Version 5.4
Homo sapiens Protein: COG1
Summary
InnateDB Protein IDBP-66769.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COG1
Protein Name component of oligomeric golgi complex 1
Synonyms CDG2G; LDLB;
Species Homo sapiens
Ensembl Protein ENSP00000299886
InnateDB Gene IDBG-66767 (COG1)
Protein Structure
UniProt Annotation
Function Required for normal Golgi function. {ECO:0000250}.
Subcellular Localization Golgi apparatus membrane {ECO:0000305PubMed:11980916}; Peripheral membrane protein {ECO:0000305PubMed:11980916}; Cytoplasmic side {ECO:0000305PubMed:11980916}.
Disease Associations Congenital disorder of glycosylation 2G (CDG2G) [MIM:611209]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation. {ECO:0000269PubMed:16537452}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [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
Biological Process
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0007030 Golgi organization
GO:0015031 protein transport
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0017119 Golgi transport complex
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WTW3
PhosphoSite PhosphoSite-Q8WTW3
TrEMBL J3KSY3
UniProt Splice Variant
Entrez Gene 9382
UniGene Hs.103555
RefSeq NP_061184
HUGO HGNC:6545
OMIM 606973
CCDS CCDS11692
HPRD 07371
IMGT
EMBL AB037802 AC097641 AL359611 BC021985
GenPept AAH21985 BAA92619 CAB94881

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca