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7737 RNF113A

7737

RNF113A

ring finger protein 113A

protein-coding

Homo sapiens

基因描述

Type Description
Definition ring finger protein 113A

研究结论

Date Results Publications
2021-01-09 13:26:00 A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. 31880405
2021-01-09 13:25:00 Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. 31793730
2020-07-04 12:41:00 RNF113A deficiency circumvents the resistance to Cisplatin and to BCL-2 inhibitors through the destabilization of MCL-1. 32152280
2018-09-01 10:09:00 RNF113A promotes the proliferation, migration and invasiveness of esophageal squamous cell carcinoma (ESCC) cell lines. RNF113A expression in ESCC is associated with a poor prognosis of affected patients. 29393393
2015-02-06 14:39:00 A mutation that resulted in significant reduction of RNF113A protein was implicated in a non-photosensitive form of trichothiodystrophy. Lymphoblastoid cell lines from patients with the mutation in RNF113A had normal DNA damage responses on exposure to mitomycin C, diepoxybutane (DEB), bromodeoxyuridine (BrdU) and irradiation with ultraviolet light. 25612912

名称对应

Type IDs
Synonymous Cwc24, RNF113, TTD5, ZNF183
Gene
UniProtKB-ID: R113A_HUMAN
UniprotKB: O15541
UniParc: UPI000013C310
EMBL: BC000832, AC002477, AK314778, BT007175, BC020556, X98253
Ensembl: ENSG00000125352
KO: hsa:7737
Nucleutide sequences
EMBL-CDS: AAP35839.1, AAH20556.1, BAG37314.1, CAA66907.1, AAB67605.1, AAH00832.1
Ensembl_TRS: ENST00000371442
Protein sequencees
Ensembl_PRO: ENSP00000360497
RefSeq: NP_008909.1
Others
UniRef100: UniRef100_O15541
UniRef90: UniRef90_O15541
UniRef50: UniRef50_O15541
UniGene: Hs.458365
CCDS: CCDS14589.1

全选

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