| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Required for normal Golgi function (By similarity). SUBUNIT: Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. DISEASE: Defects in COG8 are the cause of congenital disorder of glycosylation type 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. SIMILARITY: Belongs to the COG8 family. SEQUENCE CAUTION: Sequence=AAH17492.1; Type=Erroneous initiation; Sequence=BAB15301.1; Type=Frameshift; Positions=371; GENE SYNONYMS:COG8. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 612 AA; 68424 MW; 2780349A5B037E55 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:18623,
urn:biopax:RelationshipXref:NCBI GENE_84342,
urn:biopax:RelationshipXref:REFSEQ_NP_115758,
urn:biopax:UnificationXref:UNIPROT_Q0VAK2,
urn:biopax:UnificationXref:UNIPROT_Q8WVV6,
urn:biopax:UnificationXref:UNIPROT_Q96MW5,
urn:biopax:UnificationXref:UNIPROT_Q9H6F8
|
| biopax3:displayName |
COG8_HUMAN
|
| biopax3:name |
COG complex subunit 8,
COG8,
Component of oligomeric Golgi complex 8
|
| biopax3:organism | |
| biopax3:sequence |
MATAATIPSVATATAAALGEVEDEGLLASLFRDRFPEAQWRERPDVGRYLRELSGSGLERLRREPERLAEERAQLLQQTRDLAFANYKTFIRGAECTERIHRLFGDVEASLGRLLDRLPSFQQSCRNFVKEAEEISSNRRMNSLTLNRHTEILEILEIPQLMDTCVRNSYYEEALELAAYVRRLERKYSSIPVIQGIVNEVRQSMQLMLSQLIQQLRTNIQLPACLRVIGYLRRMDVFTEAELRVKFLQARDAWLRSILTAIPNDDPYFHITKTIEASRVHLFDIITQYRAIFSDEDPLLPPAMGEHTVNESAIFHGWVLQKVSQFLQVLETDLYRGIGGHLDSLLGQCMYFGLSFSRVGADFRGQLAPVFQRVAISTFQKAIQETVEKFQEEMNSYMLISAPAILGTSNMPAAVPATQPGTLQPPMVLLDFPPLACFLNNILVAFNDLRLCCPVALAQDVTGALEDALAKVTKIILAFHRAEEAAFSSGEQELFVQFCTVFLEDLVPYLNRCLQVLFPPAQIAQTLGIPPTQLSKYGNLGHVNIGAIQEPLAFILPKRETLFTLDDQALGPELTAPAPEPPAEEPRLEPAGPACPEGGRAETQAEPPSVGP
|
| biopax3:standardName |
Conserved oligomeric Golgi complex subunit 8
|