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6165 RPL35A

6165

RPL35A

ribosomal protein L35a

protein-coding

Homo sapiens

基因描述

Type Description
Definition ribosomal protein L35a

研究结论

Date Results Publications
2017-12-02 11:18:00 We identified 85 overlapping deletions, of which six included the RPL35A gene and all should be had Diamond-Blackfan anemia (DBA).we sequenced the remaining RNF168 gene and examined her fibroblast culture for a DNA double strand break repair deficiency. These results were normal, indicating that the immunodeficiency is unlikely to result from a RNF168 deficiency. 28432740
2012-05-26 10:45:00 Data show 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion. 22262766
2012-03-24 11:13:00 Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A. 22045982
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-06-30 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 20378560

名称对应

Type IDs
Synonymous DBA5, L35A, eL33
Gene
UniProtKB-ID: RL35A_HUMAN
UniprotKB: P18077
UniParc: UPI0000001685
EMBL: BC001037, BC061890, AY871273, CH471252, BC010949, X52966, BC017093, X94619
Ensembl: ENSG00000182899
KO: hsa:6165
Nucleutide sequences
EMBL-CDS: AAH10949.1, AAH61890.1, AAX11429.1, CAA37138.1, AAH01037.1, AAH17093.1, EAW92249.1, CAA64325.1
Gene_ORFName: GIG33
Ensembl_TRS: ENST00000448864, ENST00000647248
Protein sequencees
Ensembl_PRO: ENSP00000393393, ENSP00000495672
RefSeq: NP_000987.2, NP_001303240.1
Others
UniRef100: UniRef100_P18077
UniRef90: UniRef90_P18077
UniRef50: UniRef50_P18077
UniGene: Hs.529631
CCDS: CCDS33930.1

全选

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