PRPF40A (pre-mRNA processing factor 40 homolog A)

2017-10-01  

Identity

HGNC
PRPF40A
LOCATION
2q23.3
LOCUSID
55660
ALIAS
FBP-11,FBP11,FLAF1,FNBP3,HIP-10,HIP10,HYPA,NY-REN-6,Prp40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55660
MIM: 612941
HGNC: 16463
Ensembl: ENSG00000196504

Variants:

dbSNP: 55660
ClinVar: 55660
TCGA: ENSG00000196504
COSMIC: PRPF40A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196504ENST00000354363H7BXZ7
ENSG00000196504ENST00000410080A0A3F2YNY6
ENSG00000196504ENST00000448428H7C2N3
ENSG00000196504ENST00000493468H0YG38
ENSG00000196504ENST00000545856F5H578

Expression (GTEx)

0
10
20
30
40
50
60
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208294782010A transient and low-populated protein-folding intermediate at atomic resolution.93
154568882004The WW domain-containing proteins interact with the early spliceosome and participate in pre-mRNA splicing in vivo.37
123812972002The structure of an FF domain from human HYPA/FBP11.31
282583422017COL1A1, PRPF40A, and UCP2 correlate with hypoxia markers in non-small cell lung cancer.15
215661412011Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).11
163913872005Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis.5
170651512006Structure of FBP11 WW1-PL ligand complex reveals the mechanism of proline-rich ligand recognition by group II/III WW domains.5
286369102017Prp40 Homolog A Is a Novel Centrin Target.1
224084192012The effect of C-terminal helix on the stability of FF domain studied by molecular dynamics simulation.0

Citation

Dessen P

PRPF40A (pre-mRNA processing factor 40 homolog A)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57084/prpf40a