Version 5.4
Homo sapiens Protein: COG6
Summary
InnateDB Protein IDBP-365831.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COG6
Protein Name component of oligomeric golgi complex 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000403733
InnateDB Gene IDBG-26322 (COG6)
Protein Structure
UniProt Annotation
Function Required for normal Golgi function. {ECO:0000250}.
Subcellular Localization Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
Disease Associations Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576]: 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 CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy. {ECO:0000269PubMed:20605848}. Note=The disease is caused by mutations affecting the gene represented in this entry.Shaheen syndrome (SHNS) [MIM:615328]: An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. {ECO:0000269PubMed:23606727}. 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 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0015031 protein transport
GO:0070085 glycosylation
Cellular Component
GO:0000139 Golgi membrane
GO:0017119 Golgi transport complex
Protein Structure and Domains
PDB ID
InterPro IPR010490 Conserved oligomeric Golgi complex subunit 6
PFAM PF06419
PRINTS
PIRSF
SMART SM01087
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y2V7
PhosphoSite PhosphoSite-Q9Y2V7
TrEMBL
UniProt Splice Variant
Entrez Gene 57511
UniGene Hs.614467
RefSeq NP_001138551
HUGO HGNC:18621
OMIM 606977
CCDS CCDS45042
HPRD 08445
IMGT
EMBL AB032960 AF116827 AL512505 BC051723 CH471075 CR627406
GenPept AAD29633 AAH51723 BAA86448 CAH10495 CAI16937 CAM23735 EAX08619

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