UBAP1

UBAP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WGN, 4AE4
Identifiers
Aliases	UBAP1 , NAG20, UAP, UBAP, UBAP-1, ubiquitin associated protein 1, SPG80
External IDs	OMIM: 609787 MGI: 2149543 HomoloGene: 9554 GeneCards: UBAP1
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p13.3 Start 34,179,005 bp [1] End 34,252,523 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 A5 Start 41,348,996 bp [2] End 41,390,525 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle Left adrenal gland islet of Langerhans blood vagina stromal cell of endometrium right lung prefrontal cortex cerebellar hemisphere gastric mucosa Top expressed in blood duodenum esophagus spermatocyte yolk sac intestinal villus mirror neural tube triceps brachii muscle proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin binding protein binding Cellular component cytoplasm cytosol endosome plasma membrane Golgi apparatus ESCRT I complex endosome membrane host cell Biological process protein transport ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway endosomal transport viral life cycle intracellular transport of virus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51271 67123 Ensembl ENSG00000165006 ENSMUSG00000028437 UniProt Q9NZ09 Q8BH48 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 Mb Chr 4: 41.35 – 41.39 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Model organisms

Ubap1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Normal [7]
Citrobacter infection	Normal [8]
All tests and analysis from [9] [10]

Model organisms have been used in the study of UBAP1 function. A conditional knockout mouse line, called Ubap1^{tm1a(EUCOMM)Wtsi [11] [12]} 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. ^{[13] [14] [15]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[9] [16]} 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. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000165006 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028437 - Ensembl, 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. "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.
7. "Salmonella infection data for Ubap1". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Ubap1". Wellcome Trust Sanger Institute.
9. 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. S2CID   85911512.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
14. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
15. 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. S2CID   18872015.
16. van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• Qian J, Yang J, Zhang X, Zhang B, Wang J, Zhou M, et al. (October 2001). "Isolation and characterization of a novel cDNA, UBAP1, derived from the tumor suppressor locus in human chromosome 9p21-22". Journal of Cancer Research and Clinical Oncology. 127 (10): 613–8. doi:10.1007/s004320100252. PMID   11599797. S2CID   3160021.
• Qian J, Zhang XH, Yang JB, Wang JR, Zhang BC, Tang K, Li GY (2001). "Cloning and Expression Analysis of a Novel Gene, UBAP1, Possibly Involved in Ubiquitin Pathway". Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao Acta Biochimica et Biophysica Sinica. 33 (2): 147–152. PMID   12050802.
• Qian J, Zhang XM, Li XL, Wang JR, Li WF, Wang R, Li GY (March 2002). "[Identification of digital differential expression patterns of a novel human gene (UBAP1) by an expressed sequence tag strategy]". AI Zheng = Aizheng = Chinese Journal of Cancer. 21 (3): 225–8. PMID   12451983.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Xiao B, Fan S, Zeng Z, Xiong W, Cao L, Yang Y, et al. (May 2006). "Purification of novel UBAP1 protein and its decreased expression on nasopharyngeal carcinoma tissue microarray". Protein Expression and Purification. 47 (1): 60–7. doi:10.1016/j.pep.2005.08.026. PMID   16226037.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.