PRPF38A (pre-mRNA processing factor 38A)

2014-11-01  

Identity

HGNC
PRPF38A
LOCATION
1p32.3
LOCUSID
84950
ALIAS
PRP38A,Prp38
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84950
MIM: 617031
HGNC: 25930
Ensembl: ENSG00000134748

Variants:

dbSNP: 84950
ClinVar: 84950
TCGA: ENSG00000134748
COSMIC: PRPF38A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134748ENST00000257181Q8NAV1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
332438512020Mechanism of protein-guided folding of the active site U2/U6 RNA during spliceosome activation.33
332438512020Mechanism of protein-guided folding of the active site U2/U6 RNA during spliceosome activation.33
266731052016Multiple protein-protein interactions converging on the Prp38 protein during activation of the human spliceosome.12
266731052016Multiple protein-protein interactions converging on the Prp38 protein during activation of the human spliceosome.12

Citation

Dessen P

PRPF38A (pre-mRNA processing factor 38A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72251