SNU13 (small nuclear ribonucleoprotein 13)

2015-09-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
15.5K,FA-1,FA1,NHP2L1,NHPX,OTK27,SNRNP15-5,SPAG12,SSFA1
FUSION GENES

Other Information

Locus ID:

NCBI: 4809
MIM: 601304
HGNC: 7819
Ensembl: ENSG00000100138

Variants:

dbSNP: 4809
ClinVar: 4809
TCGA: ENSG00000100138
COSMIC: SNU13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100138ENST00000215956P55769
ENSG00000100138ENST00000215956Q6FHM6
ENSG00000100138ENST00000401959P55769
ENSG00000100138ENST00000401959Q6FHM6
ENSG00000100138ENST00000402458B1AHD1
ENSG00000100138ENST00000463675A0A3B3IRU2
ENSG00000100138ENST00000469028A0A3B3ISH1
ENSG00000100138ENST00000469522A0A3B3ISH9
ENSG00000100138ENST00000648350A0A3B3IUA2
ENSG00000100138ENST00000648674P55769
ENSG00000100138ENST00000648674Q6FHM6
ENSG00000100138ENST00000649479A0A3B3IRU2
ENSG00000100138ENST00000649722A0A3B3ISK4

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
275946832016Structural Features of the Box C/D snoRNP Pre-assembly Process Are Conserved through Species.12
275946832016Structural Features of the Box C/D snoRNP Pre-assembly Process Are Conserved through Species.12
196202832009Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis.47
196202832009Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis.47
180449642007Functional implications for a prototypical K-turn binding protein from structural and dynamical studies of 15.5K.4
180449642007Functional implications for a prototypical K-turn binding protein from structural and dynamical studies of 15.5K.4
120111112002In vivo analysis of NHPX reveals a novel nucleolar localization pathway involving a transient accumulation in splicing speckles.19
122038362002Molecular cloning and sequencing of cDNA encoding for human FA-1 antigen.6
124177352002Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP.109
120111112002In vivo analysis of NHPX reveals a novel nucleolar localization pathway involving a transient accumulation in splicing speckles.19
122038362002Molecular cloning and sequencing of cDNA encoding for human FA-1 antigen.6
124177352002Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP.109

Citation

Dessen P

SNU13 (small nuclear ribonucleoprotein 13)

Atlas Genet Cytogenet Oncol Haematol. 2015-09-01

Online version: http://atlasgeneticsoncology.org/gene/77775/snu13-(small-nuclear-ribonucleoprotein-13)