Entity Details

Primary name COG6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y2V7
EntryNameCOG6_HUMAN
FullNameConserved oligomeric Golgi complex subunit 6
TaxID9606
Evidenceevidence at protein level
Length657
SequenceStatuscomplete
DateCreated2002-08-30
DateModified2021-06-02

Ontological Relatives

GenesCOG6

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0015031 protein transport
GO:0017119 Golgi transport complex
GO:0032588 trans-Golgi network membrane
GO:0070085 glycosylation

Subcellular Location

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Subcellular Location
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR010490 Conserved oligomeric Golgi complex subunit 6FamilyFamily

Diseases

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Disease IDSourceNameDescription
615328 OMIMShaheen syndrome (SHNS)An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly. The disease is caused by variants affecting the gene represented in this entry.
614576 OMIMCongenital disorder of glycosylation 2L (CDG2L)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

72 interactions

InteractorPartnerSourcesPublicationsLink
COG6_HUMANATX7_HUMANBioGRID, IntAct21078624 details
COG6_HUMANFANCG_HUMANBioGRID, IntAct27107012 details
COG6_HUMANPPL13_HUMANBioGRID, IntAct27107012 details
COG6_HUMANBCL10_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANF90A1_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANMCM7_HUMANBioGRID, IntAct27107012 details
COG6_HUMANSCNM1_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANCCHCR_HUMANBioGRID, IntAct27107012 28514442 32296183 details
COG6_HUMANZBT16_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANCCD92_HUMANBioGRID, IntAct27107012 details
COG6_HUMANGRAP2_HUMANBioGRID, IntAct27107012 details
COG6_HUMANNDUA5_HUMANBioGRID, IntAct27107012 details
COG6_HUMANRAB6B_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANARHG5_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANNTAQ1_HUMANBioGRID, IntAct27107012 32296183 details
COG6_HUMANCNN1_HUMANBioGRID, IntAct27107012 details
COG6_HUMANGOGA2_HUMANBioGRID, IntAct27107012 details
COG6_HUMANRTP5_HUMANBioGRID, IntAct32296183 details
COG6_HUMANDOCK8_HUMANBioGRID, IntAct32296183 details
COG6_HUMANPSA1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANGEM_HUMANBioGRID, IntAct32296183 details
COG6_HUMANCC116_HUMANBioGRID, IntAct32296183 details
COG6_HUMANPSB1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANSYT17_HUMANBioGRID, IntAct32296183 details
COG6_HUMANPPR32_HUMANBioGRID, IntAct32296183 details
COG6_HUMANTSH3_HUMANBioGRID, IntAct32296183 details
COG6_HUMANMTG8_HUMANBioGRID, IntAct32296183 details
COG6_HUMANF110A_HUMANBioGRID, IntAct32296183 details
COG6_HUMANPPR18_HUMANBioGRID, IntAct32296183 details
COG6_HUMANWASC3_HUMANBioGRID, IntAct28514442 32296183 details
COG6_HUMANPKHA2_HUMANBioGRID, IntAct32296183 details
COG6_HUMANOAS1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANDRC4_HUMANBioGRID, IntAct32296183 details
COG6_HUMANLMO4_HUMANBioGRID, IntAct32296183 details
COG6_HUMANTYB4_HUMANBioGRID, IntAct32296183 details
COG6_HUMANSYQ_HUMANBioGRID, IntAct32296183 details
COG6_HUMANCUL5_HUMANBioGRID, IntAct32296183 details
COG6_HUMANZN417_HUMANBioGRID, IntAct32296183 details
COG6_HUMANR3GEF_HUMANBioGRID, IntAct32296183 details
COG6_HUMANIGFN1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANTTC7B_HUMANBioGRID, IntAct32296183 details
COG6_HUMANUFSP1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANP121A_HUMANBioGRID, IntAct32296183 details
COG6_HUMANSMRD1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANTB22B_HUMANBioGRID, IntAct32296183 details
COG6_HUMANTSG10_HUMANBioGRID, IntAct32296183 details
COG6_HUMANCSRP2_HUMANBioGRID, IntAct32296183 details
COG6_HUMANKANK2_HUMANBioGRID, IntAct32296183 details
COG6_HUMANBAIP2_HUMANBioGRID, IntAct32296183 details
COG6_HUMANMFAP1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANSNAI1_HUMANBioGRID, IntAct32296183 details
COG6_HUMANTSNAX_HUMANBioGRID, IntAct32296183 details
COG6_HUMANSNP29_HUMANBioGRID, IntAct32296183 details
COG6_HUMANRSMB_HUMANBioGRID, IntAct32296183 details
COG6_HUMANNEK6_HUMANBioGRID, IntAct32296183 details
COG6_HUMANCC120_HUMANBioGRID, IntAct32296183 details
COG6_HUMANRSP14_HUMANBioGRID, IntAct32296183 details
COG6_HUMANCNNM3_HUMANBioGRID, IntAct32296183 details
COG6_HUMANSPG21_HUMANBioGRID, IntAct32296183 details
COG6_HUMANMTNA_HUMANBioGRID, IntAct32296183 details
COG6_HUMANFND11_HUMANBioGRID, IntAct32296183 details
COG6_HUMANNUP58_HUMANBioGRID, IntAct32296183 details
COG6_HUMANDTNB_HUMANBioGRID, IntAct28514442 32296183 details
COG6_HUMANZC3H1_HUMANBioGRID32296183 details
COG6_HUMANSYC2L_HUMANBioGRID32296183 details
COG6_HUMANCC187_HUMANBioGRID32296183 details
COG6_HUMANCOG4_HUMANBioGRID, DIP, IntAct19651599 26344197 28514442 details
COG6_HUMANCOG3_HUMANBioGRID, IntAct11929878 22939629 26186194 26344197 28514442 details
COG6_HUMANMIPT3_HUMANIntAct31413325 details
COG6_HUMANFMR1_HUMANIntAct31413325 details
COG6_HUMANTSC1_HUMANMINT21653829 details
COG6_HUMANEGFR_HUMANBioGRID23956138 details