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FLASH GENE
Symbol POLR1C contributors: npt - updated : 03-12-2009
HGNC name polymerase(RNA)1 polypeptide C, 30kDa
HGNC id 20194
Corresponding disease
TCSPC Treacher Collins syndrome, POLR1C related
Location 6p21.1      Physical location : 43.484.790 - 43.497.114
Synonym name
  • DNA-directed RNA polymerase I subunit C
  • RNA polymerase I subunit
  • DNA-directed RNA polymerases I and III 40 kDa polypeptide
    • Synonym symbol(s) RPA5, RPA39, RPA40, RPA61, RPAC1, AC40, POLR1E, RPC40, RP3-337H4.4
    EC.number 2.7.7.6
    DNA
    TYPE functioning gene
    STRUCTURE 4.46 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389390 6 LOC389390 RPL24P4 6p21.1 ribosomal protein L24 pseudogene 4 GNMT 6p12 glycine N-methyltransferase PEX6 6p21.1 peroxisomal biogenesis factor 6 PPP2R5D 6p21.1 protein phosphatase 2, regulatory subunit B (B56), delta isoform MEA 6p21.3-p21.1 male-enhanced antigen KLHDC3 6p21.1 kelch domain containing 3 C6orf153 6p21.1 chromosome 6 open reading frame 153 KIAA0076 6p21.1 chromosome 6 open reading frame 153 MRPL2 6p21.3 mitochondrial ribosomal protein L2 KNSL8 6p21.1 kinesin-like 8 PTK7 6p21.1-p12.2 PTK7 protein tyrosine kinase 7 SRF 6p12.3 serum response factor (c-fos serum response element-binding transcription factor) PARC 6p21.1 p53-associated parkin-like cytoplasmic protein C6orf108 6p21.1 chromosome 6 open reading frame 108 TTBK1 6p21.1 tau tubulin kinase 1 SLC22A7 6p21.2-p21.1 solute carrier family 22 (organic anion transporter), member 7 LOC389391 6 similar to thymus LIM protein TLP-B ZNF318 6pter-p12.1 zinc finger protein 318 ABCC10 6p21.2-p21.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 EGFL9 6p21.1 EGF-like-domain, multiple 9 TJP4 6p12.3 tight junction protein 4 (peripheral) C6orf154 6p21.1 chromosome 6 open reading frame 154 C6orf109 6p21.1 chromosome 6 open reading frame 109 POLR1C 6p21.1 polymerase(RNA)1 polypeptide C, 30kDa XPO5 6p21.1 exportin 5 POLH 6p21.1-p12 polymerase (DNA directed), eta GTPBP2 6p21-p12 GTP binding protein 2 MAD2L1BP 6p21.1 MAD2L1 binding protein C6orf206 6p21.1 chromosome 6 open reading frame 205 MRPS18A 6p21.3 mitochondrial ribosomal protein S18A VEGF 6p12 vascular endothelial growth factor LOC389392 6 LOC389392 MGC45491 6p21.1 hypothetical protein MGC45491
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1138 - 342 - -
    9 - 1322 - 346 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to yeast AC40
    Homologene
    FAMILY
  • archaeal rpoD/eukaryotic RPB3 RNA polymerase subunit family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • biosynthesis of rRNA
  • DNA-directed RNA polymerase
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
  • component of the multisubunit complex of eukaryotic nuclear DNA directed RNA polymerase producing ribosomal RNA brought to ribosomal genes in association with the D subunit
    • INTERACTION
    DNA DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCSPC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS