ID:COG6_HUMAN DESCRIPTION: RecName: Full=Conserved oligomeric Golgi complex subunit 6; Short=COG complex subunit 6; AltName: Full=Component of oligomeric Golgi complex 6; 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 (By similarity). SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein (By similarity). DISEASE: Defects in COG6 are the cause of congenital disorder of glycosylation type 2L (CDG2L) [MIM:614576]. CDG2L is 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. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy. SIMILARITY: Belongs to the COG6 family. SEQUENCE CAUTION: Sequence=AAD29633.1; Type=Erroneous translation; Note=Wrong choice of CDS;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y2V7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006888 ER to Golgi vesicle-mediated transport GO:0006891 intra-Golgi vesicle-mediated transport GO:0015031 protein transport GO:0070085 glycosylation
KJ899345 - Synthetic construct Homo sapiens clone ccsbBroadEn_08739 COG6 gene, encodes complete protein. AK294443 - Homo sapiens cDNA FLJ56431 complete cds, highly similar to Conserved oligomeric Golgi complex component 6. BC051723 - Homo sapiens component of oligomeric golgi complex 6, mRNA (cDNA clone MGC:48438 IMAGE:5263056), complete cds. CR627406 - Homo sapiens mRNA; cDNA DKFZp313D191 (from clone DKFZp313D191). HM005354 - Homo sapiens clone HTL-T-41 testicular tissue protein Li 41 mRNA, complete cds. AB032960 - Homo sapiens mRNA for KIAA1134 protein, partial cds. AF116827 - Homo sapiens clone HAW1052 unknown mRNA. AK026638 - Homo sapiens cDNA: FLJ22985 fis, clone KAT11645, highly similar to AF116827 Homo sapiens clone HAW1052 unknown mRNA. JD200419 - Sequence 181443 from Patent EP1572962. JD545882 - Sequence 526906 from Patent EP1572962. JD336624 - Sequence 317648 from Patent EP1572962. JD041661 - Sequence 22685 from Patent EP1572962. AK310953 - Homo sapiens cDNA, FLJ17995. BC027469 - Homo sapiens component of oligomeric golgi complex 6, mRNA (cDNA clone IMAGE:4480105), with apparent retained intron. JD350088 - Sequence 331112 from Patent EP1572962. JD566420 - Sequence 547444 from Patent EP1572962. JD508256 - Sequence 489280 from Patent EP1572962. JD357650 - Sequence 338674 from Patent EP1572962. JD549504 - Sequence 530528 from Patent EP1572962. JD103692 - Sequence 84716 from Patent EP1572962. JD304337 - Sequence 285361 from Patent EP1572962. JD355481 - Sequence 336505 from Patent EP1572962. JD544829 - Sequence 525853 from Patent EP1572962. JD126299 - Sequence 107323 from Patent EP1572962. JD552396 - Sequence 533420 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9Y2V7 (Reactome details) participates in the following event(s):
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering R-HSA-8849748 The COG complex binds RABs at the Golgi membrane R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle R-HSA-6807878 COPI-mediated anterograde transport R-HSA-6811438 Intra-Golgi traffic R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
