Gene Symbol | OCRL |
Entrez ID | 4952 |
Uniprot ID | Q01968 |
Description | oculocerebrorenal syndrome of Lowe |
Chromosomal Location | chrX: 129,539,849-129,592,561 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001701 |
in utero embryonic development |
The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
IEA |
BP |
GO:0006629 |
lipid metabolic process |
The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
NAS |
BP |
GO:0006661 |
phosphatidylinositol biosynthetic process |
The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
TAS |
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
IEA |
BP |
GO:0042384 |
cilium assembly |
The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
IMP |
BP |
GO:0043087 |
regulation of GTPase activity |
Any process that modulates the rate of GTP hydrolysis by a GTPase. |
IDA |
BP |
GO:0043547 |
positive regulation of GTPase activity |
Any process that activates or increases the activity of a GTPase. |
IEA |
BP |
GO:0043647 |
inositol phosphate metabolic process |
The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. |
TAS |
BP |
GO:0046856 |
phosphatidylinositol dephosphorylation |
The process of removing one or more phosphate groups from a phosphatidylinositol. |
IEA |
BP |
GO:0051056 |
regulation of small GTPase mediated signal transduction |
Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
TAS |
CC |
GO:0001750 |
photoreceptor outer segment |
The outer segment of a vertebrate photoreceptor that contains discs of photoreceptive membranes. |
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:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005769 |
early endosome |
A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
IDA |
CC |
GO:0005795 |
Golgi stack |
The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack. |
TAS |
CC |
GO:0005798 |
Golgi-associated vesicle |
Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. |
TAS |
CC |
GO:0005802 |
trans-Golgi network |
The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
IDA |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
TAS |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA |
CC |
GO:0005905 |
clathrin-coated pit |
A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes. |
IEA |
CC |
GO:0030136 |
clathrin-coated vesicle |
A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes. |
IDA |
CC |
GO:0030670 |
phagocytic vesicle membrane |
The lipid bilayer surrounding a phagocytic vesicle. |
IEA |
CC |
GO:0031901 |
early endosome membrane |
The lipid bilayer surrounding an early endosome. |
IEA |
CC |
GO:0070062 |
extracellular exosome |
A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
IDA |
MF |
GO:0004439 |
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
TAS |
MF |
GO:0005096 |
GTPase activator activity |
Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
IDA|TAS |
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:0048365 |
Rac GTPase binding |
Interacting selectively and non-covalently with Rac protein, any member of the Rac subfamily of the Ras superfamily of monomeric GTPases. |
IPI |
MF |
GO:0052658 |
inositol-1,4,5-trisphosphate 5-phosphatase activity |
Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate. |
TAS |
MF |
GO:0052659 |
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity |
Catalysis of the reaction: 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate. |
TAS |
MF |
GO:0052745 |
inositol phosphate phosphatase activity |
Catalysis of the reaction: inositol phosphate(n) + H2O = inositol phosphate(n-1) + phosphate. This reaction is the removal of a phosphate group from an inositol phosphate. |
IDA|NAS |
Domain ID | Description |
---|---|
IPR000198 |
Rho GTPase-activating protein domain |
IPR000300 |
Inositol polyphosphate-related phosphatase |
IPR005135 |
Endonuclease/exonuclease/phosphatase |
IPR008936 |
Rho GTPase activation protein |
IPR013783 |
Immunoglobulin-like fold |
IPR031995 |
Inositol polyphosphate 5-phosphatase, clathrin binding domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00562 |
Inositol phosphate metabolism |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
hsa04070 |
Phosphatidylinositol signaling system |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0028860 |
Oculocerebrorenal Syndrome |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
bone marrow |
hematopoietic cells |
breast |
glandular cells |
bronchus |
respiratory epithelial cells |
caudate |
neuronal cells |
cerebellum |
cells in granular layer |
cerebellum |
cells in molecular layer |
cerebellum |
Purkinje cells |
cerebral cortex |
neuronal cells |
cerebral cortex |
neuropil |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
endothelial 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 |
lung |
macrophages |
lymph node |
germinal center cells |
lymph node |
non-germinal center cells |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
ovary |
follicle cells |
ovary |
ovarian stroma cells |
pancreas |
exocrine glandular cells |
pancreas |
islets of Langerhans |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
seminal vesicle |
glandular cells |
skeletal muscle |
myocytes |
skin |
fibroblasts |
skin |
keratinocytes |
skin |
epidermal cells |
soft tissue |
fibroblasts |
spleen |
cells in red pulp |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
thyroid gland |
glandular cells |
tonsil |
germinal center cells |
tonsil |
non-germinal center 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 |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
PIK3C2A |
5286 |
O00443 |
0.00 |
PIK3C2G |
5288 |
O75747 |
0.00 |
PIK3CA |
5290 |
P42336 |
0.00 |
PIK3CD |
5293 |
O00329 |
0.00 |
PIK3CG |
5294 |
P48736 |
0.00 |
PIK3R1 |
5295 |
P27986 |
0.00 |
PIK3R2 |
5296 |
O00459 |
0.00 |
PI4KA |
5297 |
P42356 |
0.00 |
PI4KB |
5298 |
Q9UBF8 |
0.00 |
PIP4K2A |
5305 |
P48426 |
0.00 |
PLCB2 |
5330 |
Q00722 |
0.00 |
PLCB3 |
5331 |
Q01970 |
0.00 |
PLCB4 |
5332 |
Q15147 |
0.00 |
PLCD1 |
5333 |
P51178 |
0.00 |
PLCG1 |
5335 |
P19174 |
0.00 |
PLCG2 |
5336 |
P16885 |
0.00 |
PIP4K2B |
8396 |
P78356 |
0.00 |
PIK3R3 |
8503 |
Q92569 |
0.00 |
PLCB1 |
23236 |
Q9NQ66 |
0.00 |
PIP5K1C |
23396 |
O60331 |
0.00 |
PI4K2B |
55300 |
Q8TCG2 |
0.00 |
PLCD4 |
84812 |
Q9BRC7 |
0.00 |
PLCD3 |
113026 |
Q8N3E9 |
0.00 |
LRP2 |
4036 |
P98164 |
0.03 |
APPL1 |
26060 |
Q9UKG1 |
0.07 |
CDC42 |
998 |
P60953 |
0.52 |
GRB2 |
2885 |
P62993 |
0.75 |
RAC1 |
5879 |
P63000 |
0.76 |
RAB1A |
5861 |
P62820 |
0.78 |
RAB14 |
51552 |
P61106 |
0.78 |
RAB8A |
4218 |
P61006 |
0.79 |
RAB5A |
5868 |
P20339 |
0.79 |
RAB6A |
5870 |
P20340 |
0.79 |
CLTC |
1213 |
Q00610 |
0.90 |
GOLGA1 |
2800 |
Q92805 |
0.03 |
RAB3A |
5864 |
P20336 |
0.23 |
RAB13 |
5872 |
P51153 |
0.23 |
RAB31 |
11031 |
Q13636 |
0.23 |
RAB1B |
81876 |
Q9H0U4 |
0.25 |
CEP170 |
9859 |
Q5SW79 |
0.49 |
SSX2IP |
117178 |
Q9Y2D8 |
0.49 |
SCLT1 |
132320 |
Q96NL6 |
0.49 |
CEP128 |
145508 |
Q6ZU80 |
0.49 |
TMEM17 |
200728 |
Q86X19 |
0.49 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
ESR2 |
2100 |
Q92731 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
SCN2B |
6327 |
O60939 |
0.63 |
SUMO2 |
6613 |
P61956 |
0.63 |
XPO1 |
7514 |
O14980 |
0.63 |
HERC2 |
8924 |
O95714 |
0.63 |
GOLGA5 |
9950 |
Q8TBA6 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
SPINT2 |
10653 |
O43291 |
0.63 |
BTN2A1 |
11120 |
Q7KYR7 |
0.63 |
VSIG4 |
11326 |
Q9Y279 |
0.63 |
CACNG4 |
27092 |
Q9UBN1 |
0.63 |
C9orf78 |
51759 |
Q9NZ63 |
0.63 |
C16orf70 |
80262 |
Q9BSU1 |
0.63 |
ENPP6 |
133121 |
Q6UWR7 |
0.63 |
FAM109A |
144717 |
Q8N4B1 |
0.65 |
FAM109B |
150368 |
Q6ICB4 |
0.65 |
GTSE1 |
51512 |
Q9NYZ3 |
0.72 |