InnateDB: Systems Biology of the Innate Immune Response

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:28477279-28495575

Strand

Reverse strand

Band

p12.1

Transcripts

ENST00000360019	ENSP00000353116
ENST00000357857	ENSP00000350523
ENST00000355477	ENSP00000347660
ENST00000357806	ENSP00000350457
ENST00000333496	ENSP00000329171
ENST00000359984	ENSP00000353073
ENST00000395653	ENSP00000379014
ENST00000564574
ENST00000566472
ENST00000568558	ENSP00000455603
ENST00000566824
ENST00000564091	ENSP00000454466
ENST00000567160
ENST00000566816
ENST00000565140	ENSP00000455342
ENST00000566057	ENSP00000456693
ENST00000568472
ENST00000565236
ENST00000561505	ENSP00000457615
ENST00000568452
ENST00000567804	ENSP00000455365
ENST00000565316	ENSP00000456117
ENST00000565778	ENSP00000458015
ENST00000567963	ENSP00000455387
ENST00000565047
ENST00000561689
ENST00000565688	ENSP00000456122
ENST00000566083
ENST00000568076
ENST00000569430	ENSP00000454229
ENST00000566040
ENST00000565354
ENST00000568422	ENSP00000455549
ENST00000568497	ENSP00000456414
ENST00000569030	ENSP00000454680
ENST00000568443	ENSP00000454899
ENST00000563874
ENST00000567495	ENSP00000456013

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.

Experimentally validated
Total	89 [view]
Protein-Protein	89 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0051082	unfolded protein binding

Biological Process

GO:0000046	autophagic vacuole fusion
GO:0001508	action potential
GO:0001575	globoside metabolic process
GO:0006520	cellular amino acid metabolic process
GO:0006672	ceramide metabolic process
GO:0006678	glucosylceramide metabolic process
GO:0006681	galactosylceramide metabolic process
GO:0006684	sphingomyelin metabolic process
GO:0006898	receptor-mediated endocytosis
GO:0007034	vacuolar transport
GO:0007040	lysosome organization
GO:0007042	lysosomal lumen acidification
GO:0008219	cell death
GO:0008306	associative learning
GO:0015809	arginine transport
GO:0016236	macroautophagy
GO:0016242	negative regulation of macroautophagy
GO:0016485	protein processing
GO:0030163	protein catabolic process
GO:0035235	ionotropic glutamate receptor signaling pathway
GO:0035752	lysosomal lumen pH elevation
GO:0042133	neurotransmitter metabolic process
GO:0042987	amyloid precursor protein catabolic process
GO:0043066	negative regulation of apoptotic process
GO:0043086	negative regulation of catalytic activity
GO:0043524	negative regulation of neuron apoptotic process
GO:0045861	negative regulation of proteolysis
GO:0047496	vesicle transport along microtubule
GO:0050885	neuromuscular process controlling balance
GO:0051480	cytosolic calcium ion homeostasis
GO:0061024	membrane organization

Cellular Component

GO:0000139	Golgi membrane
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005769	early endosome
GO:0005770	late endosome
GO:0005776	autophagic vacuole
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005795	Golgi stack
GO:0005802	trans-Golgi network
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0008021	synaptic vesicle
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0043005	neuron projection
GO:0045121	membrane raft

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030720

View Gene Order

ENSBTAG00000018000

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04142

Lysosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

H3BQ48

UniProt Splice Variant

Entrez Gene

1201

UniGene

Hs.534667 Hs.739118

RefSeq

NM_000086 NM_001042432 NM_001286104 NM_001286105 NM_001286110

HUGO

HGNC:2074

OMIM

607042

CCDS

CCDS10632 CCDS73852 CCDS73854 CCDS73855

HPRD

08450

IMGT

EMBL

AC138894

GenPept

RNA Seq Atlas

1201