UPB1 - beta-ureidopropionase 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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51733 UPB1

基因描述

Type	Description
Definition	beta-ureidopropionase 1

研究结论

Date	Results	Publications
2019-07-06 12:01:00	The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in this fabily pedigree.	30512155
2019-04-06 12:58:00	Crystal structure and pH-dependent allosteric regulation of human beta-ureidopropionase, an enzyme involved in anticancer drug metabolism.	29976570
2015-08-01 10:36:00	The c.977G>A (p.R326Q) is the most common mutation of the UPB1 gene in Chinese. The predicted incidence indicates that beta-ureidopropionase deficiency is significantly underdiagnosed in the Chinese population.	25236466
2015-05-16 12:32:00	High prevalence of p.R326Q in the normal Japanese population indicates that betaUP deficiency is not as rare as generally considered	24526388
2014-07-19 10:46:00	This study reports the clinical, biochemical, and molecular analysis of a newly identified patient with beta-ureidopropionase deficiency and the effect of the first synonymous mutation in UBP1 affecting pre-mRNA splicing, using the minigene approach.	24328561

名称对应

Type	IDs
Synonymous	BUP1
Gene	UniProtKB-ID: BUP1_HUMAN, B3KNC1_HUMAN, A0A024R1H3_HUMAN UniprotKB: Q9UBR1, B3KNC1, A0A024R1H3 UniParc: UPI000015F6FC, UPI0000126B4C EMBL: AF169555, AK024277, AF163312, AF169552, AF169553, AF169559, AF169557, AF169558, AF169550, AF169554, CR456375, AF169556, AF169551, BC131703, CH471095, AB013885 Ensembl: ENSG00000100024 KO: hsa:51733
Nucleutide sequences	EMBL-CDS: AAI31704.1, BAA88634.1, AAF06739.1, EAW59663.1, AAF06735.1, CAG30261.1, BAG51283.1, EAW59664.1 Gene_ORFName: hCG_41197 Ensembl_TRS: ENST00000326010
Protein sequencees	Ensembl_PRO: ENSP00000324343 RefSeq: XP_011528526.1, XP_011528527.1, XP_011528525.1, XP_016884317.1, NP_057411.1, XP_016884316.1, XP_011528524.1, XP_016884314.1, XP_016884315.1
Others	UniRef100: UniRef100_B3KNC1, UniRef100_Q9UBR1 UniRef90: UniRef90_A0A2K6TJL1, UniRef90_Q9UBR1 UniRef50: UniRef50_Q9UBR1, UniRef50_Q8VC97 UniGene: Hs.731656 CCDS: CCDS13827.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
30512155	[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Jianbo Shu , Bei Sun , Chao Wang , Rui Pan , Yingtao Meng , Chunhua Zhang , Chunquan Cai , Shuxiang Lin , Yuqin Zhang	2018-12-10	-
29976570	Crystal structure and pH-dependent allosteric regulation of human Î²-ureidopropionase, an enzyme involved in anticancer drug metabolism. Biochem. J. Dirk Maurer , Bernhard Lohkamp , Michael Krumpel , Mikael Widersten , Doreen Dobritzsch	2018-07-31	-
26344197	Panorama of ancient metazoan macromolecular complexes. Nature Cuihong Wan , Blake Borgeson , Sadhna Phanse , Fan Tu , Kevin Drew , Greg Clark , Xuejian Xiong , Olga Kagan , Julian Kwan , Alexandr Bezginov , Kyle Chessman , Swati Pal , Graham Cromar , Ophelia Papoulas , Zuyao Ni , Daniel R Boutz , Snejana Stoilova , Pierre C Havugimana , Xinghua Guo , Ramy H Malty , Mihail Sarov , Jack Greenblatt , Mohan Babu , W Brent Derry , Elisabeth R Tillier , John B Wallingford , John Parkinson , Edward M Marcotte , Andrew Emili	2015-09-17	AKT3, MED6, ABI1, GNPDA1, SRA1, TDRD15, HMGN1P30, PDCD6IP, PDCD6, MED16, ADA, CHAF1A, TOM1, RANBP9, SMC4, ARPC4-TTLL3, RBM14-RBM4, RNF103-CHMP3, CHURC1-FNTB, AP1M2, ISY1-RAB43, UBA2, SAE1, FARSB, DNM1L, ABCF2, COX17, SCAMP2, SCAMP3, DPP3, SNUPN, HUWE1, TSSC4, ATP9A, PQBP1, COL4A3BP, PTGES3L-AARSD1, ARPC5, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, NUBP2, PPIF, LOC101060521, ARPC2, RAD50, ACTR1B, ACTR1A, ADAM8, LRPPRC, PDIA6, TRAP1, BCAP31, NAMPT, RBM12, G3BP1, ABI2, CEBPZ, TRIM28, AASS, ATP6AP2, WASF2, SLC25A13, CDK2, RBM7, ALYREF, TXNDC9, LOC101929876, PSME3, MPHOSPH10, MPHOSPH6, CDK5, NUTF2, EIF1, DDX39A, PSMD14, CDK7, PLIN3, HNRNPR, MRPS31, CDK8, RABEPK, RIDA, SRRM1, CDK9, STAM2, SF3B4, ZMPSTE24, AKAP8, STUB1, STAG1, UBE4B, PRSS16, SIGMAR1, BET1, CWC27, SAP18
25236466	Genetic analysis of the UPB1 gene in two new Chinese families with Î²-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China. Childs Nerv Syst Jianbo Shu , Xiqian Lv , Shuzhen Jiang , Yuqin Zhang , Chunhua Zhang , Yingtao Meng , Aiming Situ , Haiquan Xu , Li Song	2014-12-01	UPB1
24526388	Clinical, biochemical and molecular analysis of 13 Japanese patients with Î²-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]. J. Inherit. Metab. Dis. Yoko Nakajima , Judith Meijer , Doreen Dobritzsch , Tetsuya Ito , Rutger Meinsma , Nico G G M Abeling , Jeroen Roelofsen , Lida Zoetekouw , Yoriko Watanabe , Kyoko Tashiro , Tomoko Lee , Yasuhiro Takeshima , Hiroshi Mitsubuchi , Akira Yoneyama , Kazuhide Ohta , Kaoru Eto , Kayoko Saito , Tomiko Kuhara , AndrÃ© B P van Kuilenburg	2014-09-01	-
24927181	Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Nat Commun Alexander A Navarini , Michael A Simpson , Michael Weale , Jo Knight , Isabelle Carlavan , Pascale Reiniche , David A Burden , Alison Layton , Veronique Bataille , Michael Allen , Robert Pleass , Andrew Pink , Daniel Creamer , John English , Stephanie Munn , Shernaz Walton , Acne Genetic Study Group , Carolyn Willis , Sophie DÃ©ret , Johannes J Voegel , Tim Spector , Catherine H Smith , Richard C Trembath , Jonathan N Barker	2014-06-13	-
23376485	Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. J Proteomics Marco Prunotto , Annarita Farina , Lydie Lane , AgnÃ¨s Pernin , JÃ¼rg Schifferli , Denis F Hochstrasser , Pierre Lescuyer , Solange Moll	2013-04-26	CDH2, GNPDA1, C1orf68, PDCD6IP, PDCD6, TOM1L1, CDH6, IL18BP, DPP3, SNUPN, ARPC5, CDH11, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, TSPAN1, ARPC2, ACTR1B, ACTR1A, CDH13, PDIA6, TRAP1, PDZK1IP1, ATP6AP2, DHRS2, NUTF2, FLOT1, PSMD14, RIDA, GLYAT, ZMPSTE24, STUB1, RTN3, LANCL1, CRISP3, SIRPB1, AKR1A1, TFG, TUBA1B, BPNT1, TUBB4B, BTN2A2, NDRG1, RACK1, ST3GAL6, CPQ, WFDC2, BASP1, IFITM3, CDSN, LYPLA1, FAM3C, ACAA2, VAV3, TOMM40, BAIAP2, ATP5H, CEACAM5, CAP1, VAT1, FBLN5, CIB1, GLRX3, PROCR, ARL6IP5, ARPC1A, OLFM4, CEL, CCT7, CCT4, CCT2, NPC2, DNPH1, PAICS, MYL12A, ATP5L, YKT6, PMVK, GNA13, B3GNT2, CCT8, CETP, CFL1, PTGES3, RBBP9, MASP2, CTSC, GIPC1, AHCYL1, IQGAP2, VAMP5, CFTR, ALDH1L1, FTCD, RUVBL2, PGRMC1, FGL2
24328561	Identification of a novel synonymous mutation in the human Î² -Ureidopropionase Gene UPB1 affecting pre-mRNA splicing. Nucleosides Nucleotides Nucleic Acids J Meijer , Y Nakajima , C Zhang , R Meinsma , T Ito , A B P Van Kuilenburg	2013-01-01	UPB1
22525402	Ã-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim. Biophys. Acta AndrÃ© B P van Kuilenburg , Doreen Dobritzsch , Judith Meijer , Michael Krumpel , Laila A Selim , Mohamed S Rashed , Birgit Assmann , Rutger Meinsma , Bernhard Lohkamp , Tetsuya Ito , Nico G G M Abeling , Kayoko Saito , Kaoru Eto , Martin Smitka , Martin Engvall , Chunhua Zhang , Wang Xu , Lida Zoetekouw , Raoul C M Hennekam	2012-07-01	UPB1
23238479	Contribution of the Î²-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity. Pharmacol Rep Julie Fidlerova , Petra Kleiblova , Stanislav Kormunda , Jan Novotny , Zdenek Kleibl	2012-01-01	-

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