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Ubiquitin B

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(Redirected from UBB (gene))

UBB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUBB, HEL-S-50, Ubiquitin B
External IDsOMIM: 191339; MGI: 98888; HomoloGene: 75104; GeneCards: UBB; OMA:UBB - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011664
NM_001313984

RefSeq (protein)

NP_001300913
NP_035794

Location (UCSC)Chr 17: 16.38 – 16.38 MbChr 11: 62.44 – 62.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ubiquitin is a protein that in humans is encoded by the UBB gene.[5]

Function

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Ubiquitin is one of the most conserved proteins known in eukaryotic organisms. Ubiquitin is required for ATP-dependent, non-lysosomal intracellular protein degradation of abnormal proteins and normal proteins with a rapid turnover. Ubiquitin is covalently bound to proteins to be degraded, and presumably labels these proteins for degradation. Ubiquitin also binds to histone H2A in actively transcribed regions but does not cause histone H2A degradation, suggesting that ubiquitin is also involved in regulation of gene expression. 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. Aberrant form of this protein (UBB+1) has been noticed in patients with Alzheimer's disease, Down syndrome, other tauopathies (e.g. Pick's disease) and polyglutamine disease (e.g. Huntington's disease).[6][7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170315Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019505Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Webb GC, Baker RT, Fagan K, Board PG (Mar 1990). "Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12". Am J Hum Genet. 46 (2): 308–15. PMC 1684968. PMID 2154095.
  6. ^ Fischer DF, De Vos RA, Van Dijk R, De Vrij FM, Proper EA, Sonnemans MA, Verhage MC, Sluijs JA, Hobo B, Zouambia M, Steur EN, Kamphorst W, Hol EM, Van Leeuwen FW (Nov 2003). "Disease-specific accumulation of mutant ubiquitin as a marker for proteasomal dysfunction in the brain". FASEB J. 17 (14): 2014–2024. doi:10.1096/fj.03-0205com. PMID 14597671. S2CID 10932825.
  7. ^ "Entrez Gene: UBB ubiquitin B".

Further reading

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