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Aliases for POLR1A Gene

Aliases for POLR1A Gene

  • Polymerase (RNA) I Subunit A 2 3
  • DNA-Directed RNA Polymerase I Largest Subunit 3 4
  • Polymerase (RNA) I Polypeptide A, 194kDa 2 3
  • DNA-Directed RNA Polymerase I Subunit A 3 4
  • Polymerase (RNA) I Polypeptide A 3 5
  • RNA Polymerase I 194 KDa Subunit 3 4
  • RNA Polymerase I Subunit A1 3 4
  • EC 2.7.7.6 4 63
  • RPA194 3 4
  • A190 3 4
  • DNA-Directed RNA Polymerase I Subunit A1 3
  • AFDCIN 3
  • RPO1-4 3
  • RPO14 3
  • RPA1 3

External Ids for POLR1A Gene

Previous GeneCards Identifiers for POLR1A Gene

  • GC02M086547
  • GC02M086211
  • GC02M086228
  • GC02M086227
  • GC02M086165
  • GC02M086253
  • GC02M086249

Summaries for POLR1A Gene

GeneCards Summary for POLR1A Gene

POLR1A (Polymerase (RNA) I Subunit A) is a Protein Coding gene. Diseases associated with POLR1A include acrofacial dysostosis, cincinnati type and acrofacial dysostosis. Among its related pathways are Gene Expression and Metabolism. GO annotations related to this gene include DNA-directed RNA polymerase activity and RNA polymerase I activity.

UniProtKB/Swiss-Prot for POLR1A Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).

Gene Wiki entry for POLR1A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR1A Gene

Genomics for POLR1A Gene

Regulatory Elements for POLR1A Gene

Promoters for POLR1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLR1A on UCSC Golden Path with GeneCards custom track

Genomic Location for POLR1A Gene

Chromosome:
2
Start:
86,020,216 bp from pter
End:
86,106,155 bp from pter
Size:
85,940 bases
Orientation:
Minus strand

Genomic View for POLR1A Gene

Genes around POLR1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1A Gene

Proteins for POLR1A Gene

  • Protein details for POLR1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95602-RPA1_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA1
    Protein Accession:
    O95602
    Secondary Accessions:
    • B7Z7T0
    • D6W5M0
    • Q0VG05
    • Q9UEH0
    • Q9UFT9

    Protein attributes for POLR1A Gene

    Size:
    1720 amino acids
    Molecular mass:
    194811 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits. Interacts with MYO1C. Interacts with ERBB2 (By similarity).
    SequenceCaution:
    • Sequence=AAC99959.1; Type=Frameshift; Positions=1114, 1469; Evidence={ECO:0000305}; Sequence=AAD09356.1; Type=Frameshift; Positions=1114; Evidence={ECO:0000305};

neXtProt entry for POLR1A Gene

Proteomics data for POLR1A Gene at MOPED

Post-translational modifications for POLR1A Gene

  • Ubiquitination at Lys 5, Lys 31, Lys 413, Lys 573, Lys 933, Lys 960, Lys 981, Lys 1199, and Lys 1704
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR1A Gene

Domains & Families for POLR1A Gene

Gene Families for POLR1A Gene

Graphical View of Domain Structure for InterPro Entry

O95602

UniProtKB/Swiss-Prot:

RPA1_HUMAN :
  • Belongs to the RNA polymerase beta chain family.
Family:
  • Belongs to the RNA polymerase beta chain family.
genes like me logo Genes that share domains with POLR1A: view

Function for POLR1A Gene

Molecular function for POLR1A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1).
UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).

Enzyme Numbers (IUBMB) for POLR1A Gene

Gene Ontology (GO) - Molecular Function for POLR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001054 contributes_to RNA polymerase I activity IBA --
GO:0005515 protein binding IEA,IPI 16514417
genes like me logo Genes that share ontologies with POLR1A: view
genes like me logo Genes that share phenotypes with POLR1A: view

Human Phenotype Ontology for POLR1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for POLR1A Gene

Localization for POLR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1A Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLR1A Gene COMPARTMENTS Subcellular localization image for POLR1A gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for POLR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005736 DNA-directed RNA polymerase I complex IEA,IBA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with POLR1A: view

Pathways & Interactions for POLR1A Gene

SuperPathways for POLR1A Gene

Superpath Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
4 DNA Double-Strand Break Repair
5 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
genes like me logo Genes that share pathways with POLR1A: view

Gene Ontology (GO) - Biological Process for POLR1A 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: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 POLR1A: view

No data available for SIGNOR curated interactions for POLR1A Gene

Drugs & Compounds for POLR1A Gene

(8) Drugs for POLR1A Gene - From: HMDB and ApexBio

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

(2) Additional Compounds for POLR1A 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
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLR1A: view

Transcripts for POLR1A Gene

Unigene Clusters for POLR1A Gene

Polymerase (RNA) I polypeptide A, 194kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - -
SP2:
SP3:
SP4: - - - - -
SP5: - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:

Relevant External Links for POLR1A Gene

GeneLoc Exon Structure for
POLR1A
ECgene alternative splicing isoforms for
POLR1A

Expression for POLR1A Gene

mRNA expression in normal human tissues for POLR1A Gene

Protein differential expression in normal tissues from HIPED for POLR1A Gene

This gene is overexpressed in Pancreas (15.5), Lymph node (14.4), and Breast (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLR1A Gene



SOURCE GeneReport for Unigene cluster for POLR1A Gene Hs.531818

genes like me logo Genes that share expression patterns with POLR1A: view

Protein tissue co-expression partners for POLR1A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POLR1A Gene

Orthologs for POLR1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR1A 36
  • 99 (a)
OneToOne
POLR1A 35
  • 99.09 (n)
  • 98.6 (a)
cow
(Bos Taurus)
Mammalia POLR1A 36
  • 90 (a)
OneToOne
POLR1A 35
  • 87.16 (n)
  • 90.44 (a)
dog
(Canis familiaris)
Mammalia POLR1A 35
  • 88.41 (n)
  • 91.13 (a)
POLR1A 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polr1a 36
  • 87 (a)
OneToOne
Polr1a 16
Polr1a 35
  • 85.03 (n)
  • 86.73 (a)
oppossum
(Monodelphis domestica)
Mammalia POLR1A 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Polr1a 35
  • 85.57 (n)
  • 87.95 (a)
chicken
(Gallus gallus)
Aves POLR1A 35
  • 69.56 (n)
  • 71.98 (a)
POLR1A 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLR1A 36
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398274 35
tropical clawed frog
(Silurana tropicalis)
Amphibia polr1a 35
  • 68.5 (n)
  • 69.31 (a)
Str.5369 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12794 35
zebrafish
(Danio rerio)
Actinopterygii polr1a 35
  • 65.13 (n)
  • 68.11 (a)
polr1a 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RpI1 36
  • 37 (a)
OneToOne
RpI1 35
  • 52.14 (n)
  • 46.32 (a)
worm
(Caenorhabditis elegans)
Secernentea rpoa-1 36
  • 38 (a)
OneToOne
Y48E1A.1 35
  • 49.91 (n)
  • 42.5 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR374C 35
  • 48.75 (n)
  • 42.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA190 35
  • 46.7 (n)
  • 42.26 (a)
RPA190 36
  • 38 (a)
OneToOne
RPA190 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23243g 35
  • 47.49 (n)
  • 41.83 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPA1 35
  • 47.82 (n)
  • 39.32 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01638 35
  • 49.76 (n)
  • 40.32 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nuc1 35
  • 48.98 (n)
  • 44.33 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8935 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2789 36
  • 47 (a)
OneToOne
Species with no ortholog for POLR1A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for POLR1A Gene

ENSEMBL:
Gene Tree for POLR1A (if available)
TreeFam:
Gene Tree for POLR1A (if available)

Paralogs for POLR1A Gene

No data available for Paralogs for POLR1A Gene

Variants for POLR1A Gene

Sequence variations from dbSNP and Humsavar for POLR1A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs311563 -- 86,065,533(+) CTAAT(C/T)GCCTG intron-variant
rs311564 -- 86,066,375(+) TTGGT(A/G)AGTGC intron-variant
rs311565 -- 86,066,706(+) TAACT(A/C)AAAGG intron-variant
rs311566 -- 86,067,288(+) GACAT(A/T)ACAAT intron-variant
rs311567 -- 86,067,539(+) AAAGA(C/T)GCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLR1A Gene

Variant ID Type Subtype PubMed ID
esv2751903 CNV Gain 17911159
esv32617 CNV Loss 17666407
nsv522891 CNV Loss 19592680
nsv458563 CNV Gain 19166990

Variation tolerance for POLR1A Gene

Residual Variation Intolerance Score: 0.681% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.61; 82.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR1A Gene

HapMap Linkage Disequilibrium report
POLR1A
Human Gene Mutation Database (HGMD)
POLR1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1A Gene

Disorders for POLR1A Gene

MalaCards: The human disease database

(5) MalaCards diseases for POLR1A Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acrofacial dysostosis, cincinnati type
  • acrofacial dysostosis cincinnati type
acrofacial dysostosis
kidney hypertrophy
  • hypertrophy of kidney
dysostosis
  • dysostoses
treacher collins syndrome 1
  • treacher collins syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RPA1_HUMAN
  • Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462]: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and, in some patients, the limbs. {ECO:0000269 PubMed:25913037}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POLR1A

Genetic Association Database (GAD)
POLR1A
Human Genome Epidemiology (HuGE) Navigator
POLR1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR1A
genes like me logo Genes that share disorders with POLR1A: view

No data available for Genatlas for POLR1A Gene

Publications for POLR1A Gene

  1. Molecular cloning and characterization of the cDNA encoding the largest subunit of mouse RNA polymerase I. (PMID: 9236775) Seither P. … Grummt I. (Mol. Gen. Genet. 1997) 2 3 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. (PMID: 25913037) Weaver K.N. … Saal H.M. (Am. J. Hum. Genet. 2015) 3
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for POLR1A Gene

Sources for POLR1A Gene

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