Free for academic non-profit institutions. Other users need a Commercial license

Aliases for POLR1D Gene

Aliases for POLR1D Gene

  • Polymerase (RNA) I Subunit D 2 3
  • Polymerase (RNA) I Polypeptide D, 16kDa 2 3
  • DNA-Directed RNA Polymerase I Subunit D 3 4
  • RNA Polymerases I And III Subunit AC2 3 4
  • Polymerase (RNA) I Polypeptide D 3 5
  • RPA16 3 4
  • RPC16 3 4
  • AC19 3 4
  • RNA Polymerase I 16 KDa Subunit 4
  • POLR1C 3
  • RPO1-3 3
  • HRPA19 4
  • RPAC2 3
  • RPA9 3
  • TCS2 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 Subunit D) is a Protein Coding gene. Diseases associated with POLR1D include Treacher Collins Syndrome 2 and Treacher Collins Syndrome 1. Among its related pathways are RNA Polymerase III Transcription Initiation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include protein dimerization activity and RNA polymerase I 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

Enhancers for POLR1D 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 POLR1D on UCSC Golden Path with GeneCards custom track

Promoters for POLR1D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLR1D on UCSC Golden Path with GeneCards custom track

Genomic Location for POLR1D Gene

Chromosome:
13
Start:
27,620,742 bp from pter
End:
27,667,422 bp from pter
Size:
46,681 bases
Orientation:
Plus strand

Genomic View for POLR1D Gene

Genes around POLR1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

No data available for DME Specific Peptides for POLR1D Gene

Domains & Families for POLR1D Gene

Gene Families for POLR1D Gene

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 :
  • Belongs to the archaeal RpoL/eukaryotic RPB11/RPC19 RNA polymerase subunit family.
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:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with POLR1D: view
genes like me logo Genes that share phenotypes with POLR1D: view

Human Phenotype Ontology for POLR1D Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 5
golgi apparatus 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POLR1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with POLR1D: view

Pathways & Interactions for POLR1D Gene

SuperPathways 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 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 POLR1D: view

No data available for SIGNOR curated interactions for POLR1D Gene

Drugs & Compounds for POLR1D Gene

(8) Drugs for POLR1D Gene - From: ApexBio and HMDB

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

(1) Additional Compounds for POLR1D Gene - From: 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 POLR1D 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 POLR1D: view

Transcripts for POLR1D Gene

Unigene Clusters for POLR1D Gene

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

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

Protein differential expression in normal tissues from HIPED for POLR1D Gene

This gene is overexpressed in Islet of Langerhans (12.9), Peripheral blood mononuclear cells (12.8), Retina (6.7), Adrenal (6.5), and CD4 Tcells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POLR1D: view

Protein tissue co-expression partners for POLR1D Gene

- Elite partner

Primer 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
cow
(Bos Taurus)
Mammalia POLR1D 35
  • 91.23 (n)
  • 94.74 (a)
-- 36
  • 94 (a)
OneToMany
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
chimpanzee
(Pan troglodytes)
Mammalia POLR1D 35
  • 100 (n)
  • 100 (a)
POLR1D 36
  • 100 (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)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23760g 35
  • 59.06 (n)
  • 51.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPC19 35
  • 55.46 (n)
  • 45.38 (a)
RPC19 36
  • 38 (a)
OneToOne
RPC19 38
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

(4) 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
VAR_064892 Treacher Collins syndrome 2 (TCS2)
VAR_064893 Treacher Collins syndrome 2 (TCS2)
VAR_064894 Treacher Collins syndrome 2 (TCS2)
VAR_064895 Treacher Collins syndrome 2 (TCS2)
VAR_064896 Treacher Collins syndrome 2 (TCS2)

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

Variant ID Type Subtype PubMed ID
nsv523599 CNV Loss 19592680

Variation tolerance for POLR1D Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR1D Gene

Human Gene Mutation Database (HGMD)
POLR1D

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

Disorders for POLR1D Gene

MalaCards: The human disease database

(3) MalaCards diseases for POLR1D Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
treacher collins syndrome 2
  • tcs2
treacher collins syndrome 1
  • treacher collins syndrome
polr1d-related treacher collins syndrome
  • treacher collins syndrome 2
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for POLR1D

Genetic Association Database (GAD)
POLR1D
Human Genome Epidemiology (HuGE) Navigator
POLR1D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR1D
genes like me logo Genes that share disorders with POLR1D: view

No data available for Genatlas for POLR1D Gene

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 67
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3
  3. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. (PMID: 25348728) Giampietro P.F. … Broeckel U. (Am. J. Med. Genet. A 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for POLR1D Gene

Sources for POLR1D Gene

Content