Aliases for NOL11 Gene

Aliases for NOL11 Gene

  • Nucleolar Protein 11 2 3 4 5
  • DKFZP586L0724 2
  • NOL11 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 Bowen-Conradi Syndrome and Treacher Collins Syndrome 1. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for NOL11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOL11 Gene

Genomics for NOL11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NOL11 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 NOL11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOL11

Top Transcription factor binding sites by QIAGEN in the NOL11 gene promoter:
  • FOXI1
  • HFH-3
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B

Genomic Locations for NOL11 Gene

Genomic Locations for NOL11 Gene
chr17:67,717,833-67,744,531
(GRCh38/hg38)
Size:
26,699 bases
Orientation:
Plus strand
chr17:65,713,949-65,740,647
(GRCh37/hg19)
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:
    • Interacts with UTP4. Interacts with FBL/fibrillarin in a transcription-dependent manner (PubMed:22916032). May associate with the proposed t-UTP subcomplex of the SSU processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75.
    SequenceCaution:
    • Sequence=BAH13045.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=CAB53709.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Is the likely candidate for being the functional analog of yeast Utp8.
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for NOL11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOL11 Gene

Post-translational modifications for NOL11 Gene

  • Ubiquitination at Lys52, Lys125, Lys252, Lys344, Lys424, and Lys676
  • 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

Gene Families for NOL11 Gene

Protein Domains for NOL11 Gene

InterPro:
Blocks:
  • NUC205
ProtoNet:

Suggested Antigen Peptide Sequences for NOL11 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55361, highly similar to Nucleolar protein 11 (B7Z5V9_HUMAN)
  • Nucleolar protein 11 (NOL11_HUMAN)
genes like me logo Genes that share domains with NOL11: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for NOL11 Gene

Gene Ontology (GO) - Molecular Function for NOL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 22916032
genes like me logo Genes that share ontologies with NOL11: view
genes like me logo Genes that share phenotypes with NOL11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOL11

No data available for Enzyme Numbers (IUBMB) , 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
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 NOL11 gene
Compartment Confidence
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NOL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA 22916032
GO:0034455 t-UTP complex IDA 22916032
genes like me logo Genes that share ontologies with NOL11: view

Pathways & Interactions for NOL11 Gene

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

Gene Ontology (GO) - Biological Process for NOL11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS --
GO:0030490 maturation of SSU-rRNA IEA,IMP 22916032
GO:0042254 ribosome biogenesis IEA --
GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I 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

mRNA/cDNA for NOL11 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOL11

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

Expression for NOL11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for NOL11 Gene



Protein tissue co-expression partners for NOL11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOL11

SOURCE GeneReport for Unigene cluster for NOL11 Gene:

Hs.463936

Evidence on tissue expression from TISSUES for NOL11 Gene

  • Nervous system(4.9)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with NOL11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NOL11 30 31
  • 88.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NOL11 30 31
  • 86.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nol11 30 17 31
  • 80.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nol11 30
  • 78.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia NOL11 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NOL11 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100859426 30
  • 64.63 (n)
NOL11 31 31
  • 53 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia NOL11 31
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15994 30
Zebrafish
(Danio rerio)
Actinopterygii nol11 30 31
  • 52.55 (n)
OneToOne
Species where no ortholog for NOL11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for NOL11: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOL11 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
768912 Benign: not provided 67,722,634(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
768913 Benign: not provided 67,726,588(+) C/G MISSENSE_VARIANT
rs2291284 - p.Val115Ala

Additional dbSNP identifiers (rs#s) for NOL11 Gene

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

Variant ID Type Subtype PubMed ID
dgv1499n106 CNV deletion 24896259
esv1406871 CNV deletion 17803354
esv2209241 CNV deletion 18987734
esv2556372 CNV deletion 19546169
esv3554684 CNV deletion 23714750
esv3806 CNV loss 18987735
esv3893036 CNV gain 25118596
esv7392 CNV loss 19470904
nsv1066511 CNV gain 25217958
nsv1071400 CNV deletion 25765185
nsv1120054 OTHER inversion 24896259
nsv1146861 CNV deletion 26484159
nsv510442 OTHER sequence alteration 20534489
nsv511059 OTHER complex 20534489
nsv575915 CNV gain 21841781
nsv955416 CNV deletion 24416366

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)

Additional Variant Information for NOL11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOL11

SNP Genotyping and Copy Number Assay Products

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

Disorders for NOL11 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NOL11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bowen-conradi syndrome
  • bwcns
treacher collins syndrome 1
  • tcs1
cleft palate, isolated
  • cpi
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards
Search NOL11 in MalaCards View complete list of genes associated with diseases
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 EF … Baserga SJ (PLoS genetics 2012) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer. (PMID: 15334068) Petroziello J … Carter P (Oncogene 2004) 3 4
  5. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4

Products for NOL11 Gene

Sources for NOL11 Gene