UBAP1

UBAP1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1WGN, 4AE4
Identifikatori
Aliasi	UBAP1
Vanjski ID-jevi	OMIM: 609787 MGI: 2149543 HomoloGene: 9554 GeneCards: UBAP1
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	34,252,523 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	41,390,525 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• ubiquitin binding; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• citoplazma; • citosol; • endozom; • ćelijska membrana; • Golđijev aparat; • ESCRT I complex; • endosome membrane; • host cell;
Biološki proces	• protein transport; • ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; • endosomal transport; • GO:0019067 viral life cycle; • GO:0046795 intracellular transport of virus;
	Izvori:Amigo / QuickGO
Ortolozi
	51271
	67123
	ENSG00000165006
	ENSMUSG00000028437
	Q9NZ09
	Q8BH48
	NM_001171201; NM_001171202; NM_001171203; NM_001171204; NM_016525
	NM_001290454; NM_023305; NM_001355508; NM_001355509
	NP_001164672; NP_001164673; NP_001164674; NP_001164675; NP_057609
	NP_001277383; NP_075794; NP_001342437; NP_001342438
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Ubikvitinu-pridruženi protein 1 je protein koji je kod ljudi kodiran genom UBAP1.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 502 aminokiseline, a molekulska težina 55.084 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MASKKLGADF	HGTFSYLDDV	PFKTGDKFKT	PAKVGLPIGF	SLPDCLQVVR
EVQYDFSLEK	KTIEWAEEIK	KIEEAEREAE	CKIAEAEAKV	NSKSGPEGDS
KMSFSKTHST	ATMPPPINPI	LASLQHNSIL	TPTRVSSSAT	KQKVLSPPHI
KADFNLADFE	CEEDPFDNLE	LKTIDEKEEL	RNILVGTTGP	IMAQLLDNNL
PRGGSGSVLQ	DEEVLASLER	ATLDFKPLHK	PNGFITLPQL	GNCEKMSLSS
KVSLPPIPAV	SNIKSLSFPK	LDSDDSNQKT	AKLASTFHST	SCLRNGTFQN
SLKPSTQSSA	SELNGHHTLG	LSALNLDSGT	EMPALTSSQM	PSLSVLSVCT
EESSPPNTGP	TVTPPNFSVS	QVPNMPSCPQ	AYSELQMLSP	SERQCVETVV
NMGYSYECVL	RAMKKKGENI	EQILDYLFAH	GQLCEKGFDP	LLVEEALEMH
QCSEEKMMEF	LQLMSKFKEM	GFELKDIKEV	LLLHNNDQDN	ALEDLMARAG
AS

Funkcija

Ovaj gen je član domena povezanog s ubikvitinom (UBA), čiji članovi uključuju proteine koji imaju veze sa ubikvitinom i ubikvitinacijskim putem. Smatra se da je domen nekovalentno povezan s ubikvitinom ubikvitin-vezujućim domenom, koji se sastoji od kompaktnog triheliksnog snopa. Ovaj specifični protein potiče iz genskog lokusa u rafiniranoj regiji na hromosomu 9 koji prolazi gubitak heterozigotnosti u nazofaruinksniom karcinomu (NPC). Uzimajući u obzir njegovu citogenetičku lokaciju, ovaj član porodice domena UBA proučava se kao navodna meta za mutaciju u nazofarinksnim karcinomima.^[5] Skraćivanje mutacija u UBAP1 uzrokuje nasljednu spastičnu paraplegiju.^[7]

Modelni organizmi

Fenotip *Ubap1* nokaut-miševa
Svojstvo	Fenotip
Vijabilnost homozigota	Nenormalan
Studija recesivne letalnosti	Nenormalan
Plodnost	Normalan
Tjelesna težina	Normalan
Anksioznost otvorenog polja	Normalan
Neurološka procjena	Normalan
Snaga stiska	Normalan
Test vruće ploče	Normalan
Dismorfologija	Normalan
Indirect calorimetry	Normalan
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog stabla	Normalan
DEXA	Normalan
Radiografija	Normalan
Tjelesna temperatura	Normalan
Morfologija oka	Normalan
Klinička hemija	Normalan
Plazmatski imunoglobulini	Normalan
Hematologija	Normalan
Leukociti periferne krvi	Normalan
Mikronukleus test	Normalan
Težina srca	Normalan
Histopatologija mozga	Normalan
Salmonellaska infekcija	Normalan^[8]
Citrobacterska infekcija	Normalan^[9]
Svi testovi I analize su prema izvoru:^[10]^[11]

U studiji funkcije UBAP1 upotrebljeni su i modelni orgamnizmi. Uvjetna linija nokaut-miševa zvana Ubap1^{tm1a(EUCOMM)Wtsi}^[12]^[13] generirana je kao doo programa Međunarodnog konzorcija za nokaut-miševe – visokopropusnog projekrta mutageneze za generiranje I didtribuiciju modela na Wellcome Trust Sanger Institute, za životinjske bolesti zainteresiranim naučnicima.^[14]^[15]^[16]

Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu, kako bi se utvrdili efekti delecija.^[10]^[17] Izvedeno je 25 testova, a prijavljena su dva nenormalna fenotipa. Manje homozigotnih mutantnih embriona identificirano je tokom gestacije od predviđenih, a nijedan nije preživio do odbićanja. Preostali testovi su provedeni na heterozigotnim mutantnim odraslim miševima; kod ovih životinja nisu uočene značajne abnormalnosti.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165006 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028437 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: UBAP1 ubiquitin associated protein 1".
^ "UniProt, Q9NZ09". Pristupljeno 10. 9. 2021.
^ 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.
^ "Salmonella infection data for Ubap1". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Ubap1". Wellcome Trust Sanger Institute.
^ ^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. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium". Arhivirano s originala, 20. 3. 2012. Pristupljeno 10. 9. 2021.
^ "Mouse Genome Informatics".
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (juni 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.
^ Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ van der Weyden L, White JK, Adams DJ, Logan DW (juni 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.

Dopumska literatura

Maruyama K, Sugano S (januar 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 (oktobar 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 (novembar 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. (mart 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 (septembar 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. (oktobar 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 (mart 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. (oktobar 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. (maj 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. (januar 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165006 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028437 - Ensembl, maj 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.

[entrez-5] "Entrez Gene: UBAP1 ubiquitin associated protein 1".

[UniProt-6] "UniProt, Q9NZ09". Pristupljeno 10. 9. 2021.

[7] 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.

[''Salmonella''_infection-8] "Salmonella infection data for Ubap1". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for Ubap1". Wellcome Trust Sanger Institute.

[mgp_reference-10] 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.

[11] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-12] "International Knockout Mouse Consortium". Arhivirano s originala, 20. 3. 2012. Pristupljeno 10. 9. 2021.

[mgi_allele_ref-13] "Mouse Genome Informatics".

[pmid21677750-14] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, et al. (juni 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.

[mouse_library-15] Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-16] Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid21722353-17] van der Weyden L, White JK, Adams DJ, Logan DW (juni 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.

[1]