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UBAP1

From Wikipedia, the free encyclopedia
UBAP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUBAP1, NAG20, UAP, UBAP, UBAP-1, ubiquitin associated protein 1, SPG80
External IDsOMIM: 609787; MGI: 2149543; HomoloGene: 9554; GeneCards: UBAP1; OMA:UBAP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001171201
NM_001171202
NM_001171203
NM_001171204
NM_016525

NM_001290454
NM_023305
NM_001355508
NM_001355509

RefSeq (protein)

NP_001164672
NP_001164673
NP_001164674
NP_001164675
NP_057609

NP_001277383
NP_075794
NP_001342437
NP_001342438

Location (UCSC)Chr 9: 34.18 – 34.25 MbChr 4: 41.35 – 41.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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  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.

Further reading

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