Gene Symbol | CLN3 |
Entrez ID | 1201 |
Uniprot ID | Q13286 |
Description | ceroid-lipofuscinosis, neuronal 3 |
Chromosomal Location | chr16: 28,474,111-28,495,575 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001508 |
action potential |
A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. |
ISS |
BP |
GO:0001575 |
globoside metabolic process |
The chemical reactions and pathways involving globosides, globotetraosylceramides, ceramides containing a core structure of GalNAc-beta-(1->3)-Gal-alpha-(1->4)-Glc(I). Globosides are the major neutral glycosphingolipid in normal kidneys and erythrocytes. |
IMP |
BP |
GO:0006520 |
cellular amino acid metabolic process |
The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. |
ISS |
BP |
GO:0006672 |
ceramide metabolic process |
The chemical reactions and pathways involving ceramides, any N-acylated sphingoid. |
IDA |
BP |
GO:0006678 |
glucosylceramide metabolic process |
The chemical reactions and pathways involving glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. They are neutral glycolipids containing equimolar amounts of fatty acid, glucose, and sphingosine or a sphingosine derivative. |
IMP |
BP |
GO:0006681 |
galactosylceramide metabolic process |
The chemical reactions and pathways involving galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group. |
IMP |
BP |
GO:0006684 |
sphingomyelin metabolic process |
The chemical reactions and pathways involving sphingomyelin, N-acyl-4-sphingenyl-1-O-phosphorylcholine, any of a class of phospholipids in which the amino group of sphingosine is in amide linkage with one of several fatty acids, while the terminal hydroxyl group of sphingosine is esterified to phosphorylcholine. |
IMP |
BP |
GO:0006898 |
receptor-mediated endocytosis |
An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
IMP |
BP |
GO:0007034 |
vacuolar transport |
The directed movement of substances into, out of or within a vacuole. |
IBA |
BP |
GO:0007040 |
lysosome organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
ISS |
BP |
GO:0007042 |
lysosomal lumen acidification |
Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
IMP |
BP |
GO:0008306 |
associative learning |
Learning by associating a stimulus (the cause) with a particular outcome (the effect). |
ISS |
BP |
GO:0015809 |
arginine transport |
The directed movement of arginine, 2-amino-5-guanidinopentanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IDA |
BP |
GO:0016236 |
macroautophagy |
The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Though once thought to be a purely non-selective process, it appears that some types of macroautophagy, e.g. macropexophagy, macromitophagy, may involve selective targeting of the targets to be degraded. |
NAS |
BP |
GO:0016242 |
negative regulation of macroautophagy |
Any process that stops, prevents, or reduces the frequency, rate or extent of macroautophagy. |
ISS |
BP |
GO:0016485 |
protein processing |
Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
ISS |
BP |
GO:0030163 |
protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
NAS |
BP |
GO:0035235 |
ionotropic glutamate receptor signaling pathway |
A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. |
ISS |
BP |
GO:0035752 |
lysosomal lumen pH elevation |
Any process that increases the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
IDA |
BP |
GO:0042133 |
neurotransmitter metabolic process |
The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. |
ISS |
BP |
GO:0042987 |
amyloid precursor protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of beta-amyloid, a glycoprotein associated with Alzheimer's disease. |
IDA |
BP |
GO:0043066 |
negative regulation of apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
IMP |
BP |
GO:0043086 |
negative regulation of catalytic activity |
Any process that stops or reduces the activity of an enzyme. |
ISS |
BP |
GO:0043524 |
negative regulation of neuron apoptotic process |
Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
ISS |
BP |
GO:0045861 |
negative regulation of proteolysis |
Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. |
ISS |
BP |
GO:0047496 |
vesicle transport along microtubule |
The directed movement of a vesicle along a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. |
IMP |
BP |
GO:0050885 |
neuromuscular process controlling balance |
Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. |
ISS |
BP |
GO:0051480 |
regulation of cytosolic calcium ion concentration |
Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
ISS |
BP |
GO:0061024 |
membrane organization |
A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. |
ISS |
BP |
GO:0097352 |
autophagosome maturation |
The process in which autophagosomes, double-membraned vacuoles containing cytoplasmic material fuse with a vacuole (yeast) or lysosome (e.g. mammals and insects). In the case of yeast, inner membrane-bounded structures (autophagic bodies) appear in the vacuole. Fusion provides an acidic environment and digestive function to the interior of the autophagosome. |
ISS |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
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:0005739 |
mitochondrion |
A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
TAS |
CC |
GO:0005764 |
lysosome |
A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
IDA |
CC |
GO:0005765 |
lysosomal membrane |
The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
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:0005770 |
late endosome |
A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
IDA|ISS |
CC |
GO:0005776 |
autophagosome |
A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the vacuole/lysosome for degradation as part of macroautophagy. |
ISS |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
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. |
IDA |
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: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:0005901 |
caveola |
A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
IDA |
CC |
GO:0008021 |
synaptic vesicle |
A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IDA |
CC |
GO:0030176 |
integral component of endoplasmic reticulum membrane |
The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IDA |
CC |
GO:0043005 |
neuron projection |
A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
IDA |
CC |
GO:0045121 |
membrane raft |
Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
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:0051082 |
unfolded protein binding |
Interacting selectively and non-covalently with an unfolded protein. |
TAS |
Domain ID | Description |
---|---|
IPR003492 |
Batten's disease protein Cln3 |
IPR018460 |
Batten's disease protein Cln3, subgroup |
IPR020846 |
Major facilitator superfamily domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04142 |
Lysosome |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0010346 |
Crohn Disease |
C0027877 |
Neuronal Ceroid-Lipofuscinoses |
C0038356 |
Stomach Neoplasms |
C0242656 |
Disease Progression |
C0751383 |
Juvenile Neuronal Ceroid Lipofuscinosis |
Pubmed ID | Author | Year | Title |
---|---|---|---|
15291743 |
Diao et al. |
2004 |
The molecular characteristics of polycystic ovary syndrome (PCOS) ovary defined by human ovary cDNA microarray |
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 |
---|---|---|---|
SLC25A4 |
291 |
P12235 |
0.63 |
SLC25A5 |
292 |
P05141 |
0.63 |
SLC25A6 |
293 |
P12236 |
0.63 |
ARF3 |
377 |
P61204 |
0.63 |
ARF4 |
378 |
P18085 |
0.63 |
ARF5 |
381 |
P84085 |
0.63 |
ATP1A1 |
476 |
P05023 |
0.63 |
ATP2A2 |
488 |
P16615 |
0.63 |
CALU |
813 |
O43852 |
0.63 |
CLN3 |
1201 |
Q13286 |
0.63 |
CSE1L |
1434 |
P55060 |
0.63 |
DBH |
1621 |
P09172 |
0.63 |
EMD |
2010 |
P50402 |
0.63 |
SLC25A3 |
5250 |
Q00325 |
0.63 |
RCN2 |
5955 |
Q14257 |
0.63 |
RPN1 |
6184 |
P04843 |
0.63 |
SLC25A1 |
6576 |
P53007 |
0.63 |
SSR4 |
6748 |
P51571 |
0.63 |
TFRC |
7037 |
P02786 |
0.63 |
TMPO |
7112 |
P42166 |
0.63 |
UQCRC2 |
7385 |
P22695 |
0.63 |
CDS2 |
8760 |
O95674 |
0.63 |
DPM1 |
8813 |
O60762 |
0.63 |
FADS2 |
9415 |
O95864 |
0.63 |
TECR |
9524 |
Q9NZ01 |
0.63 |
LPGAT1 |
9926 |
Q92604 |
0.63 |
SCAMP3 |
10067 |
O14828 |
0.63 |
SLC25A13 |
10165 |
Q9UJS0 |
0.63 |
ATP5L |
10632 |
O75964 |
0.63 |
CKAP4 |
10970 |
Q07065 |
0.63 |
ILVBL |
10994 |
A1L0T0 |
0.63 |
ERLIN2 |
11160 |
O94905 |
0.63 |
ADGRL2 |
23266 |
O95490 |
0.63 |
FKBP8 |
23770 |
Q14318 |
0.63 |
SAMM50 |
25813 |
Q9Y512 |
0.63 |
PHGDH |
26227 |
O43175 |
0.63 |
SEC61A1 |
29927 |
P61619 |
0.63 |
SBDS |
51119 |
Q9Y3A5 |
0.63 |
HACD3 |
51495 |
Q9P035 |
0.63 |
TMEM33 |
55161 |
P57088 |
0.63 |
CAND1 |
55832 |
Q86VP6 |
0.63 |
XPO5 |
57510 |
Q9HAV4 |
0.63 |
STRA6 |
64220 |
Q9BX79 |
0.63 |
SFXN3 |
81855 |
Q9BWM7 |
0.63 |
FAR1 |
84188 |
Q8WVX9 |
0.63 |
ARMC6 |
93436 |
Q6NXE6 |
0.63 |
SFXN1 |
94081 |
Q9H9B4 |
0.63 |
MIC13 |
125988 |
Q5XKP0 |
0.63 |
SLC35B2 |
347734 |
Q8TB61 |
0.63 |
CYC1 |
1537 |
P08574 |
0.72 |
IRAK1 |
3654 |
P51617 |
0.72 |
PHB |
5245 |
P35232 |
0.72 |
ABCD3 |
5825 |
P28288 |
0.72 |
VDAC2 |
7417 |
P45880 |
0.72 |
TRIP13 |
9319 |
Q15645 |
0.72 |
NPEPPS |
9520 |
P55786 |
0.72 |
NUP93 |
9688 |
Q8N1F7 |
0.72 |
TELO2 |
9894 |
Q9Y4R8 |
0.72 |
SIGMAR1 |
10280 |
Q99720 |
0.72 |
ATG7 |
10533 |
O95352 |
0.72 |
AFG3L2 |
10939 |
Q9Y4W6 |
0.72 |
DDX20 |
11218 |
Q9UHI6 |
0.72 |
XPOT |
11260 |
O43592 |
0.72 |
GANAB |
23193 |
Q14697 |
0.72 |
KCNIP3 |
30818 |
Q9Y2W7 |
0.72 |
GEMIN4 |
50628 |
P57678 |
0.72 |
SEC61A2 |
55176 |
Q9H9S3 |
0.72 |
RIF1 |
55183 |
Q5UIP0 |
0.72 |
FANCI |
55215 |
Q9NVI1 |
0.72 |
UNC45A |
55898 |
Q9H3U1 |
0.72 |
CCDC47 |
57003 |
Q96A33 |
0.72 |
ESYT2 |
57488 |
A0FGR8 |
0.72 |
SFXN4 |
119559 |
Q6P4A7 |
0.72 |
CPT1A |
1374 |
P50416 |
0.73 |
DDOST |
1650 |
P39656 |
0.73 |
AUP1 |
550 |
Q9Y679 |
0.82 |
COX15 |
1355 |
Q7KZN9 |
0.82 |
SLC25A10 |
1468 |
Q9UBX3 |
0.82 |
PRKDC |
5591 |
P78527 |
0.82 |
RPN2 |
6185 |
P04844 |
0.82 |
XPO1 |
7514 |
O14980 |
0.82 |
SLC25A11 |
8402 |
Q02978 |
0.82 |
GCN1 |
10985 |
Q92616 |
0.82 |
IMMT |
10989 |
Q16891 |
0.82 |
NUP205 |
23165 |
Q92621 |
0.82 |
ECM29 |
23392 |
Q5VYK3 |
0.82 |
HSD17B12 |
51144 |
Q53GQ0 |
0.82 |
SLC25A22 |
79751 |
Q9H936 |
0.82 |
ELAVL1 |
1994 |
Q15717 |
0.63 |
PTH1R |
5745 |
Q03431 |
0.63 |
B3GALT2 |
8707 |
O43825 |
0.63 |
RARS2 |
57038 |
Q5T160 |
0.63 |