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Aliases for POLR1D Gene

Aliases for POLR1D Gene

  • Polymerase (RNA) I Polypeptide D, 16kDa 2 3
  • RPA16 3 4 6
  • DNA-Directed RNA Polymerase I Subunit D 3 4
  • RNA Polymerases I And III Subunit AC2 3 4
  • RPAC2 3 6
  • RPC16 3 4
  • TCS2 3 6
  • AC19 3 4
  • DNA-Directed RNA Polymerases I And III Subunit RPAC2 3
  • RNA Polymerase I 16 KDa Subunit 4
  • POLR1C 3
  • RPO1-3 3
  • HRPA19 4
  • RPA9 3

External Ids for POLR1D Gene

Previous GeneCards Identifiers for POLR1D Gene

  • GC13P022176
  • GC13P027125
  • GC13P025994
  • GC13P025993
  • GC13P027093
  • GC13P028194
  • GC13P009017

Summaries for POLR1D Gene

Entrez Gene Summary for POLR1D Gene

  • The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

GeneCards Summary for POLR1D Gene

POLR1D (Polymerase (RNA) I Polypeptide D, 16kDa) is a Protein Coding gene. Diseases associated with POLR1D include treacher collins syndrome 2 and polr1d-related treacher collins syndrome. Among its related pathways are Epstein-Barr virus infection and Metabolism. GO annotations related to this gene include protein dimerization activity and RNA polymerase III activity.

UniProtKB/Swiss-Prot for POLR1D Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively

Gene Wiki entry for POLR1D Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR1D Gene

Genomics for POLR1D Gene

Regulatory Elements for POLR1D Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POLR1D Gene

Start:
27,620,743 bp from pter
End:
27,667,422 bp from pter
Size:
46,680 bases
Orientation:
Plus strand

Genomic View for POLR1D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLR1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1D Gene

Proteins for POLR1D Gene

  • Protein details for POLR1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2S0-RPAC2_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I and III subunit RPAC2
    Protein Accession:
    Q9Y2S0
    Secondary Accessions:
    • Q5TBX2
    • Q96BR3

    Protein attributes for POLR1D Gene

    Size:
    133 amino acids
    Molecular mass:
    15237 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 POLR1D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR1D Gene

Proteomics data for POLR1D Gene at MOPED

Post-translational modifications for POLR1D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLR1D Gene

No data available for DME Specific Peptides for POLR1D Gene

Domains for POLR1D Gene

Gene Families for POLR1D Gene

HGNC:
  • POLR :RNA polymerase subunits

Protein Domains for POLR1D Gene

Suggested Antigen Peptide Sequences for POLR1D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2S0

UniProtKB/Swiss-Prot:

RPAC2_HUMAN :
  • Q9Y2S0
Family:
  • Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR1D: view

Function for POLR1D Gene

Molecular function for POLR1D Gene

UniProtKB/Swiss-Prot Function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common core component of RNA polymerases I and III which synthesize ribosomal RNA precursors and small RNAs, such as 5S rRNA and tRNAs, respectively

Gene Ontology (GO) - Molecular Function for POLR1D 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:0005515 protein binding IPI 16189514
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with POLR1D: view

Animal Model Products

CRISPR Products

miRNA for POLR1D Gene

miRTarBase miRNAs that target POLR1D

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for POLR1D Gene

Localization for POLR1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1D Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLR1D Gene COMPARTMENTS Subcellular localization image for POLR1D gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POLR1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005666 DNA-directed RNA polymerase III complex IBA --
GO:0005736 DNA-directed RNA polymerase I complex IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR1D: view

Pathways for POLR1D Gene

genes like me logo Genes that share pathways with POLR1D: view

Gene Ontology (GO) - Biological Process for POLR1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated --
GO:0006360 transcription from RNA polymerase I promoter TAS --
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 POLR1D: view

Compounds for POLR1D Gene

(6) HMDB Compounds for POLR1D Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4
Guanosine triphosphate
  • 5'-GTP
86-01-1
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with POLR1D: view

Transcripts for POLR1D Gene

Unigene Clusters for POLR1D Gene

Polymerase (RNA) I polypeptide D, 16kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLR1D

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1D Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP2: - - - - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for POLR1D Gene

GeneLoc Exon Structure for
POLR1D
ECgene alternative splicing isoforms for
POLR1D

Expression for POLR1D Gene

mRNA expression in normal human tissues for POLR1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLR1D Gene

SOURCE GeneReport for Unigene cluster for POLR1D Gene Hs.507584

genes like me logo Genes that share expressions with POLR1D: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLR1D Gene

Orthologs for POLR1D Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLR1D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR1D 35
  • 100 (n)
  • 100 (a)
POLR1D 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 94 (a)
OneToMany
POLR1D 35
  • 91.23 (n)
  • 94.74 (a)
POLR1D 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia POLR1D 35
  • 97.74 (n)
  • 98.5 (a)
POLR1D 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr1d 35
  • 92.48 (n)
  • 90.23 (a)
Polr1d 16
Polr1d 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLR1D 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLR1D 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLR1D 35
  • 74.69 (n)
  • 78.7 (a)
POLR1D 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR1D 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495369 35
  • 74.77 (n)
  • 78.5 (a)
zebrafish
(Danio rerio)
Actinopterygii polr1d 35
  • 67.27 (n)
  • 66.36 (a)
polr1d 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009644 35
  • 56.59 (n)
  • 45.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)37Cg 35
  • 54.51 (n)
  • 43.53 (a)
l(2)37Cg 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rpac-19 36
  • 26 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL220C 35
  • 55.45 (n)
  • 50.5 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC19 35
  • 55.46 (n)
  • 45.38 (a)
RPC19 36
  • 38 (a)
OneToOne
RPC19 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23760g 35
  • 59.06 (n)
  • 51.09 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00419 35
  • 54.96 (n)
  • 48.94 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpc19 35
  • 62.03 (n)
  • 58.23 (a)
Species with no ortholog for POLR1D:
  • 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)
  • corn (Zea mays)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLR1D Gene

ENSEMBL:
Gene Tree for POLR1D (if available)
TreeFam:
Gene Tree for POLR1D (if available)

Paralogs for POLR1D Gene

Selected SIMAP similar genes for POLR1D Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with POLR1D: view

No data available for Paralogs for POLR1D Gene

Variants for POLR1D Gene

Sequence variations from dbSNP and Humsavar for POLR1D Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs7097 -- 27,623,299(-) CATCA(A/G)GAAGA intron-variant, utr-variant-3-prime
rs8459 -- 27,623,280(+) ACTGT(A/C)CTGTA intron-variant, utr-variant-3-prime
rs9273 -- 27,667,150(+) GACAA(A/G)CCCAA utr-variant-3-prime
rs11029 -- 27,665,803(+) CCAGC(C/G)AAGAG synonymous-codon, reference
rs14105 -- 27,665,833(-) TTCTT(C/T)GGGTT synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for POLR1D Gene

Variant ID Type Subtype PubMed ID
nsv523599 CNV Loss 19592680

Relevant External Links for POLR1D Gene

HapMap Linkage Disequilibrium report
POLR1D
Human Gene Mutation Database (HGMD)
POLR1D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1D Gene

Disorders for POLR1D Gene

(1) OMIM Diseases for POLR1D Gene (613715)

UniProtKB/Swiss-Prot

RPAC2_HUMAN
  • Treacher Collins syndrome 2 (TCS2) [MIM:613717]: 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.

(1) University of Copenhagen DISEASES for POLR1D Gene

Relevant External Links for POLR1D

Genetic Association Database (GAD)
POLR1D
Human Genome Epidemiology (HuGE) Navigator
POLR1D
genes like me logo Genes that share disorders with POLR1D: view

Publications for POLR1D Gene

  1. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. (PMID: 12391170) Hu P. … Hernandez N. (Mol. Cell. Biol. 2002) 2 3 4
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4
  5. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 48

Products for POLR1D Gene

Sources for POLR1D Gene

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