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FLASH GENE
Symbol POLR1D contributors: npt/mct - updated : 19-01-2010
HGNC name polymerase (RNA) 1 polypeptide D, 16kDa
HGNC id 20422
Corresponding disease
TCSPD Treacher Collins syndrome, POLR1D related
Location 13q12.2      Physical location : 28.196.002 - 28.241.547
Synonym name
  • RNA polymerases I and III subunit AC2
  • DNA-directed RNA polymerase I subunit D
    • Synonym symbol(s) RPAC2, RPA16, RPO1-3, RPA9, MGC9850, FLJ20616, POLR1C, RPO1-3, RPA19
    EC.number 2.7.7.6
    DNA
    TYPE functioning gene
    STRUCTURE 45.55 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    CENPJ 13q12.13 centromere protein J LOC387913 13 similar to TPTE and PTEN homologous inositol lipid phosphatase LOC390387 13 similar to Striatin PABPC3 13q11-q12 poly(A) binding protein, cytoplasmic 3 FLJ25477 13q12.13 hypothetical protein FLJ25477 MTMR6 13q12 myotubularin related protein 6 NUPL1 13q12.12 nucleoporin like 1 LOC246717 13q12 transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B) pseudogene ATP8A2 13q12-13 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2 LOC387914 13 similar to WGAR9166 RNF6 13q12 ring finger protein (C3H2C3 type) 6 CDK8 13q12 cyclin-dependent kinase 8 WASF3 13q12 WAS protein family, member 3 LOC390389 13 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 GPR12 13q12 G protein-coupled receptor 12 USP12 5q33-q34 ubiquitin specific protease 12 RPL21 13pter-p13 ribosomal protein L21 LOC254109 13q12.2 similar to MGC53580 protein GTF3A 13q12.3-q13.1 general transcription factor IIIA MTIF3 13q12.2 mitochondrial translational initiation factor 3 PDZRN1 13q12.2 PDZ domain containing ring finger 1 MGC9850 13q12.2 hypothetical protein MGC9850 POLR1D 13q12.2 polymerase (RNA) 1 polypeptide D, 16kDa GSH1 13q12.13 GS homeobox 1 IPF1 13q12.1 insulin promoter factor 1, homeodomain transcription factor LOC387915 13 hypothetical gene supported by AK000246 CDX2 13q12-q13 caudal type homeo box transcription factor 2 FLT3 13q12 fms-related tyrosine kinase 3 LOC390390 13 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein LOC390391 13 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) PAN3 13q12.2 PABP1-dependent poly A-specific ribonuclease subunit PAN3 FLT1 13q12 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) LOC341784 13q12.3 similar to eukaryotic translation initiation factor 4A1; initiation factor eIF-4A long form C13orf12 13q12.13 chromosome 13 open reading frame 12 LOC283537 13q12.3 hypothetical protein LOC283537 CYP51P2 13 hypothetical protein LOC283537 KIAA0774 13q12.13-q12.2 hypothetical protein LOC283537 SLC7A1 13q12.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 UBL3 13q12-q13 ubiquitin-like 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 725 - 133 - Hu (2002)
    3 - 1977 - 122 - Hu (2002)
    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 yeasrAC40
    Homologene
    FAMILY
  • archaeal rpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • biosynthesis ot rRNA
  • may play a role for the kidney aging (Wheeler 2009)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
  • component of the multisubunit complex of eukaryotic nuclear RNA polymerase producing ribosomal RNA
  • binding to ribosomal genes in association with the C subunit
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein interacting with MAF1 (MAF1 is a major regulator of pol III and POLR1D transcription in human cells) (Reina 2006)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCSPD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS