RNPC3 (RNA binding region (RNP1, RRM) containing 3)

2014-11-01  

Identity

HGNC
LOCATION
1p21.1
LOCUSID
ALIAS
IGHD5,RBM40,RNP,SNRNP65
FUSION GENES

Other Information

Locus ID:

NCBI: 55599
MIM: 618016
HGNC: 18666
Ensembl: ENSG00000185946

Variants:

dbSNP: 55599
ClinVar: 55599
TCGA: ENSG00000185946
COSMIC: RNPC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185946ENST00000423855Q96LT9
ENSG00000185946ENST00000524631Q96LT9
ENSG00000185946ENST00000524641H0YEB8
ENSG00000185946ENST00000527062E9PPV2
ENSG00000185946ENST00000531883X6RLP6
ENSG00000185946ENST00000532117H0YE07
ENSG00000185946ENST00000533099Q96LT9

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

References

Pubmed IDYearTitleCitations
160966472005The U11/U12 snRNP 65K protein acts as a molecular bridge, binding the U12 snRNA and U11-59K protein.28
244805422014Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.25
292550622018Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.4
275105442016U6atac snRNA stem-loop interacts with U12 p65 RNA binding protein and is functionally interchangeable with the U12 apical stem-loop III.3

Citation

Dessen P

RNPC3 (RNA binding region (RNP1, RRM) containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72720/rnpc3