InnateDB Protein
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IDBP-20377.6
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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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COG7
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Protein Name
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component of oligomeric golgi complex 7
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000305442
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InnateDB Gene
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IDBG-20375 (COG7)
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Protein Structure
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Function |
Required for normal Golgi function. {ECO:0000250}.
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Subcellular Localization |
Golgi apparatus membrane {ECO:0000269PubMed:11980916}; Peripheral membrane protein {ECO:0000269PubMed:11980916}.
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Disease Associations |
Congenital disorder of glycosylation 2E (CDG2E) [MIM:608779]: 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:15107842}. 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 23 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
23
[view]
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Protein-Protein |
23
[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 |
IPR019335
Conserved oligomeric Golgi complex subunit 7
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PFAM |
PF10191
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P83436
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PhosphoSite |
PhosphoSite-P83436
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
91949
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UniGene |
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RefSeq |
NP_705831
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HUGO |
HGNC:18622
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OMIM |
606978
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CCDS |
CCDS10610
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HPRD |
07373
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IMGT |
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EMBL |
AY358632
BC000549
BC037563
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GenPept |
AAH00549
AAH37563
AAQ88995
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