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4913 NTHL1

4913

NTHL1

nth like DNA glycosylase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition nth like DNA glycosylase 1

研究结论

Date Results Publications
2021-04-17 13:17:00 Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer. 32860789
2021-03-28 19:07:00 NTHL1 in genomic integrity, aging and cancer. 33087284
2021-03-27 14:39:00 An Excimer Clamp for Measuring Damaged-Base Excision by the DNA Repair Enzyme NTH1. 32109332
2020-10-31 13:18:00 NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. 31227763
2019-12-21 11:39:00 The results suggest that the NTHL1 variants Q90X, Y130X, R153X, and Q287X, but not R19Q, V179I, V217F, or G286S, were defective in 5OHU repair and the alleles encoding them were considered to be pathogenic for NTHL1-associated polyposis. 30552997

名称对应

Type IDs
Synonymous FAP3, NTH1, OCTS3, hNTH1
Gene
UniProtKB-ID: NTH_HUMAN, E5KTI5_HUMAN
UniprotKB: P78549, E5KTI5
UniParc: UPI00001498A7, UPI0000130586, UPI00001498BC
EMBL: HQ206277, HQ206283, HQ206272, HQ206292, HQ206286, HQ206297, HQ206288, HQ206273, HQ206279, AB014460, HQ206291, HQ206303, BC003014, HQ206280, Y09687, HQ206266, BC000391, HQ206295, U81285, HQ206304, HQ206293, HQ206270, HQ206282, HQ206300, HQ206299, HQ206274, HQ206301, U79718, HQ206275, AC005600, HQ206302, HQ206290, HQ206271, HQ206285, CH471112, HQ206298, HQ206289, AF498098, HQ206305, HQ206278, HQ206281, HQ206296, AB001575, HQ206267, HQ206276, HQ206268, HQ206269, HQ206287, HQ206294, HQ206284
Ensembl: ENSG00000065057
KO: hsa:4913
Nucleutide sequences
EMBL-CDS: AAB41534.1, AAH03014.1, BAA32695.1, AAM11786.1, CAA70865.1, AAC34209.1, AAH00391.2, AAC51136.1, BAA19413.1, ADP92236.1, ADP92250.1, ADP92226.1, ADP92222.1, ADP92238.1, ADP92235.1, ADP92252.1, ADP92221.1, ADP92253.1, ADP92229.1, ADP92243.1, ADP92223.1, ADP92225.1, ADP92219.1, ADP92218.1, ADP92247.1, ADP92246.1, ADP92227.1, ADP92216.1, ADP92234.1, ADP92232.1, ADP92214.1, ADP92233.1, ADP92224.1, ADP92230.1, ADP92237.1, ADP92217.1, ADP92241.1, ADP92244.1, ADP92249.1, ADP92240.1, ADP92215.1, ADP92242.1, ADP92228.1, ADP92248.1, ADP92239.1, ADP92231.1, EAW85562.1, ADP92245.1, ADP92220.1, ADP92251.1
Gene_ORFName: hCG_1989994
Ensembl_TRS: ENST00000219066, ENST00000651570
Protein sequencees
Ensembl_PRO: ENSP00000219066, ENSP00000498421
RefSeq: NP_001305123.1, NP_002519.2, NP_001305122.2
Others
UniRef100: UniRef100_P78549
UniRef90: UniRef90_P78549
UniRef50: UniRef50_P78549
UniGene: Hs.66196
CCDS: CCDS10457.1

全选

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研究热度

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