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4439 MSH5

4439

MSH5

mutS homolog 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition mutS homolog 5

研究结论

Date Results Publications
2020-08-01 10:12:00 Decreased expression of HCP5 in biochemical premature ovarian insufficiency (bPOI) contributed to dysfunctional granulosa cells by regulating MSH5 transcription and DNA damage repair via the interaction with YB1, providing a novel epigenetic mechanism for POI pathogenesis. 32112110
2017-10-28 11:28:00 Findings indicate that carriers of the MSH5 rs707939 T allele, the MSH2 rs6544991 C allele, the MSH3 rs6151627 and rs6151670 G alleles, and the MSH3 rs7709909 T allele have poor toxicity tolerance to platinum-based chemotherapy in non-small cell lung cancer patients. 28093084
2017-05-20 11:23:00 From sanger sequencing of MSH5 in 200 sporadic POI patients, we identified three heterozygous mutations . Considering the heterozygous p.D487Y carrier in the POI pedigree was fertile, the causality of the three heterozygous mutations in POI need more evidence 28175301
2015-10-24 11:31:00 our data point to the existence of a functional interplay between hMSH5 and FANCJ in double-strand break repair induced by replication stress. 26055704
2014-04-12 10:46:00 the roles of hMSH5 variants in the processes of DNA damage response and repair 24023853

名称对应

Type IDs
Synonymous G7, MUTSH5, NG23, POF13
Gene
UniProtKB-ID: MSH5_HUMAN, A0A024RCV6_HUMAN, A0A024RCM1_HUMAN
UniprotKB: O43196, A0A024RCV6, A0A024RCM1
UniParc: UPI0000074560, UPI000013D6DA, UPI0000070722, UPI000012F5F7
EMBL: AF048990, AF048991, AF048988, AF070076, AF070072, BA000025, AF070079, AF070074, CR936239, KY500473, CH471081, AL662834, CR925765, AF070073, KY500465, AF070075, BC001358, AF048986, AF034759, AF070077, AF070071, AF070078, AF048989, AL662899, KY500471, AF134726, BT007200, AY943816, BC041031, CR759787, BC002498, AF129756, KY500468
Ensembl: ENSG00000204410, ENSG00000230961, ENSG00000230293, ENSG00000227314, ENSG00000235222
KO: hsa:4439
Nucleutide sequences
EMBL-CDS: AAH02498.1, AAC62534.1, AAX20111.1, AAH41031.1, AAC70067.1, AAD21822.1, AAD18072.1, AAC62533.1, EAX03514.1, AAH01358.1, AAB87632.1, AAC70066.1, BAB63375.1, AAP35864.1, EAX03512.1, EAX03515.1, AQY76938.1, EAX03513.1, EAX03518.1, AQY76946.1, AQY76944.1, EAX03516.1, AQY76941.1
Gene_ORFName: hCG_2001570, hCG_2001570
Ensembl_TRS: ENST00000436091, ENST00000375750, ENST00000375740, ENST00000448617, ENST00000427735, ENST00000416549, ENST00000441395, ENST00000436192, ENST00000375703, ENST00000412070, ENST00000457742, ENST00000375755, ENST00000420731, ENST00000435700, ENST00000441401, ENST00000419269, ENST00000456839
Protein sequencees
Ensembl_PRO: ENSP00000409181, ENSP00000394649, ENSP00000406868, ENSP00000364855, ENSP00000364903, ENSP00000364892, ENSP00000406269, ENSP00000396509, ENSP00000400187, ENSP00000364908, ENSP00000388037, ENSP00000394017, ENSP00000404892, ENSP00000407047, ENSP00000387609, ENSP00000399721, ENSP00000402659
RefSeq: NP_002432.1, NP_079535.4, NP_751897.1, NP_751898.1
Others
UniRef100: UniRef100_A0A024RCV6, UniRef100_O43196
UniRef90: UniRef90_O43196, UniRef90_O43196-4
UniRef50: UniRef50_O43196
UniGene: Hs.647011
CCDS: CCDS4720.1, CCDS34410.1, CCDS34409.2

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