Homo sapiens Protein: COG4
Summary
InnateDB Protein IDBP-243257.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COG4
Protein Name component of oligomeric golgi complex 4
Synonyms CDG2J; COD1;
Species Homo sapiens
Ensembl Protein ENSP00000377236
InnateDB Gene IDBG-40123 (COG4)
Protein Structure
UniProt Annotation
Function Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1. {ECO:0000269PubMed:19536132}.
Subcellular Localization Golgi apparatus membrane {ECO:0000305PubMed:11703943}; Peripheral membrane protein {ECO:0000305PubMed:11703943}; Cytoplasmic side {ECO:0000305PubMed:11703943}.
Disease Associations Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489]: 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. {ECO:0000269PubMed:19494034}. 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 24 [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:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0007030 Golgi organization
GO:0015031 protein transport
GO:0048213 Golgi vesicle prefusion complex stabilization
Cellular Component
GO:0000139 Golgi membrane
GO:0017119 Golgi transport complex
Protein Structure and Domains
PDB ID
InterPro IPR013167 Conserved oligomeric Golgi complex, subunit 4
PFAM PF08318
PRINTS
PIRSF
SMART SM00762
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H9E3
PhosphoSite PhosphoSite-Q9H9E3
TrEMBL J3KRB5
UniProt Splice Variant
Entrez Gene 25839
UniGene Hs.615139
RefSeq NP_001182068
HUGO HGNC:18620
OMIM 606976
CCDS CCDS73909
HPRD 08444
IMGT
EMBL AB088369 AC106804 AK022874 AK026435 AK297557 AL050101 BC000796 BC006306 BC013347 BC072438
GenPept AAH00796 AAH06306 AAH13347 AAH72438 BAB14286 BAB15483 BAC05682 BAG59950 CAB43272