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Aliases for POLR2L Gene

Aliases for POLR2L Gene

  • RNA Polymerase II Subunit L 2 3 5
  • Polymerase (RNA) II (DNA Directed) Polypeptide L, 7.6kDa 2 3
  • RNA Polymerases I, II, And III Subunit ABC5 3 4
  • DNA-Directed RNA Polymerase III Subunit L 3 4
  • RNA Polymerase II 7.6 KDa Subunit 3 4
  • RPB10 Homolog 3 4
  • RPB7.6 3 4
  • DNA-Directed RNA Polymerases I, II, And III Subunit RPABC5 3
  • Polymerase (RNA) II Subunit L 3
  • EC 2.7.7.6 58
  • RPB10beta 3
  • HRPB7.6 3
  • RPABC5 3
  • RBP10 3
  • RPB10 3

External Ids for POLR2L Gene

Previous GeneCards Identifiers for POLR2L Gene

  • GC11U990108
  • GC11P000668
  • GC11P000355
  • GC11M000831
  • GC11M000655

Summaries for POLR2L Gene

Entrez Gene Summary for POLR2L Gene

  • This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

GeneCards Summary for POLR2L Gene

POLR2L (RNA Polymerase II Subunit L) is a Protein Coding gene. Diseases associated with POLR2L include Cockayne Syndrome and Hyperparathyroidism-Jaw Tumor Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and DNA damage_Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase I activity.

UniProtKB/Swiss-Prot for POLR2L Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with the central large cleft (By similarity).

Gene Wiki entry for POLR2L Gene

Additional gene information for POLR2L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLR2L Gene

Genomics for POLR2L Gene

Regulatory Elements for POLR2L Gene

Enhancers for POLR2L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H000924 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.6 -84.3 -84260 5 ATF1 ARNT ARID4B SIN3A GTF3C2 ZNF766 GLIS2 ELK1 ZNF207 ZNF143 PHRF1 TMEM80 SNORA52 ENSG00000255237 BET1L PSMD13 PIDD1 ENSG00000269915 RIC8A AP2A2
GH11H000951 1.5 Ensembl ENCODE dbSUPER 6.1 -113.0 -113015 8 PKNOX1 FOXA2 MLX ARID4B SIN3A YY1 ZNF121 SLC30A9 REST PPARG PIDD1 DRD4 TMEM80 GATD1 ENSG00000255142 ENSG00000255158 LOC101927503 POLR2L AP2A2 LOC171391
GH11H000939 1.4 Ensembl ENCODE dbSUPER 5.7 -99.1 -99085 4 ELF3 FOXA2 ARID4B ZSCAN9 RARA ZNF121 SCRT2 ATF7 CREM REST AP2A2 POLR2L IRF7 LOC171391 GC11P000950 GC11M000925
GH11H000839 1.3 ENCODE dbSUPER 6 -1.2 -1236 7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207 CD151 TMEM80 PIDD1 SNORA52 RPLP2 TSPAN4 RIC8A ENSG00000255158 BET1L ENSG00000255237
GH11H000930 1.3 Ensembl ENCODE dbSUPER 5.8 -92.3 -92260 7 PKNOX1 ARID4B SCRT2 FOS EGR2 CEBPB NR2F2 NFIL3 MAFF CEBPA LOC101927503 POLR2L AP2A2 IRF7 LRRC56 GC11M000925 GC11P000950
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLR2L on UCSC Golden Path with GeneCards custom track

Promoters for POLR2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035700 -755 3401 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207

Genomic Location for POLR2L Gene

Chromosome:
11
Start:
837,356 bp from pter
End:
842,545 bp from pter
Size:
5,190 bases
Orientation:
Minus strand

Genomic View for POLR2L Gene

Genes around POLR2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR2L Gene

Proteins for POLR2L Gene

  • Protein details for POLR2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62875-RPAB5_HUMAN
    Recommended name:
    DNA-directed RNA polymerases I, II, and III subunit RPABC5
    Protein Accession:
    P62875
    Secondary Accessions:
    • P52436
    • Q6FHX3

    Protein attributes for POLR2L Gene

    Size:
    67 amino acids
    Molecular mass:
    7645 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively.

    Three dimensional structures from OCA and Proteopedia for POLR2L Gene

neXtProt entry for POLR2L Gene

Selected DME Specific Peptides for POLR2L Gene

P62875:
  • RYCCRRM
  • PVRCFTCG

Post-translational modifications for POLR2L Gene

  • Ubiquitination at Lys41
  • Modification sites at PhosphoSitePlus

Other Protein References for POLR2L Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for POLR2L Gene

Gene Families for POLR2L Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for POLR2L Gene

Suggested Antigen Peptide Sequences for POLR2L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P62875

UniProtKB/Swiss-Prot:

RPAB5_HUMAN :
  • Belongs to the archaeal RpoN/eukaryotic RPB10 RNA polymerase subunit family.
Family:
  • Belongs to the archaeal RpoN/eukaryotic RPB10 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR2L: view

Function for POLR2L Gene

Molecular function for POLR2L Gene

GENATLAS Biochemistry:
polymerase II,RNA (DNA directed) small polypeptide L (7,6kDa),yeast RPB11 homolog
UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2L/RBP10 is part of the core element with the central large cleft (By similarity).

Enzyme Numbers (IUBMB) for POLR2L Gene

Phenotypes From GWAS Catalog for POLR2L Gene

Gene Ontology (GO) - Molecular Function for POLR2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001054 contributes_to RNA polymerase I activity IBA --
GO:0001055 contributes_to RNA polymerase II activity IBA --
GO:0001056 contributes_to RNA polymerase III activity IBA --
GO:0003677 DNA binding IEA --
GO:0003899 DNA-directed 5-3 RNA polymerase activity TAS 8524256
genes like me logo Genes that share ontologies with POLR2L: view
genes like me logo Genes that share phenotypes with POLR2L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POLR2L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR2L Gene

Localization for POLR2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR2L Gene

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 POLR2L gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2

Gene Ontology (GO) - Cellular Components for POLR2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 9852112
GO:0005654 nucleoplasm TAS --
GO:0005665 DNA-directed RNA polymerase II, core complex IDA 9852112
GO:0005666 DNA-directed RNA polymerase III complex IBA --
GO:0005736 DNA-directed RNA polymerase I complex IBA --
genes like me logo Genes that share ontologies with POLR2L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POLR2L Gene

Pathways & Interactions for POLR2L Gene

SuperPathways for POLR2L Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 RNA Polymerase III Transcription Initiation
4 RNA Polymerase II Transcription Initiation And Promoter Clearance
5 mRNA Capping
genes like me logo Genes that share pathways with POLR2L: view

Gene Ontology (GO) - Biological Process for POLR2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006351 transcription, DNA-templated TAS --
GO:0006356 regulation of transcription from RNA polymerase I promoter TAS 8786124
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
genes like me logo Genes that share ontologies with POLR2L: view

No data available for SIGNOR curated interactions for POLR2L Gene

Drugs & Compounds for POLR2L Gene

(42) Drugs for POLR2L Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental Pharma 0
Actinomycin D Pharma RNA polymerase inhibitor 0
ATP Nutra Agonist 0

(37) Additional Compounds for POLR2L Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8

(1) ApexBio Compounds for POLR2L Gene

Compound Action Cas Number
Actinomycin D RNA polymerase inhibitor 50-76-0
genes like me logo Genes that share compounds with POLR2L: view

Drug Products

Transcripts for POLR2L Gene

mRNA/cDNA for POLR2L Gene

Unigene Clusters for POLR2L Gene

Polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POLR2L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for POLR2L Gene

No ASD Table

Relevant External Links for POLR2L Gene

GeneLoc Exon Structure for
POLR2L
ECgene alternative splicing isoforms for
POLR2L

Expression for POLR2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLR2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLR2L Gene

This gene is overexpressed in Pancreas (17.2) and Tlymphocyte (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLR2L Gene



Protein tissue co-expression partners for POLR2L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLR2L Gene:

POLR2L

SOURCE GeneReport for Unigene cluster for POLR2L Gene:

Hs.441072

Evidence on tissue expression from TISSUES for POLR2L Gene

  • Kidney(4.4)
  • Bone marrow(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with POLR2L: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR2L Gene

Orthologs for POLR2L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLR2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLR2L 33 34
  • 100 (n)
mouse
(Mus musculus)
Mammalia Gm10774 34
  • 99 (a)
OneToMany
Polr2l 33 16 34
  • 89.55 (n)
cow
(Bos Taurus)
Mammalia POLR2L 33 34
  • 94.03 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911840 33
  • 88.06 (n)
chicken
(Gallus gallus)
Aves POLR2L 33 34
  • 82.59 (n)
lizard
(Anolis carolinensis)
Reptilia POLR2L 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polr2l.1 33
  • 78.61 (n)
Str.6602 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8250 33
zebrafish
(Danio rerio)
Actinopterygii polr2l 33 34
  • 80.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011761 33
  • 81.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpb10 35 33 34
  • 79.6 (n)
worm
(Caenorhabditis elegans)
Secernentea Y37E3.3 35
  • 85 (a)
rpb-10 33 34
  • 73.63 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR163W 33
  • 68.66 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D06699g 33
  • 58.71 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPB10 33 34 36
  • 58.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NRPB10 33
  • 70.65 (n)
rice
(Oryza sativa)
Liliopsida Os11g0194800 33
  • 77.61 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.6936 33
corn
(Zea mays)
Liliopsida Zm.7018 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4791 34
  • 90 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02605 33
  • 73.96 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rpb10 33
  • 65.67 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3728 33
Species where no ortholog for POLR2L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for POLR2L Gene

ENSEMBL:
Gene Tree for POLR2L (if available)
TreeFam:
Gene Tree for POLR2L (if available)

Paralogs for POLR2L Gene

genes like me logo Genes that share paralogs with POLR2L: view

No data available for Paralogs for POLR2L Gene

Variants for POLR2L Gene

Sequence variations from dbSNP and Humsavar for POLR2L Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000293658 -- 839,623(+) GGGCC(C/T)CAGAA downstream-variant-500B
rs1000441734 -- 843,285(+) CCCGG(G/T)CTCCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000522558 -- 840,130(+) CTGCT(C/T)CACTG utr-variant-3-prime
rs1000676155 -- 840,183(+) CATCC(C/T)AGTGA utr-variant-3-prime
rs1000695966 -- 844,245(+) GTGGG(A/G)GCCTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for POLR2L Gene

Variant ID Type Subtype PubMed ID
dgv1013n100 CNV gain 25217958
dgv1526n54 CNV gain 21841781
dgv1527n54 CNV loss 21841781
dgv182e199 CNV deletion 23128226
esv2759794 CNV loss 17122850
nsv1040044 CNV gain+loss 25217958
nsv1048774 CNV gain 25217958
nsv1159791 CNV deletion 26073780
nsv469923 CNV loss 18288195
nsv552871 CNV loss 21841781
nsv552874 CNV gain 21841781
nsv552879 CNV loss 21841781
nsv552882 CNV loss 21841781
nsv552887 CNV loss 21841781
nsv552888 CNV loss 21841781
nsv832044 CNV loss 17160897
nsv8760 CNV loss 18304495
nsv951272 CNV deletion 24416366

Variation tolerance for POLR2L Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLR2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR2L Gene

Disorders for POLR2L Gene

MalaCards: The human disease database

(3) MalaCards diseases for POLR2L Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
cockayne syndrome
  • cockayne's syndrome
hyperparathyroidism-jaw tumor syndrome
  • parathyroid adenoma with cystic changes
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POLR2L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLR2L
genes like me logo Genes that share disorders with POLR2L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR2L Gene

Publications for POLR2L Gene

  1. The HIV-1 Tat team gets bigger. (PMID: 20227660) Rice AP (Cell host & microbe 2010) 3 22 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Domains in the SPT5 protein that modulate its transcriptional regulatory properties. (PMID: 10757782) Ivanov D … Gaynor RB (Molecular and cellular biology 2000) 3 22 60
  4. The ability of positive transcription elongation factor B to transactivate human immunodeficiency virus transcription depends on a functional kinase domain, cyclin T1, and Tat. (PMID: 9696809) Fujinaga K … Peterlin BM (Journal of virology 1998) 3 22 60
  5. Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes. (PMID: 9852112) Kershnar E … Chiang CM (The Journal of biological chemistry 1998) 3 4 60

Products for POLR2L Gene

Sources for POLR2L Gene

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