Homo sapiens Protein: COG8
Summary
InnateDB Protein IDBP-39043.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COG8
Protein Name component of oligomeric golgi complex 8
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000305459
InnateDB Gene IDBG-242959 (COG8)
Protein Structure
UniProt Annotation
Function Required for normal Golgi function. {ECO:0000250}.
Subcellular Localization Golgi apparatus membrane {ECO:0000269PubMed:11703943}; Peripheral membrane protein {ECO:0000269PubMed:11703943}.
Disease Associations Congenital disorder of glycosylation 2H (CDG2H) [MIM:611182]: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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. {ECO:0000269PubMed:17331980}. 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 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [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:0015031 protein transport
Cellular Component
GO:0000139 Golgi membrane
GO:0016020 membrane
GO:0017119 Golgi transport complex
Protein Structure and Domains
PDB ID
InterPro IPR007255 Conserved oligomeric Golgi complex subunit 8
IPR016159 Cullin repeat-like-containing domain
IPR016632 Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae
PFAM PF04124
PRINTS
PIRSF PIRSF015415
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96MW5
PhosphoSite PhosphoSite-Q96MW5
TrEMBL J3QRV3
UniProt Splice Variant
Entrez Gene 84342
UniGene Hs.732992
RefSeq NP_115758
HUGO HGNC:18623
OMIM 606979
CCDS CCDS10876
HPRD 07374
IMGT
EMBL AC026464 AK025968 AK056344 AK302605 BC017492 BC121022 BC121023 CH471092
GenPept AAH17492 AAI21023 AAI21024 BAB15301 BAB71157 BAG63854 EAW83266 EAW83267