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

UBAP1
Protein UBAP1 PDB 1wgn.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUBAP1, NAG20, UAP, UBAP, UBAP-1, ubiquitin associated protein 1
External IDsMGI: 2149543 HomoloGene: 9554 GeneCards: UBAP1
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for UBAP1
Genomic location for UBAP1
Band9p13.3Start34,179,005 bp[1]
End34,252,523 bp[1]
RNA expression pattern
PBB GE UBAP1 221490 at fs.png

PBB GE UBAP1 46270 at fs.png
More reference expression data
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

This gene is a member of the UBA domain 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]

Model organismsEdit

Model organisms have been used in the study of UBAP1 function. A conditional knockout mouse line, called Ubap1tm1a(EUCOMM)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty five tests were carried out and two phenotypes were reported. Fewer homozygous mutant embryos were identified during gestation than predicted, and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no significant abnormalities were observed in these animals.[8]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165006 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028437 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: UBAP1 ubiquitin associated protein 1".
  6. ^ "Salmonella infection data for Ubap1". Wellcome Trust Sanger Institute.
  7. ^ "Citrobacter infection data for Ubap1". Wellcome Trust Sanger Institute.
  8. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248): 0. doi:10.1111/j.1755-3768.2010.4142.x.
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium".
  11. ^ "Mouse Genome Informatics".
  12. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  13. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  14. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further readingEdit