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Aliases for UBB Gene

Aliases for UBB Gene

  • Ubiquitin B 2 3 5
  • Polyubiquitin B 2 3
  • Epididymis Secretory Protein Li 50 3
  • HEL-S-50 3

External Ids for UBB Gene

Previous GeneCards Identifiers for UBB Gene

  • GC17P016646
  • GC17P017395
  • GC17P016227
  • GC17P016484
  • GC17P016225
  • GC17P016150

Summaries for UBB Gene

Entrez Gene Summary for UBB Gene

  • This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for UBB Gene

UBB (Ubiquitin B) is a Protein Coding gene. Diseases associated with UBB include cleft palate, isolated and down syndrome. Among its related pathways are Gene Expression and Signaling by GPCR. An important paralog of this gene is UBD.

UniProtKB/Swiss-Prot for UBB Gene

  • Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.

Gene Wiki entry for UBB Gene

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

Genomics for UBB Gene

Regulatory Elements for UBB Gene

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

ENSRs around UBB on UCSC Golden Path with GeneCards custom track

Genomic Location for UBB Gene

Chromosome:
17
Start:
16,380,793 bp from pter
End:
16,382,745 bp from pter
Size:
1,953 bases
Orientation:
Plus strand

Genomic View for UBB Gene

Genes around UBB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UBB Gene

Proteins for UBB Gene

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

    Protein Symbol:
    P0CG47-UBB_HUMAN
    Recommended name:
    Polyubiquitin-B
    Protein Accession:
    P0CG47
    Secondary Accessions:
    • P02248
    • P02249
    • P02250
    • P62988
    • Q29120
    • Q6LBL4
    • Q6LDU5
    • Q8WYN8
    • Q91887
    • Q91888
    • Q9BWD6
    • Q9BX98
    • Q9UEF2
    • Q9UEG1
    • Q9UEK8
    • Q9UPK7

    Protein attributes for UBB Gene

    Size:
    229 amino acids
    Molecular mass:
    25762 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • For a better understanding, features related to ubiquitin are only indicated for the first chain.
    • The mRNA encoding variant UBB(+1) is produced by an unknown mechanism involving the deletion of a GT dinucleotide in the close proximity of a GAGAG motif (PubMed:9422699). This variant mRNA is found in normal brain, but the encoded protein accumulates only in brain neurofibrillary tangles and neuritic plaques in Alzheimer disease and other tauopathies, as well as polyglutaminopathies (PubMed:14597671). UBB(+1) variant cannot be used for polyubiquitination, is not effectively degraded by the proteasome when ubiquitinated and ubiquitinated UBB(+1) is refractory to disassembly by deubiquitinating enzymes (DUBs). In healthy brain, UBB(+1) C-terminus can be cleaved by UCHL3 (PubMed:21762696).
    • Ubiquitin is encoded by 4 different genes. UBA52 and RPS27A genes code for a single copy of ubiquitin fused to the ribosomal proteins L40 and S27a, respectively. UBB and UBC genes code for a polyubiquitin precursor with exact head to tail repeats, the number of repeats differ between species and strains.

    Three dimensional structures from OCA and Proteopedia for UBB Gene

neXtProt entry for UBB Gene

Proteomics data for UBB Gene at MOPED

Post-translational modifications for UBB Gene

  • Ubiquitin: Phosphorylated at Ser-65 by PINK1 during mitophagy. Phosphorylated ubiquitin specifically binds and activates parkin (PARK2), triggering mitophagy (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291). Phosphorylation does not affect E1-mediated E2 charging of ubiquitin but affects discharging of E2 enzymes to form polyubiquitin chains. It also affects deubiquitination by deubiquitinase enzymes such as USP30 (PubMed:25527291).
  • Ubiquitination at Lys 6, Lys 11, Lys 27, Lys 29, Lys 33, Lys 48, and Lys 63
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBB (UBB)

No data available for DME Specific Peptides for UBB Gene

Domains & Families for UBB Gene

Protein Domains for UBB Gene

Graphical View of Domain Structure for InterPro Entry

P0CG47

UniProtKB/Swiss-Prot:

UBB_HUMAN :
  • Contains 3 ubiquitin-like domains.
  • Belongs to the ubiquitin family.
Domain:
  • Contains 3 ubiquitin-like domains.
Family:
  • Belongs to the ubiquitin family.
genes like me logo Genes that share domains with UBB: view

No data available for Gene Families for UBB Gene

Function for UBB Gene

Molecular function for UBB Gene

GENATLAS Biochemistry:
poly-ubiquitin,gene B,encoding 3 ubiquitin units
UniProtKB/Swiss-Prot Function:
Ubiquitin: Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in lysosomal degradation; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.
genes like me logo Genes that share phenotypes with UBB: view

Human Phenotype Ontology for UBB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for UBB Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBB Gene

Ubiquitin: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UBB Gene COMPARTMENTS Subcellular localization image for UBB gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 5
nucleus 5
plasma membrane 5
endosome 4

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

Pathways & Interactions for UBB Gene

SuperPathways for UBB Gene

Superpath Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
.78
2 Interleukin-3, 5 and GM-CSF signaling
3 MyD88 cascade initiated on plasma membrane
4 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
5 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
genes like me logo Genes that share pathways with UBB: view

Gene Ontology (GO) - Biological Process for UBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS --
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000187 activation of MAPK activity TAS --
genes like me logo Genes that share ontologies with UBB: view

No data available for SIGNOR curated interactions for UBB Gene

Drugs & Compounds for UBB Gene

(1) Drugs for UBB Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(4s)-5-Fluoro-L-Leucine Experimental Pharma Target 0
genes like me logo Genes that share compounds with UBB: view

Transcripts for UBB Gene

Unigene Clusters for UBB Gene

Ubiquitin B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c
SP1: - - -
SP2: -
SP3:

Relevant External Links for UBB Gene

GeneLoc Exon Structure for
UBB
ECgene alternative splicing isoforms for
UBB

Expression for UBB Gene

mRNA expression in normal human tissues for UBB Gene

mRNA differential expression in normal tissues according to GTEx for UBB Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for UBB Gene

This gene is overexpressed in Heart (30.0), Brain (21.8), and Skin (14.4).

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



SOURCE GeneReport for Unigene cluster for UBB Gene Hs.356190

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

Protein tissue co-expression partners for UBB Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for UBB Gene

Orthologs for UBB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBB Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia UBB 35
  • 94.76 (n)
  • 99.56 (a)
UBB 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBB 35
  • 99.27 (n)
  • 100 (a)
UBB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBB 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBB 36
  • 43 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubb 36
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves UBB 35
  • 88.01 (n)
  • 100 (a)
UBB 36
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 10 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii UBC 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG18282 37
  • 97 (a)
Ubi-p63E 37
  • 100 (a)
CG11700 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ubq-1 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPL40A 36
  • 70 (a)
ManyToMany
RPL40B 36
  • 70 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons UBQ11 35
  • 79.53 (n)
  • 96.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
ManyToMany
Species with no ortholog for UBB:
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UBB Gene

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

Paralogs for UBB Gene

Paralogs for UBB Gene

Pseudogenes.org Pseudogenes for UBB Gene

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

Variants for UBB Gene

Sequence variations from dbSNP and Humsavar for UBB Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs14261 -- 16,382,672(+) TAAGT(C/T)TAGAA utr-variant-3-prime
rs14660 -- 16,382,686(+) ACAAG(G/T)TTCNG utr-variant-3-prime
rs1060079 -- 16,382,069(+) GGCCG(C/T)ACTCT reference, synonymous-codon
rs1060199 -- 16,382,234(+) GATAA(A/G)GAAGG reference, synonymous-codon
rs1061290 -- 16,382,641(+) TTACT(C/T)TGCAC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2715702 CNV Deletion 23290073

Variation tolerance for UBB Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBB Gene

HapMap Linkage Disequilibrium report
UBB

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

Disorders for UBB Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBB Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cleft palate, isolated
  • cleft palate
down syndrome
  • complete trisomy 21 syndrome
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search UBB in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBB

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

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

Publications for UBB Gene

  1. Lineage-specific homogenization of the polyubiquitin gene among human and great apes. (PMID: 14745543) Tachikui H. … Inoue I. (J. Mol. Evol. 2003) 3 4 23 67
  2. Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12. (PMID: 2154095) Webb G.C. … Board P.G. (Am. J. Hum. Genet. 1990) 2 3 23
  3. Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease. (PMID: 20205790) Kajiwara Y. … Buxbaum J.D. (Mol Neurodegener 2010) 3 23
  4. The temporal localization of frame-shift ubiquitin-B and amyloid precursor protein, and complement proteins in the brain of non-demented control patients with increasing Alzheimer's disease pathology. (PMID: 12893422) Konishi Y. … Shen Y. (Neurosci. Lett. 2003) 3 23
  5. Frameshift mutants of beta amyloid precursor protein and ubiquitin-B in Alzheimer's and Down patients. (PMID: 9422699) van Leeuwen F.W. … Hol E.M. (Science 1998) 3 23

Products for UBB Gene

Sources for UBB Gene

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