Protein Description

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

No databases found.

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