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55599 RNPC3

55599

RNPC3

RNA binding region (RNP1, RRM) containing 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition RNA binding region (RNP1, RRM) containing 3

研究结论

Date Results Publications
2018-07-07 10:51:00 The authores propose that both the C-RRM folding defect and nonsense-mediated decay (NMD)-mediated decrease in the levels of the U11/U12-65K protein reduce formation of the U12-type intron recognition complex and missplicing of a subset of minor introns leading to pituitary hypoplasia and a subsequent defect in growth hormone secretion. 29255062
2018-06-02 11:10:00 Study shows that the C-terminal RNA recognition motif of p65 binds to the distal 3' stem-loop of U6atac. By using a binary splice site mutation suppressor assay, results demonstrate that p65 protein-binding apical stem-loop of U12 snRNA can be replaced by this U6atac distal 3' stem-loop. 27510544
2014-11-08 10:16:00 Exome analysis of one proband revealed missense (c.1320C>A, p.P474T) and nonsense (c.1504C>T, p.R502X) mutations in the RNPC3 gene. 24480542
2010-01-21 00:00:00 U11/U12-65K contribute to di-snRNP formation and intron bridging in the minor prespliceosome 16096647

名称对应

Type IDs
Synonymous IGHD5, RBM40, RNP, SNRNP65
Gene
UniProtKB-ID: RNPC3_HUMAN
UniprotKB: Q96LT9
UniParc: UPI000006E703, UPI00015DA56A
EMBL: CH471097, AL137730, BC010697, AK057799, AK289844, BX322653, AY099329, AC105272, AB058742, BK005195, AC095032, AK000015
Ensembl: ENSG00000185946
KO: hsa:55599
Nucleutide sequences
EMBL-CDS: EAW72905.1, BAB47468.1, AAH10697.2, BAA90885.1, EAW72906.1, CAB70897.2, EAW72901.1, BAF82533.1, AAM45139.1, BAB71580.1, DAA05493.1
Ensembl_TRS: ENST00000524631, ENST00000533099, ENST00000423855
Protein sequencees
Ensembl_PRO: ENSP00000391432, ENSP00000432886, ENSP00000437278
RefSeq: NP_060089.1
Others
UniRef100: UniRef100_Q96LT9
UniRef90: UniRef90_Q96LT9
UniRef50: UniRef50_Q96LT9
UniGene: Hs.632423
CCDS: CCDS781.1

全选

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