Version 5.4
Homo sapiens Protein: COG5
Summary
InnateDB Protein IDBP-35468.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COG5
Protein Name component of oligomeric golgi complex 5
Synonyms CDG2I; GOLTC1; GTC90;
Species Homo sapiens
Ensembl Protein ENSP00000297135
InnateDB Gene IDBG-35466 (COG5)
Protein Structure
UniProt Annotation
Function Required for normal Golgi function. {ECO:0000250}.
Subcellular Localization Cytoplasm, cytosol {ECO:0000269PubMed:9792665}. Golgi apparatus membrane {ECO:0000269PubMed:9792665}; Peripheral membrane protein {ECO:0000269PubMed:9792665}.
Disease Associations Congenital disorder of glycosylation 2I (CDG2I) [MIM:613612]: 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. {ECO:0000269PubMed:19690088}. 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 24 experimentally validated interaction(s) in this database.
Experimentally validated
Total 24 [view]
Protein-Protein 21 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0015031 protein transport
Cellular Component
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0017119 Golgi transport complex
Protein Structure and Domains
PDB ID
InterPro IPR019465 Conserved oligomeric Golgi complex subunit 5
PFAM PF10392
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UP83
PhosphoSite PhosphoSite-Q9UP83
TrEMBL U3KQU7
UniProt Splice Variant
Entrez Gene 10466
UniGene Hs.239631
RefSeq NP_006339
HUGO HGNC:14857
OMIM 606821
CCDS CCDS5742
HPRD 08436
IMGT
EMBL AC002381 AC004492 AC004855 AF058718 AK022835 BC068540 CH236947 CH471070
GenPept AAB63816 AAC69276 AAC83406 AAH68540 BAG51122 EAL24392 EAL24393 EAW83395 EAW83396

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