UVRAG

UVRAG
Identifikatori
Aliasi	UVRAG
Vanjski ID-jevi	OMIM: 602493 MGI: 1925860 HomoloGene: 31150 GeneCards: UVRAG
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	76,144,232 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	98,790,348 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• SH3 domain binding; • GO:0001948, GO:0016582 vezivanje za proteine; • SNARE binding;
Ćelijska komponenta	• citoplazma; • HOPS complex; • endozom; • late endosome; • centrosom; • hromosom; • midbody; • early endosome; • phagocytic vesicle; • Endoplazmatski retikulum; • DNA-dependent protein kinase complex; • Lizozom; • Primarno suženje; • GO:0009327 makromolekulani kompleks; • autophagosome membrane; • Autofagosom; • GO:0016023 citoplazmatska vezikula;
Biološki proces	• double-strand break repair via classical nonhomologous end joining; • regulation of cytokinesis; • regulation of protein serine/threonine kinase activity; • retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum; • multivesicular body sorting pathway; • hromosomska segregacija; • regulation of vesicle-mediated transport; • receptor catabolic process; • cellular response to DNA damage stimulus; • Autofagija; • GO:0043146 spindle organization; • viral entry into host cell; • maintenance of Golgi location; • GO:0100026 Popravka DNK; • SNARE complex assembly; • positive regulation of autophagosome maturation; • centrosome cycle; • GO:0000046 autophagosome maturation;
	Izvori:Amigo / QuickGO
Ortolozi
	7405
	78610
	ENSG00000198382
	ENSMUSG00000035354
	Q9P2Y5
	Q8K245
	NM_003369
	NM_178635
	NP_003360
	NP_848750
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Rezistenciji na UV-zrake pridruženi protein je protein koji je kod ljudi kodiran genom UVRAG.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 699 aminokiselina, а molekulska težina 78.151 Da.^[7]

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
MSASASVGGP	VPQPPPGPAA	ALPPGSAARA	LHVELPSQQR	RLRHLRNIAA
RNIVNRNGHQ	LLDTYFTLHL	CSTEKIYKEF	YRSEVIKNSL	NPTWRSLDFG
IMPDRLDTSV	SCFVVKIWGG	KENIYQLLIE	WKVCLDGLKY	LGQQIHARNQ
NEIIFGLNDG	YYGAPFEHKG	YSNAQKTILL	QVDQNCVRNS	YDVFSLLRLH
RAQCAIKQTQ	VTVQKIGKEI	EEKLRLTSTS	NELKKKSECL	QLKILVLQNE
LERQKKALGR	EVALLHKQQI	ALQDKGSAFS	AEHLKLQLQK	ESLNELRKEC
TAKRELFLKT	NAQLTIRCRQ	LLSELSYIYP	IDLNEHKDYF	VCGVKLPNSE
DFQAKDDGSI	AVALGYTAHL	VSMISFFLQV	PLRYPIIHKG	SRSTIKDNIN
DKLTEKEREF	PLYPKGGEKL	QFDYGVYLLN	KNIAQLRYQH	GLGTPDLRQT
LPNLKNFMEH	GLMVRCDRHH	TSSAIPVPKR	QSSIFGGADV	GFSGGIPSPD
KGHRKRASSE	NERLQYKTPP	PSYNSALAQP	VTTVPSMGET	ERKITSLSSS
LDTSLDFSKE	NKKKGEDLVG	SLNGGHANVH	PSQEQGEALS	GHRATVNGTL
LPSEQAGSAS	VQLPGEFHPV	SEAELCCTVE	QAEEIIGLEA	TGFASGDQLE
AFNCIPVDSA	VAVECDEQVL	GEFEEFSRRI	YALNENVSSF	RRPRRSSDK

Funkcija

Ovaj gen nadopunjuje osjetljivost ćelija grupe C xeroderma pigmentosum na ultraljubičasto zračenje i kodira protein sa C2 domenom. Protein aktivira beclin1-PI (3) KC3 kompleks, podstičući autofagiju i potiskujući proliferaciju i tumorigenost ljudskih ćelija raka debelog crijeva.

Hromosomske aberacije koje uključuju ovaj gen povezane su s malformacijama lijeve i desne osi, a mutacije u ovom genu povezane su s rakom debelog crijeva.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000198382 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035354 - 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.
^ Perelman B, Dafni N, Naiman T, Eli D, Yaakov M, Feng TL, Sinha S, Weber G, Khodaei S, Sancar A, Dotan I, Canaani D (Jul 1997). "Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus". Genomics. 41 (3): 397–405. doi:10.1006/geno.1997.4623. PMID 9169138.
^ ^a ^b "Entrez Gene: UVRAG UV radiation resistance associated gene".
^ "UniProt, Q9P2Y5". Pristupljeno 29. 8. 2021.

Dopunska literatura

Liang C, Feng P, Ku B, et al. (2007). "UVRAG: a new player in autophagy and tumor cell growth". Autophagy. 3 (1): 69–71. doi:10.4161/auto.3437. PMID 17106237.
Teitz T, Penner M, Eli D, et al. (1990). "Isolation by polymerase chain reaction of a cDNA whose product partially complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells". Gene. 87 (2): 295–298. doi:10.1016/0378-1119(90)90316-J. PMID 2332174.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Bekri S, Adélaïde J, Merscher S, et al. (1998). "Detailed map of a region commonly amplified at 11q13→q14 in human breast carcinoma". Cytogenet. Cell Genet. 79 (1–2): 125–131. doi:10.1159/000134699. PMID 9533029.
Iida A, Emi M, Matsuoka R, et al. (2000). "Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation". Hum. Genet. 106 (3): 277–287. doi:10.1007/s004390051038. PMID 10798355.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Goi T, Kawasaki M, Yamazaki T, et al. (2004). "Ascending colon cancer with hepatic metastasis and cholecystolithiasis in a patient with situs inversus totalis without any expression of UVRAG mRNA: report of a case". Surg. Today. 33 (9): 702–706. doi:10.1007/s00595-002-2567-y. PMID 12928850. S2CID 29935419.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
Ionov Y, Nowak N, Perucho M, et al. (2004). "Manipulation of nonsense mediated decay identifies gene mutations in colon cancer Cells with microsatellite instability". Oncogene. 23 (3): 639–645. doi:10.1038/sj.onc.1207178. PMID 14737099.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Liang C, Feng P, Ku B, et al. (2006). "Autophagic and tumour suppressor activity of a novel Beclin1-binding protein UVRAG". Nat. Cell Biol. 8 (7): 688–698. doi:10.1038/ncb1426. PMID 16799551. S2CID 19739498.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000198382 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035354 - 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.

[pmid9169138-5] Perelman B, Dafni N, Naiman T, Eli D, Yaakov M, Feng TL, Sinha S, Weber G, Khodaei S, Sancar A, Dotan I, Canaani D (Jul 1997). "Molecular cloning of a novel human gene encoding a 63-kDa protein and its sublocalization within the 11q13 locus". Genomics. 41 (3): 397–405. doi:10.1006/geno.1997.4623. PMID 9169138.

[entrez-6] "Entrez Gene: UVRAG UV radiation resistance associated gene".

[UniProt-7] "UniProt, Q9P2Y5". Pristupljeno 29. 8. 2021.

[5]

[6]

[1]

[2]

[3]

[4]

[7]