Gene: ENSG00000278220 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000278220
Transcript Identifier
ENST00000619400
Gene Type
Coding gene
Location
CHR_HSCHR8_7_CTG1 : 183713-193225 : positive

Family Information

Homologous gene family
HOM03P030056
(3 genes in 2 species)
specific family

Descriptions

gene_descr
ceroid-lipofuscinosis, neuronal 8

Identifiers

Type Value
pidENSP00000482713
HGNC2079
UniprotQ9UBY8
UniprotA0A024QZ57

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001306
IEA
Genome Projectage-dependent response to oxidative stress
GO:0007006
IEA
Genome Projectmitochondrial membrane organization
GO:0007040
IEA
Genome Projectlysosome organization
GO:0007601
IEA
Genome Projectvisual perception
GO:0007628
IEA
Genome Projectadult walking behavior
GO:0008306
IEA
Genome Projectassociative learning
GO:0008344
IEA
Genome Projectadult locomotory behavior
GO:0008361
IEA
Genome Projectregulation of cell size
GO:0021522
IEA
Genome Projectspinal cord motor neuron differentiation
GO:0021523
IEA
Genome Projectsomatic motor neuron differentiation
GO:0035176
IEA
Genome Projectsocial behavior
GO:0043066
IEA
Genome Projectnegative regulation of apoptotic process
GO:0044257
IEA
Genome Projectcellular protein catabolic process
GO:0044265
IEA
Genome Projectcellular macromolecule catabolic process
GO:0044267
IEA
Genome Projectcellular protein metabolic process
GO:0045494
IEA
Genome Projectphotoreceptor cell maintenance
GO:0050881
IEA
Genome Projectmusculoskeletal movement
GO:0050884
IEA
Genome Projectneuromuscular process controlling posture
GO:0050885
IEA
Genome Projectneuromuscular process controlling balance
GO:0051348
IEA
Genome Projectnegative regulation of transferase activity
GO:0051935
IEA
Genome Projectglutamate reuptake
GO:0060041
IEA
Genome Projectretina development in camera-type eye
GO:0060052
IEA
Genome Projectneurofilament cytoskeleton organization
GO:0006644
IMP
Genome Projectphospholipid metabolic process
GO:0006672
IMP
Genome Projectceramide metabolic process
GO:0006869
NAS
Genome Projectlipid transport
GO:0007399
IMP
Genome Projectnervous system development
GO:0008203
IMP
Genome Projectcholesterol metabolic process
GO:0008610
NAS
Genome Projectlipid biosynthetic process
GO:0030163
NAS
Genome Projectprotein catabolic process
GO:0045861
NAS
Genome Projectnegative regulation of proteolysis
GO:0046513
NAS
Genome Projectceramide biosynthetic process

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005739
IEA
Genome Projectmitochondrion
GO:0016020
IEA
Genome Projectmembrane
GO:0016021
NAS, IEA
Genome Projectintegral component of membrane
GO:0005783
IDA
IEA
Genome Projectendoplasmic reticulum
GO:0005789
IEA
Genome Projectendoplasmic reticulum membrane
GO:0005793
IDA
Genome Projectendoplasmic reticulum-Golgi intermediate compartment
GO:0033116
IEA
Genome Projectendoplasmic reticulum-Golgi intermediate compartment membrane

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR006634TRAM/LAG1/CLN8 homology domain

No MapMan annotations defined for this gene.