The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016] See more...

Aliases for POLR1A Gene

Aliases for POLR1A Gene

  • RNA Polymerase I Subunit A 2 3 5
  • DNA-Directed RNA Polymerase I Largest Subunit 3 4
  • DNA-Directed RNA Polymerase I Subunit RPA1 3 4
  • Polymerase (RNA) I Polypeptide A, 194kDa 2 3
  • DNA-Directed RNA Polymerase I Subunit A 3 4
  • RNA Polymerase I 194 KDa Subunit 3 4
  • EC 2.7.7.6 4 50
  • RPA190 2 3
  • RPA194 3 4
  • RPO1-4 2 3
  • A190 3 4
  • RPA1 2 3
  • DNA-Directed RNA Polymerase I Subunit A1 3
  • Polymerase (RNA) I Subunit A 3
  • RNA Polymerase I Subunit A1 4
  • DKFZP586M0122 2
  • FLJ21915 2
  • AFDCIN 3
  • POLR1A 5
  • RPO14 3

External Ids for POLR1A Gene

Previous GeneCards Identifiers for POLR1A Gene

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

Summaries for POLR1A Gene

Entrez Gene Summary for POLR1A Gene

  • The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

GeneCards Summary for POLR1A Gene

POLR1A (RNA Polymerase I Subunit A) is a Protein Coding gene. Diseases associated with POLR1A include Acrofacial Dysostosis, Cincinnati Type and Burn-Mckeown Syndrome. Among its related pathways are ATP/ITP metabolism and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity and RNA polymerase I activity. An important paralog of this gene is POLR2A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR1A Gene

Genomics for POLR1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLR1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR1A

Top Transcription factor binding sites by QIAGEN in the POLR1A gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • ER-alpha
  • Evi-1
  • HTF
  • Ik-2
  • Lmo2
  • Nkx2-5
  • YY1

Genomic Locations for POLR1A Gene

Latest Assembly
chr2:86,020,216-86,106,155
(GRCh38/hg38)
Size:
85,940 bases
Orientation:
Minus strand

Previous Assembly
chr2:86,247,339-86,333,009
(GRCh37/hg19 by Entrez Gene)
Size:
85,671 bases
Orientation:
Minus strand

chr2:86,247,339-86,333,278
(GRCh37/hg19 by Ensembl)
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 (PubMed:16809778). Interacts with MYO1C (By similarity). Interacts with ERBB2 (PubMed:21555369). Interacts with DDX11 (PubMed:26089203).
    SequenceCaution:
    • Sequence=AAC99959.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAD09356.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for POLR1A Gene

Selected DME Specific Peptides for POLR1A Gene

O95602:
  • VFATKLTYP
  • VYGIAVDPRHLSL
  • MAGREGL
  • AQSIGEP
  • DTAVKTSRSGYLQRC
  • TQMTLNTFH
  • GPNVHPGA
  • DFDGDEMN
  • YGEDGLD
  • GREGLVD
  • TVRDSDGS
  • VNTMQISCLLGQIELEG
  • NADFDGD
  • PTLHRPSIQA

Post-translational modifications for POLR1A Gene

  • Ubiquitination at Lys5, Lys31, Lys413, Lys573, Lys933, Lys960, Lys981, Lys1199, and Lys1704
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR1A Gene

Domains & Families for POLR1A Gene

Gene Families for POLR1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for POLR1A Gene

InterPro:
Blocks:
  • RNA polymerase I subunit A, N-terminal
  • RNA polymerase Rpb1, domain 4

Suggested Antigen Peptide Sequences for POLR1A Gene

GenScript: Design optimal peptide antigens:
  • DNA-directed RNA polymerase (B7ZKR9_HUMAN)
  • DNA-directed RNA polymerase (B9ZVN9_HUMAN)
  • DNA-directed RNA polymerase (Q53T12_HUMAN)
  • POLR1A protein (Q96AG9_HUMAN)
  • RNA polymerase I 194 kDa subunit (RPA1_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1); Xref=Rhea:RHEA:21248, Rhea:RHEA-COMP:11128, Rhea:RHEA-COMP:11129, ChEBI:CHEBI:33019, ChEBI:CHEBI:61557, ChEBI:CHEBI:83400; EC=2.7.7.6;.

Enzyme Numbers (IUBMB) for POLR1A Gene

Phenotypes From GWAS Catalog for POLR1A Gene

Gene Ontology (GO) - Molecular Function for POLR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001054 RNA polymerase I activity IMP 23782956
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 26089203
GO:0003899 contributes_to DNA-directed 5'-3' RNA polymerase activity IEA,IBA 21873635
GO:0005515 protein binding 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 Models for POLR1A Gene

MGI Knock Outs for POLR1A:
  • Polr1a Polr1a<tm1b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1A

No data available for Transcription Factor Targets and HOMER Transcription for POLR1A Gene

Localization for POLR1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1A Gene

Nucleus, nucleolus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLR1A gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
  • Nucleoplasm (4)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA,ISS --
GO:0005730 nucleolus IEA --
GO:0005736 RNA polymerase I complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with POLR1A: view

Pathways & Interactions for POLR1A Gene

genes like me logo Genes that share pathways with POLR1A: view

Pathways by source for POLR1A Gene

1 GeneGo (Thomson Reuters) pathway for POLR1A Gene
  • ATP/ITP metabolism
7 Qiagen pathways for POLR1A Gene
  • Assembly of RNA Polymerase-I Initiation Complex
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms
  • Estrogen Pathway
  • Inhibition of Ribosome Biogenesis by p14(ARF)
1 Cell Signaling Technology pathway for POLR1A Gene

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 --
GO:0045815 positive regulation of gene expression, epigenetic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Phosphate Experimental Pharma 0
Thymidine 5'-triphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0

(1) Additional Compounds for POLR1A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8

(3) ApexBio Compounds for POLR1A 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 POLR1A: view

Drug products for research

Transcripts for POLR1A Gene

mRNA/cDNA for POLR1A Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1A

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

Expression for POLR1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for POLR1A Gene



Protein tissue co-expression partners for POLR1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR1A

SOURCE GeneReport for Unigene cluster for POLR1A Gene:

Hs.531818

Evidence on tissue expression from TISSUES for POLR1A Gene

  • Intestine(4.3)
  • Skin(2.5)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • heart
Pelvis:
  • pelvis
Limb:
  • femur
  • lower limb
  • thigh
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with POLR1A: view

Primer products for research

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 29 30
  • 99.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLR1A 29 30
  • 88.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLR1A 29 30
  • 87.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polr1a 29
  • 85.57 (n)
Mouse
(Mus musculus)
Mammalia Polr1a 29 16 30
  • 85.03 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 78 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia POLR1A 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves POLR1A 29 30
  • 69.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLR1A 30
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polr1a 29
  • 68.5 (n)
Str.5369 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398274 29
Zebrafish
(Danio rerio)
Actinopterygii polr1a 29 30
  • 65.13 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12794 29
Fruit Fly
(Drosophila melanogaster)
Insecta RpI1 29 30
  • 52.14 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y48E1A.1 29
  • 49.91 (n)
rpoa-1 30
  • 38 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR374C 29
  • 48.75 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23243g 29
  • 47.49 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA190 29 30 32
  • 46.7 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons NRPA1 29
  • 47.82 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01638 29
  • 49.76 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nuc1 29
  • 48.98 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2789 30
  • 47 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8935 29
Species where no ortholog for POLR1A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for POLR1A: view image
Alliance of Genome Resources:
Additional Orthologs for POLR1A

Paralogs for POLR1A Gene

Paralogs for POLR1A Gene

genes like me logo Genes that share paralogs with POLR1A: view

Variants for POLR1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR1A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1012949 Uncertain Significance: not provided 86,027,984(-) T/C
NM_015425.6(POLR1A):c.4963A>G (p.Lys1655Glu)
MISSENSE
1012950 Uncertain Significance: not provided 86,028,659(-) G/A
NM_015425.6(POLR1A):c.4832C>T (p.Thr1611Met)
MISSENSE
1029398 Uncertain Significance: Acrofacial dysostosis, Cincinnati type 86,038,699(-) C/A
NM_015425.6(POLR1A):c.4034+1G>T
SPLICE_DONOR
1032690 Pathogenic: Acrofacial dysostosis, Cincinnati type 86,077,857(-) A/C
NM_015425.6(POLR1A):c.1380+2T>G
SPLICE_DONOR
1034814 Uncertain Significance: not provided 86,052,828(-) C/A
NM_015425.6(POLR1A):c.2381G>T (p.Gly794Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POLR1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv3885n100 CNV gain 25217958
dgv6946n54 CNV gain 21841781
dgv712e214 CNV gain 21293372
esv2751903 CNV gain 17911159
esv32617 CNV loss 17666407
esv3591537 CNV loss 21293372
esv3591538 CNV gain 21293372
esv3591540 CNV gain 21293372
nsv458563 CNV gain 19166990
nsv522891 CNV loss 19592680

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)

Additional Variant Information for POLR1A Gene

Human Gene Mutation Database (HGMD)
POLR1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1A
Leiden Open Variation Database (LOVD)
POLR1A

SNP Genotyping and Copy Number Assays for research

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

Disorders for POLR1A Gene

MalaCards: The human disease database

(11) MalaCards diseases for POLR1A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for POLR1A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POLR1A: view

No data available for Genatlas for POLR1A Gene

Publications for POLR1A Gene

  1. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. (PMID: 25913037) Weaver KN … Saal HM (American journal of human genetics 2015) 3 4 72
  2. Molecular cloning and characterization of the cDNA encoding the largest subunit of mouse RNA polymerase I. (PMID: 9236775) Seither P … Grummt I (Molecular & general genetics : MGG 1997) 2 3 22
  3. The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development. (PMID: 26089203) Sun X … Ma L (Human molecular genetics 2015) 3 4
  4. Nuclear ErbB2 enhances translation and cell growth by activating transcription of ribosomal RNA genes. (PMID: 21555369) Li LY … Hung MC (Cancer research 2011) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for POLR1A Gene

Sources for POLR1A Gene