InnateDB Protein
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IDBP-601942.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COG4
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Protein Name
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component of oligomeric golgi complex 4
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Synonyms
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CDG2J; COD1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432802
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InnateDB Gene
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IDBG-40123 (COG4)
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Protein Structure
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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}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000305PubMed:11703943}; Peripheral membrane protein {ECO:0000305PubMed:11703943}; Cytoplasmic side {ECO:0000305PubMed:11703943}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
24
[view]
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Protein-Protein |
24
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR013167
Conserved oligomeric Golgi complex, subunit 4
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PFAM |
PF08318
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PRINTS |
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PIRSF |
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SMART |
SM00762
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H9E3
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PhosphoSite |
PhosphoSite-Q9H9E3
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TrEMBL |
J3KRB5
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UniProt Splice Variant |
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Entrez Gene |
25839
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UniGene |
Hs.615139
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RefSeq |
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HUGO |
HGNC:18620
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OMIM |
606976
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CCDS |
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HPRD |
08444
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IMGT |
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EMBL |
AB088369
AC106804
AK022874
AK026435
AK297557
AL050101
BC000796
BC006306
BC013347
BC072438
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GenPept |
AAH00796
AAH06306
AAH13347
AAH72438
BAB14286
BAB15483
BAC05682
BAG59950
CAB43272
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