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Aliases for NOL11 Gene

Aliases for NOL11 Gene

  • Nucleolar Protein 11 2 3 5

External Ids for NOL11 Gene

Previous GeneCards Identifiers for NOL11 Gene

  • GC17P063145
  • GC17P065714
  • GC17P061098

Summaries for NOL11 Gene

GeneCards Summary for NOL11 Gene

NOL11 (Nucleolar Protein 11) is a Protein Coding gene. Diseases associated with NOL11 include dravet syndrome. Among its related pathways are Gene Expression and rRNA processing. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for NOL11 Gene

  • Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A, A0, 1 and 2b.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOL11 Gene

Genomics for NOL11 Gene

Regulatory Elements for NOL11 Gene

Promoters for NOL11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NOL11 on UCSC Golden Path with GeneCards custom track

Genomic Location for NOL11 Gene

Chromosome:
17
Start:
67,717,833 bp from pter
End:
67,744,531 bp from pter
Size:
26,699 bases
Orientation:
Plus strand

Genomic View for NOL11 Gene

Genes around NOL11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOL11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOL11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOL11 Gene

Proteins for NOL11 Gene

  • Protein details for NOL11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8H0-NOL11_HUMAN
    Recommended name:
    Nucleolar protein 11
    Protein Accession:
    Q9H8H0
    Secondary Accessions:
    • B7Z5V9
    • Q7L5S1
    • Q9UG18

    Protein attributes for NOL11 Gene

    Size:
    719 amino acids
    Molecular mass:
    81124 Da
    Quaternary structure:
    • Forms a complex with UTP4, UTP15, WDR43 and WDR75; within this complex, directly interacts with UTP4. Interacts with FBL/fibrillarin in a transcription-dependent manner.
    SequenceCaution:
    • Sequence=BAH13045.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=CAB53709.1; Type=Frameshift; Positions=382, 383; Evidence={ECO:0000305};

    Alternative splice isoforms for NOL11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOL11 Gene

Proteomics data for NOL11 Gene at MOPED

Post-translational modifications for NOL11 Gene

  • Ubiquitination at Lys 52, Lys 125, Lys 252, Lys 344, Lys 424, and Lys 676
  • Modification sites at PhosphoSitePlus

Other Protein References for NOL11 Gene

No data available for DME Specific Peptides for NOL11 Gene

Domains & Families for NOL11 Gene

Protein Domains for NOL11 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NOL11 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NOL11: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NOL11 Gene

Function for NOL11 Gene

Molecular function for NOL11 Gene

UniProtKB/Swiss-Prot Function:
Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A, A0, 1 and 2b.
genes like me logo Genes that share phenotypes with NOL11: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOL11 Gene

Localization for NOL11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOL11 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOL11 Gene COMPARTMENTS Subcellular localization image for NOL11 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for NOL11 Gene

Pathways & Interactions for NOL11 Gene

genes like me logo Genes that share pathways with NOL11: view

Pathways by source for NOL11 Gene

Interacting Proteins for NOL11 Gene

Gene Ontology (GO) - Biological Process for NOL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1901838 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter IMP 22916032
genes like me logo Genes that share ontologies with NOL11: view

No data available for SIGNOR curated interactions for NOL11 Gene

Drugs & Compounds for NOL11 Gene

No Compound Related Data Available

Transcripts for NOL11 Gene

Unigene Clusters for NOL11 Gene

Nucleolar protein 11:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NOL11 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for NOL11 Gene

GeneLoc Exon Structure for
NOL11
ECgene alternative splicing isoforms for
NOL11

Expression for NOL11 Gene

mRNA expression in normal human tissues for NOL11 Gene

Protein differential expression in normal tissues from HIPED for NOL11 Gene

This gene is overexpressed in Breast (25.9), CD8 Tcells (7.1), Peripheral blood mononuclear cells (6.7), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NOL11 Gene



SOURCE GeneReport for Unigene cluster for NOL11 Gene Hs.463936

genes like me logo Genes that share expression patterns with NOL11: view

Protein tissue co-expression partners for NOL11 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 NOL11 Gene

Orthologs for NOL11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOL11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOL11 35
  • 99.63 (n)
  • 99.86 (a)
NOL11 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOL11 36
  • 84 (a)
OneToOne
NOL11 35
  • 86.58 (n)
  • 84.4 (a)
dog
(Canis familiaris)
Mammalia NOL11 35
  • 88.22 (n)
  • 85.2 (a)
NOL11 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nol11 16
Nol11 36
  • 76 (a)
OneToOne
Nol11 35
  • 80.56 (n)
  • 77.44 (a)
oppossum
(Monodelphis domestica)
Mammalia NOL11 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOL11 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nol11 35
  • 78.38 (n)
  • 73.27 (a)
chicken
(Gallus gallus)
Aves NOL11 36
  • 53 (a)
OneToMany
NOL11 36
  • 53 (a)
OneToMany
LOC100859426 35
  • 64.63 (n)
  • 57.73 (a)
lizard
(Anolis carolinensis)
Reptilia NOL11 36
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15994 35
zebrafish
(Danio rerio)
Actinopterygii nol11 36
  • 38 (a)
OneToOne
nol11 35
  • 52.55 (n)
  • 41.07 (a)
Species with no ortholog for NOL11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOL11 Gene

ENSEMBL:
Gene Tree for NOL11 (if available)
TreeFam:
Gene Tree for NOL11 (if available)

Paralogs for NOL11 Gene

Pseudogenes.org Pseudogenes for NOL11 Gene

genes like me logo Genes that share paralogs with NOL11: view

No data available for Paralogs for NOL11 Gene

Variants for NOL11 Gene

Sequence variations from dbSNP and Humsavar for NOL11 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2291284 - 67,721,409(-) CTTGC(A/G)CTGAA reference, missense, utr-variant-5-prime
rs917835 -- 67,726,187(-) GGACT(C/G)CCAAG intron-variant
rs1473449 -- 67,743,312(-) AGGCT(C/T)ATTTC intron-variant
rs999041 -- 67,722,818(-) GCTAC(A/G)AGGCA intron-variant
rs2110110 -- 67,720,581(-) GCTCA(C/T)GCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NOL11 Gene

Variant ID Type Subtype PubMed ID
nsv511059 CNV Complex 20534489
nsv510442 CNV Loss 20534489
esv2556372 CNV Deletion 19546169
esv2209241 CNV Deletion 18987734
esv3806 CNV Deletion 18987735
esv2716135 CNV Deletion 23290073
esv1406871 CNV Deletion 17803354
esv7392 CNV Loss 19470904

Variation tolerance for NOL11 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOL11 Gene

HapMap Linkage Disequilibrium report
NOL11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOL11 Gene

Disorders for NOL11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NOL11 Gene - From: GeneCards

Disorder Aliases PubMed IDs
dravet syndrome
  • dravet syndrome, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search NOL11 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NOL11

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOL11
genes like me logo Genes that share disorders with NOL11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOL11 Gene

Publications for NOL11 Gene

  1. NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. (PMID: 22916032) Freed E.F. … Baserga S.J. (PLoS Genet. 2012) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 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 NOL11 Gene

Sources for NOL11 Gene

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