ceroid-lipofuscinosis, neuronal 3

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Synonym

-

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:59.80 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:36.90 spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:- peripheral blood:- spleen:78 thymus:245.80 bone marrow:- adipose:- bone:- skin:-
GeneChip nodata
CAGE nodata
RNA-seq nodata
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:- placenta:159.30 prostate:151.80 ovary:- testis:411.70 heart:38.80 muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:-        lung:152    bladder:- kidney:- pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:- breast:- salivary:-
GeneChip nodata
CAGE nodata
RNA-seq nodata

Gene Information

IDs

Refseq ID NM_001006971
Gene ID 293485
Unigene ID Rn.102386
Probe set ID -
Ensembl ID ENSRNOG00000019103

Orthologous Gene

Human[4]  NM_000086, NM_001042432
Mouse[2]  NM_001146311, NM_009907

Chromosomal Region

1q36  [185,713,097  -  185,724,375]

Gene Family (Interpro ID)

IPR003492  Batten's disease protein Cln3
IPR018460  Batten's disease protein Cln3, subgroup
IPR016196  Major facilitator superfamily, general substrate transporter

Link to Pubmed  (Pubmed ID)

12477932
14622109
15240864
15598649
23769828

Gene Ontology  (GO ID)

Biological Process

GO:0006865  amino acid transport
GO:0042987  amyloid precursor protein catabolic process
GO:0015809  arginine transport
GO:0008306  associative learning
GO:0000046  autophagic vacuole fusion
GO:0008150  biological_process
GO:0006520  cellular amino acid metabolic process
GO:0006672  ceramide metabolic process
GO:0051480  cytosolic calcium ion homeostasis
GO:0006681  galactosylceramide metabolic process
GO:0001575  globoside metabolic process
GO:0006678  glucosylceramide metabolic process
GO:0035235  ionotropic glutamate receptor signaling pathway
GO:0007042  lysosomal lumen acidification
GO:0007040  lysosome organization
GO:0016236  macroautophagy
GO:0016044  membrane organization
GO:0043066  negative regulation of apoptosis
GO:0043086  negative regulation of catalytic activity
GO:0016242  negative regulation of macroautophagy
GO:0043524  negative regulation of neuron apoptosis
GO:0045861  negative regulation of proteolysis
GO:0050885  neuromuscular process controlling balance
GO:0042133  neurotransmitter metabolic process
GO:0016485  protein processing
GO:0006898  receptor-mediated endocytosis
GO:0001508  regulation of action potential
GO:0006684  sphingomyelin metabolic process
GO:0007034  vacuolar transport
GO:0047496  vesicle transport along microtubule

Cellular Component

GO:0005776  autophagic vacuole
GO:0005901  caveola
GO:0005575  cellular_component
GO:0005737  cytoplasm
GO:0031410  cytoplasmic vesicle
GO:0005769  early endosome
GO:0005783  endoplasmic reticulum
GO:0005794  Golgi apparatus
GO:0000139  Golgi membrane
GO:0005795  Golgi stack
GO:0030176  integral to endoplasmic reticulum membrane
GO:0016021  integral to membrane
GO:0031301  integral to organelle membrane
GO:0005770  late endosome
GO:0005765  lysosomal membrane
GO:0005764  lysosome
GO:0045121  membrane raft
GO:0043005  neuron projection
GO:0005634  nucleus
GO:0005886  plasma membrane
GO:0008021  synaptic vesicle
GO:0005802  trans-Golgi network

Molecular Function

GO:0048306  calcium-dependent protein binding
GO:0003674  molecular_function