InnateDB Protein
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IDBP-35470.6
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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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COG5
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Protein Name
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component of oligomeric golgi complex 5
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Synonyms
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CDG2I; GOLTC1; GTC90;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000334703
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InnateDB Gene
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IDBG-35466 (COG5)
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Protein Structure
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Function |
Required for normal Golgi function. {ECO:0000250}.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000269PubMed:9792665}. Golgi apparatus membrane {ECO:0000269PubMed:9792665}; Peripheral membrane protein {ECO:0000269PubMed:9792665}.
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Disease Associations |
Congenital disorder of glycosylation 2I (CDG2I) [MIM:613612]: 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. {ECO:0000269PubMed:19690088}. 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 |
21
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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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 |
IPR019465
Conserved oligomeric Golgi complex subunit 5
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PFAM |
PF10392
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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 |
Q9UP83
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PhosphoSite |
PhosphoSite-Q9UP83
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TrEMBL |
U3KQU7
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UniProt Splice Variant |
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Entrez Gene |
10466
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UniGene |
Hs.239631
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RefSeq |
NP_859422
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HUGO |
HGNC:14857
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OMIM |
606821
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CCDS |
CCDS5743
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HPRD |
08436
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IMGT |
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EMBL |
AC002381
AC004492
AC004855
AF058718
BC068540
CH236947
CH471070
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GenPept |
AAB63816
AAC69276
AAC83406
AAH68540
EAL24392
EAL24393
EAW83395
EAW83396
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