

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

Disorders for POLR1C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 11
  • hypomyelinating leukodystrophy 11
treacher collins syndrome 3
  • mandibulofacial dysostosis, treacher collins type, autosomal recessive
pol iii-related leukodystrophies
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
treacher collins syndrome 1
  • treacher collins syndrome
polr1c-related treacher collins syndrome
  • tcs3
- 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, ECO:0000269 PubMed:26151409}. 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 64
  2. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (PMID: 21131976) Dauwerse J.G. … Wieczorek D. (Nat. Genet. 2011) 3 4 64
  3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Rrn3 becomes inactivated in the process of ribosomal DNA transcription. (PMID: 12646563) Hirschler-Laszkiewicz I. … Rothblum L.I. (J. Biol. Chem. 2003) 3 22 64

Products for POLR1C Gene

Sources for POLR1C Gene

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