UBAP1

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Template:Short description Template:Infobox gene Ubiquitin-associated protein 1 is a protein that in humans is encoded by the UBAP1 gene.[1]

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.[1] Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.[2]

References

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Further reading

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