Ubiquitin-associated protein 1 is a protein that in humans is encoded by the UBAP1 gene.[5]

This gene is a member of the ubiquitin-associated domain (UBA) family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin-binding domain consisting of a compact three-helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas.[5] Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165006Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028437Ensembl, 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. ^ a b "Entrez Gene: UBAP1 ubiquitin associated protein 1".
  6. ^ Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, et al. (April 2019). "Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia". American Journal of Human Genetics. 104 (4): 767–773. doi:10.1016/j.ajhg.2019.03.001. PMC 6451742. PMID 30929741.

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