Aliases for URB1 Gene

Aliases for URB1 Gene

  • URB1 Ribosome Biogenesis Homolog 2 3 5
  • Nucleolar Pre-Ribosomal-Associated Protein 1 3 4
  • URB1 Ribosome Biogenesis 1 Homolog 3 4
  • Nucleolar Protein 254 KDa 3 4
  • C21orf108 3 4
  • NPA1 3 4
  • URB1 Ribosome Biogenesis 1 Homolog (S. Cerevisiae) 2
  • Nucleolar Preribosomal-Associated Protein 1 3
  • Chromosome 21 Open Reading Frame 108 2
  • KIAA0539 4
  • NOP254 4

External Ids for URB1 Gene

Previous HGNC Symbols for URB1 Gene

  • C21orf108

Previous GeneCards Identifiers for URB1 Gene

  • GC21M032607
  • GC21M033683
  • GC21M019092

Summaries for URB1 Gene

GeneCards Summary for URB1 Gene

URB1 (URB1 Ribosome Biogenesis Homolog) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding.

Additional gene information for URB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for URB1 Gene

Genomics for URB1 Gene

GeneHancer (GH) Regulatory Elements for URB1 Gene

Promoters and enhancers for URB1 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 URB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the URB1 gene promoter:
  • AML1a
  • AP-1
  • Bach2
  • Brachyury
  • c-Fos
  • c-Jun
  • Egr-4
  • HNF-1
  • HNF-1A
  • MIF-1

Genomic Locations for URB1 Gene

Genomic Locations for URB1 Gene
chr21:32,311,018-32,393,012
(GRCh38/hg38)
Size:
81,995 bases
Orientation:
Minus strand
chr21:33,683,329-33,765,335
(GRCh37/hg19)
Size:
82,007 bases
Orientation:
Minus strand

Genomic View for URB1 Gene

Genes around URB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
URB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for URB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for URB1 Gene

Proteins for URB1 Gene

  • Protein details for URB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60287-NPA1P_HUMAN
    Recommended name:
    Nucleolar pre-ribosomal-associated protein 1
    Protein Accession:
    O60287
    Secondary Accessions:
    • D3DSE5
    • Q96NX1
    • Q9NYQ1

    Protein attributes for URB1 Gene

    Size:
    2271 amino acids
    Molecular mass:
    254389 Da
    Quaternary structure:
    No Data Available

neXtProt entry for URB1 Gene

Post-translational modifications for URB1 Gene

  • Ubiquitination at Lys23, Lys185, Lys376, Lys399, Lys616, Lys1085, Lys1336, Lys1786, and Lys1909
  • Modification sites at PhosphoSitePlus

Other Protein References for URB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for URB1 Gene

Domains & Families for URB1 Gene

Gene Families for URB1 Gene

Protein Domains for URB1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for URB1 Gene

GenScript: Design optimal peptide antigens:
  • URB1 ribosome biogenesis 1 homolog (NPA1P_HUMAN)
genes like me logo Genes that share domains with URB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for URB1 Gene

Function for URB1 Gene

Phenotypes From GWAS Catalog for URB1 Gene

Gene Ontology (GO) - Molecular Function for URB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with URB1: view

Phenotypes for URB1 Gene

MGI mutant phenotypes for URB1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with URB1: view

Animal Model Products

CRISPR Products

miRNA for URB1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for URB1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for URB1 Gene

Localization for URB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for URB1 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 URB1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for URB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IBA,NAS 12429849
genes like me logo Genes that share ontologies with URB1: view

Pathways & Interactions for URB1 Gene

PathCards logo

SuperPathways for URB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for URB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0000466 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with URB1: view

No data available for Pathways by source and SIGNOR curated interactions for URB1 Gene

Drugs & Compounds for URB1 Gene

No Compound Related Data Available

Transcripts for URB1 Gene

mRNA/cDNA for URB1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(3) 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 URB1

Alternative Splicing Database (ASD) splice patterns (SP) for URB1 Gene

No ASD Table

Relevant External Links for URB1 Gene

GeneLoc Exon Structure for
URB1
ECgene alternative splicing isoforms for
URB1

Expression for URB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for URB1 Gene

Protein differential expression in normal tissues from HIPED for URB1 Gene

This gene is overexpressed in Synovial fluid (45.5) and Vitreous humor (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for URB1 Gene



Protein tissue co-expression partners for URB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of URB1 Gene:

URB1

SOURCE GeneReport for Unigene cluster for URB1 Gene:

Hs.473611

Evidence on tissue expression from TISSUES for URB1 Gene

  • Blood(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with URB1: view

Primer Products

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 URB1 Gene

Orthologs for URB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for URB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21ORF108 33
  • 99 (a)
OneToOne
URB1 32
  • 99 (n)
dog
(Canis familiaris)
Mammalia URB1 33 32
  • 84.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia URB1 33 32
  • 81.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Urb1 17 33 32
  • 79.31 (n)
rat
(Rattus norvegicus)
Mammalia Urb1 32
  • 78.9 (n)
oppossum
(Monodelphis domestica)
Mammalia URB1 33
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 63 (a)
OneToMany
-- 33
  • 55 (a)
OneToMany
-- 33
  • 48 (a)
OneToMany
-- 33
  • 44 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100857673 32
  • 62.74 (n)
URB1 33
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia URB1 33
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia urb1 32
  • 58.8 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100333650 32
  • 54.9 (n)
URB1 (2 of 2) 33
  • 46 (a)
OneToMany
URB1 (1 of 2) 33
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12499 33
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T05H4.10 33
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 34 (a)
OneToOne
Species where no ortholog for URB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for URB1 Gene

ENSEMBL:
Gene Tree for URB1 (if available)
TreeFam:
Gene Tree for URB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for URB1: view image

Paralogs for URB1 Gene

No data available for Paralogs for URB1 Gene

Variants for URB1 Gene

Sequence variations from dbSNP and Humsavar for URB1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs114530014 likely-benign, Glucocorticoid Deficiency 32,311,866(-) C/T 3_prime_UTR_variant
rs142897309 uncertain-significance, Glucocorticoid Deficiency 32,311,985(-) T/A/C 3_prime_UTR_variant
rs146788457 uncertain-significance, Glucocorticoid Deficiency 32,311,963(-) C/G 3_prime_UTR_variant
rs17855143 likely-benign, Glucocorticoid Deficiency 32,311,867(-) C/G 3_prime_UTR_variant
rs200448756 uncertain-significance, Glucocorticoid Deficiency 32,311,923(-) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for URB1 Gene

Variant ID Type Subtype PubMed ID
esv3307785 CNV mobile element insertion 20981092
esv3405236 CNV insertion 20981092
esv3646883 CNV loss 21293372
nsv1139016 CNV deletion 24896259
nsv510795 CNV deletion 20534489
nsv834084 CNV gain 17160897
nsv834085 CNV gain 17160897

Variation tolerance for URB1 Gene

Gene Damage Index Score: 5.68; 72.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for URB1 Gene

Human Gene Mutation Database (HGMD)
URB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
URB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for URB1 Gene

Disorders for URB1 Gene

Additional Disease Information for URB1

No disorders were found for URB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for URB1 Gene

Publications for URB1 Gene

  1. Ribosome biogenesis protein Urb1 acts downstream of mTOR complex 1 to modulate digestive organ development in zebrafish. (PMID: 29246861) He J … Luo L (Journal of genetics and genomics = Yi chuan xue bao 2017) 2 3 56
  2. NOP132 is required for proper nucleolus localization of DEAD-box RNA helicase DDX47. (PMID: 16963496) Sekiguchi T … Nishimoto T (Nucleic acids research 2006) 3 4 56
  3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 56
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 56
  5. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PMID: 10773462) Slavov D … Gardiner K (Gene 2000) 3 4 56

Products for URB1 Gene

Sources for URB1 Gene