SNRPE (small nuclear ribonucleoprotein polypeptide E)

2008-12-01  

Identity

HGNC
SNRPE
LOCATION
1q32.1
LOCUSID
6635
ALIAS
HYPT11,SME,Sm-E,snRNP-E
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6635
MIM: 128260
HGNC: 11161
Ensembl: ENSG00000182004

Variants:

dbSNP: 6635
ClinVar: 6635
TCGA: ENSG00000182004
COSMIC: SNRPE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182004ENST00000367208A6NHK2
ENSG00000182004ENST00000414487P62304

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U1-snRNPKEGGhsa_M00351
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Sm core complexKEGGhsa_M00398
Spliceosome, U1-snRNPKEGGM00351
Spliceosome, U2-snRNPKEGGM00352
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Sm core complexKEGGM00398
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
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
Processing of Capped Intronless Pre-mRNAREACTOMER-HSA-75067
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAsREACTOMER-HSA-77588
SLBP independent Processing of Histone Pre-mRNAsREACTOMER-HSA-111367
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

References

Pubmed IDYearTitleCitations
316710932019A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.12
316710932019A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.12
232462902013Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.15
233586852013Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy.51
232462902013Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.15
233586852013Targeting the deregulated spliceosome core machinery in cancer cells triggers mTOR blockade and autophagy.51
182085612008Spliceosomal protein E regulates neoplastic cell growth by modulating expression of cyclin E/CDK2 and G2/M checkpoint proteins.13
182085612008Spliceosomal protein E regulates neoplastic cell growth by modulating expression of cyclin E/CDK2 and G2/M checkpoint proteins.13
120222252002Branchpoint selection in the splicing of U12-dependent introns in vitro.7
120222252002Branchpoint selection in the splicing of U12-dependent introns in vitro.7

Citation

Dessen P

SNRPE (small nuclear ribonucleoprotein polypeptide E)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50574