Protein Description

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

No tissues found.

No databases found.

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