Entity Details

Primary name COG7_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP83436
EntryNameCOG7_HUMAN
FullNameConserved oligomeric Golgi complex subunit 7
TaxID9606
Evidenceevidence at protein level
Length770
SequenceStatuscomplete
DateCreated2002-08-30
DateModified2021-06-02

Ontological Relatives

GenesCOG7

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0005730 nucleolus
GO:0005794 Golgi apparatus
GO:0006486 protein glycosylation
GO:0006886 intracellular protein transport
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
GO:0007030 Golgi organization
GO:0017119 Golgi transport complex
GO:0032588 trans-Golgi network membrane
GO:0033365 protein localization to organelle
GO:0034067 protein localization to Golgi apparatus
GO:0043231 intracellular membrane-bounded organelle
GO:0050821 protein stabilization

Subcellular Location

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Subcellular Location
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR019335 Conserved oligomeric Golgi complex subunit 7FamilyFamily

Diseases

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Disease IDSourceNameDescription
608779 OMIMCongenital disorder of glycosylation 2E (CDG2E)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. The disease is caused by variants affecting the gene represented in this entry.