Gene Symbol | PRPF19 |
Entrez ID | 27339 |
Uniprot ID | Q9UMS4 |
Description | pre-mRNA processing factor 19 |
Chromosomal Location | chr11: 60,890,730-60,906,588 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000209 |
protein polyubiquitination |
Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
IDA |
BP |
GO:0000244 |
spliceosomal tri-snRNP complex assembly |
The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex. |
IDA |
BP |
GO:0000245 |
spliceosomal complex assembly |
The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions. |
IMP |
BP |
GO:0000398 |
mRNA splicing, via spliceosome |
The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
IC|IDA|TAS |
BP |
GO:0001833 |
inner cell mass cell proliferation |
The proliferation of cells in the inner cell mass. |
IEA |
BP |
GO:0006283 |
transcription-coupled nucleotide-excision repair |
The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
TAS |
BP |
GO:0006303 |
double-strand break repair via nonhomologous end joining |
The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear. |
IMP |
BP |
GO:0008610 |
lipid biosynthetic process |
The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
IEA |
BP |
GO:0010498 |
proteasomal protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds that is mediated by the proteasome. |
IMP |
BP |
GO:0034613 |
cellular protein localization |
Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. |
IMP |
BP |
GO:0045665 |
negative regulation of neuron differentiation |
Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
IEA |
BP |
GO:0048026 |
positive regulation of mRNA splicing, via spliceosome |
Any process that activates or increases the rate or extent of mRNA splicing via a spliceosomal mechanism. |
IEA |
BP |
GO:0048711 |
positive regulation of astrocyte differentiation |
Any process that activates or increases the frequency, rate or extent of astrocyte differentiation. |
IEA |
BP |
GO:0070534 |
protein K63-linked ubiquitination |
A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair. |
IMP |
BP |
GO:0072422 |
signal transduction involved in DNA damage checkpoint |
A signal transduction process that contributes to a DNA damage checkpoint. |
IMP |
CC |
GO:0000974 |
Prp19 complex |
A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p. |
IDA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0005662 |
DNA replication factor A complex |
A conserved heterotrimeric complex that binds nonspecifically to single-stranded DNA and is required for multiple processes in eukaryotic DNA metabolism, including DNA replication, DNA repair, and recombination. In all eukaryotic organisms examined the complex is composed of subunits of approximately 70, 30, and 14 kDa. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005811 |
lipid particle |
An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
IEA |
CC |
GO:0005819 |
spindle |
The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
IEA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0016607 |
nuclear speck |
A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
IDA |
CC |
GO:0035861 |
site of double-strand break |
A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
IDA |
CC |
GO:0071013 |
catalytic step 2 spliceosome |
A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0016874 |
ligase activity |
Catalysis of the joining of two substances, or two groups within a single molecule, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. |
IEA |
MF |
GO:0034450 |
ubiquitin-ubiquitin ligase activity |
Isoenergetic transfer of ubiquitin from one protein to an existing ubiquitin chain via the reaction X-ubiquitin + Y-ubiquitin -> Y-ubiquitin-ubiquitin + X, where both the X-ubiquitin and Y-ubiquitin-ubiquitin linkages are thioester bonds between the C-terminal glycine of ubiquitin and a sulfhydryl side group of a cysteine residue. |
IDA |
MF |
GO:0042802 |
identical protein binding |
Interacting selectively and non-covalently with an identical protein or proteins. |
IPI |
MF |
GO:0061630 |
ubiquitin protein ligase activity |
Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S --> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate. Note that this may include the extension of ubiquitin chains. |
IDA|IMP |
Domain ID | Description |
---|---|
IPR000772 |
Ricin B, lectin domain |
IPR001680 |
WD40 repeat |
IPR003613 |
U box domain |
IPR013083 |
Zinc finger, RING/FYVE/PHD-type |
IPR013915 |
Pre-mRNA-splicing factor 19 |
IPR015943 |
WD40/YVTN repeat-like-containing domain |
IPR017986 |
WD40-repeat-containing domain |
IPR019775 |
WD40 repeat, conserved site |
IPR020472 |
G-protein beta WD-40 repeat |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03040 |
Spliceosome |
KEGG |
hsa04120 |
Ubiquitin mediated proteolysis |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0038356 |
Stomach Neoplasms |
C0242656 |
Disease Progression |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
breast |
glandular cells |
bronchus |
respiratory epithelial cells |
caudate |
glial cells |
cerebellum |
cells in molecular layer |
cerebellum |
Purkinje cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
glandular cells |
colon |
peripheral nerve/ganglion |
duodenum |
glandular cells |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
hippocampus |
neuronal cells |
kidney |
cells in glomeruli |
kidney |
cells in tubules |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
pancreas |
exocrine glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
seminal vesicle |
glandular cells |
skeletal muscle |
myocytes |
skin |
keratinocytes |
skin |
epidermal cells |
smooth muscle |
smooth muscle cells |
soft tissue |
fibroblasts |
soft tissue |
peripheral nerve |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
thyroid gland |
glandular cells |
tonsil |
squamous epithelial cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
DHX8 |
1659 |
Q14562 |
0.49 |
RPN1 |
6184 |
P04843 |
0.49 |
RPS10 |
6204 |
P46783 |
0.49 |
RPS24 |
6229 |
P62847 |
0.49 |
SRSF1 |
6426 |
Q07955 |
0.49 |
SRSF5 |
6430 |
Q13243 |
0.49 |
SNRPA |
6626 |
P09012 |
0.49 |
SON |
6651 |
P18583 |
0.49 |
SRP14 |
6727 |
P37108 |
0.49 |
VTN |
7448 |
P04004 |
0.49 |
SRSF11 |
9295 |
Q05519 |
0.49 |
EFTUD2 |
9343 |
Q15029 |
0.49 |
RBM39 |
9584 |
Q14498 |
0.49 |
STUB1 |
10273 |
Q9UNE7 |
0.49 |
RBM14 |
10432 |
Q96PK6 |
0.49 |
USP39 |
10713 |
Q53GS9 |
0.49 |
UTP14A |
10813 |
Q9BVJ6 |
0.49 |
RNPS1 |
10921 |
Q15287 |
0.49 |
SF3B1 |
23451 |
O75533 |
0.49 |
MTCH1 |
23787 |
Q9NZJ7 |
0.49 |
LTN1 |
26046 |
O94822 |
0.49 |
UBXN1 |
51035 |
Q04323 |
0.49 |
RBM25 |
58517 |
P49756 |
0.49 |
TRIM55 |
84675 |
Q9BYV6 |
0.49 |
RNF113B |
140432 |
Q8IZP6 |
0.49 |
UBE2D3 |
7323 |
P61077 |
0.56 |
SNRNP70 |
6625 |
P08621 |
0.59 |
SNRPA1 |
6627 |
P09661 |
0.59 |
SNRPD1 |
6632 |
P62314 |
0.59 |
SNRPD2 |
6633 |
P62316 |
0.59 |
SART1 |
9092 |
O43290 |
0.59 |
PRPF4 |
9128 |
O43172 |
0.59 |
SF3A1 |
10291 |
Q15459 |
0.59 |
SF3A3 |
10946 |
Q12874 |
0.59 |
SNRNP200 |
23020 |
O75643 |
0.59 |
SF3B3 |
23450 |
Q15393 |
0.59 |
PRPF6 |
24148 |
O94906 |
0.59 |
XAB2 |
56949 |
Q9HCS7 |
0.59 |
HSPB1 |
3315 |
P04792 |
0.63 |
KPNA1 |
3836 |
P52294 |
0.63 |
KPNA2 |
3838 |
P52292 |
0.63 |
PRCC |
5546 |
Q92733 |
0.63 |
USP4 |
7375 |
Q13107 |
0.63 |
DDX42 |
11325 |
Q86XP3 |
0.63 |
UCHL5 |
51377 |
Q9Y5K5 |
0.63 |
EXOC3 |
11336 |
O60645 |
0.65 |
KIAA0907 |
22889 |
Q7Z7F0 |
0.72 |
DNTT |
1791 |
P04053 |
0.77 |
PSMB4 |
5692 |
P28070 |
0.83 |
EXOC7 |
23265 |
Q9UPT5 |
0.88 |
PRPF19 |
27339 |
Q9UMS4 |
0.88 |
DDX5 |
1655 |
P17844 |
0.49 |
HSP90AB1 |
3326 |
P08238 |
0.49 |
LAMP2 |
3920 |
P13473 |
0.49 |
MTHFD1 |
4522 |
P11586 |
0.49 |
HNRNPM |
4670 |
P52272 |
0.49 |
UBE2A |
7319 |
P49459 |
0.49 |
BUD31 |
8896 |
P41223 |
0.49 |
NUDC |
10726 |
Q9Y266 |
0.49 |
PDIA5 |
10954 |
Q14554 |
0.49 |
CWC15 |
51503 |
Q9P013 |
0.49 |
SF3B6 |
51639 |
Q9Y3B4 |
0.49 |
C1orf123 |
54987 |
Q9NWV4 |
0.49 |
ISY1 |
57461 |
Q9ULR0 |
0.49 |
AQR |
9716 |
O60306 |
0.55 |
ESR1 |
2099 |
P03372 |
0.56 |
POLR2A |
5430 |
P24928 |
0.56 |
APEX1 |
328 |
P27695 |
0.63 |
CSNK1A1 |
1452 |
P48729 |
0.63 |
ENO1 |
2023 |
P06733 |
0.63 |
HSP90AA1 |
3320 |
P07900 |
0.63 |
JUN |
3725 |
P05412 |
0.63 |
LGALS3 |
3958 |
P17931 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
NEDD8 |
4738 |
Q15843 |
0.63 |
NOTCH1 |
4851 |
P46531 |
0.63 |
YBX1 |
4904 |
P67809 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
PARK2 |
5071 |
O60260 |
0.63 |
PSMA2 |
5683 |
P25787 |
0.63 |
PSMA3 |
5684 |
P25788 |
0.63 |
RNF2 |
6045 |
Q99496 |
0.63 |
SEC13 |
6396 |
P55735 |
0.63 |
SETMAR |
6419 |
Q53H47 |
0.63 |
SUMO2 |
6613 |
P61956 |
0.63 |
TADA2A |
6871 |
O75478 |
0.63 |
VCP |
7415 |
P55072 |
0.63 |
WHSC1 |
7468 |
O96028 |
0.63 |
CUL3 |
8452 |
Q13618 |
0.63 |
CUL1 |
8454 |
Q13616 |
0.63 |
EED |
8726 |
O75530 |
0.63 |
TSC22D1 |
8848 |
Q15714 |
0.63 |
IKBKE |
9641 |
Q14164 |
0.63 |
CEP57 |
9702 |
Q86XR8 |
0.63 |
KIAA0101 |
9768 |
Q15004 |
0.63 |
CUL7 |
9820 |
Q14999 |
0.63 |
PTBP3 |
9991 |
O95758 |
0.63 |
HDAC5 |
10014 |
Q9UQL6 |
0.63 |
HUWE1 |
10075 |
Q7Z6Z7 |
0.63 |
SRRM1 |
10250 |
Q8IYB3 |
0.63 |
TUBGCP3 |
10426 |
Q96CW5 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
AHSA1 |
10598 |
O95433 |
0.63 |
COPS5 |
10987 |
Q92905 |
0.63 |
CEP250 |
11190 |
Q9BV73 |
0.63 |
GABARAP |
11337 |
O95166 |
0.63 |
GABARAPL2 |
11345 |
P60520 |
0.63 |
OBSL1 |
23363 |
O75147 |
0.63 |
TARDBP |
23435 |
Q13148 |
0.63 |
SUZ12 |
23512 |
Q15022 |
0.63 |
SRRM2 |
23524 |
Q9UQ35 |
0.63 |
GABARAPL1 |
23710 |
Q9H0R8 |
0.63 |
DDX41 |
51428 |
Q9UJV9 |
0.63 |
MED29 |
55588 |
Q9NX70 |
0.63 |
LYAR |
55646 |
Q9NX58 |
0.63 |
RIOK2 |
55781 |
Q9BVS4 |
0.63 |
CAND1 |
55832 |
Q86VP6 |
0.63 |
MEPCE |
56257 |
Q7L2J0 |
0.63 |
CTNNBL1 |
56259 |
Q8WYA6 |
0.63 |
SMARCAD1 |
56916 |
Q9H4L7 |
0.63 |
CWC22 |
57703 |
Q9HCG8 |
0.63 |
LIN28A |
79727 |
Q9H9Z2 |
0.63 |
CEP76 |
79959 |
Q8TAP6 |
0.63 |
KNSTRN |
90417 |
Q9Y448 |
0.63 |
EGLN2 |
112398 |
Q96KS0 |
0.63 |
GSTK1 |
373156 |
Q9Y2Q3 |
0.63 |
SCARNA22 |
677770 |
N/A |
0.63 |
EXOC7 |
N/A |
Q96BU6 |
0.63 |
DHX15 |
1665 |
O43143 |
0.65 |
RPA3 |
6119 |
P35244 |
0.68 |
U2AF2 |
11338 |
P26368 |
0.68 |
RPA1 |
6117 |
P27694 |
0.70 |
RPA2 |
6118 |
P15927 |
0.70 |
CSNK2A2 |
1459 |
P19784 |
0.72 |
FN1 |
2335 |
P02751 |
0.72 |
MAGOH |
4116 |
P61326 |
0.72 |
PRPS1 |
5631 |
P60891 |
0.72 |
SNCA |
6622 |
P37840 |
0.72 |
SMC1A |
8243 |
Q14683 |
0.72 |
HNRNPA1 |
3178 |
P09651 |
0.73 |
U2AF1 |
7307 |
Q01081 |
0.73 |
SF3A2 |
8175 |
Q15428 |
0.73 |
SNW1 |
22938 |
Q13573 |
0.73 |
CCDC94 |
55702 |
Q9BW85 |
0.73 |
USB1 |
79650 |
Q9BQ65 |
0.73 |
EGLN3 |
112399 |
Q9H6Z9 |
0.75 |
RBM10 |
8241 |
P98175 |
0.76 |
CDC40 |
51362 |
O60508 |
0.76 |
SUMO1 |
7341 |
P63165 |
0.78 |
PRPF3 |
9129 |
O43395 |
0.81 |
EIF4A3 |
9775 |
P38919 |
0.82 |
YWHAG |
7532 |
P61981 |
0.86 |
PLRG1 |
5356 |
O43660 |
0.87 |
PRPF8 |
10594 |
Q6P2Q9 |
0.87 |
RBM5 |
10181 |
P52756 |
0.88 |
BCAS2 |
10286 |
O75934 |
0.89 |
CDC5L |
988 |
Q99459 |
0.90 |