InnateDB Protein
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IDBP-39043.6
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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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COG8
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Protein Name
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component of oligomeric golgi complex 8
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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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ENSP00000305459
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InnateDB Gene
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IDBG-242959 (COG8)
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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:11703943}; Peripheral membrane protein {ECO:0000269PubMed:11703943}.
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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.
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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 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[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 |
IPR007255
Conserved oligomeric Golgi complex subunit 8
IPR016159
Cullin repeat-like-containing domain
IPR016632
Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae
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PFAM |
PF04124
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PRINTS |
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PIRSF |
PIRSF015415
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96MW5
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PhosphoSite |
PhosphoSite-Q96MW5
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TrEMBL |
J3QRV3
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UniProt Splice Variant |
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Entrez Gene |
84342
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UniGene |
Hs.732992
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RefSeq |
NP_115758
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HUGO |
HGNC:18623
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OMIM |
606979
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CCDS |
CCDS10876
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HPRD |
07374
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IMGT |
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EMBL |
AC026464
AK025968
AK056344
AK302605
BC017492
BC121022
BC121023
CH471092
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GenPept |
AAH17492
AAI21023
AAI21024
BAB15301
BAB71157
BAG63854
EAW83266
EAW83267
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