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Protein

Conserved oligomeric Golgi complex subunit 6

Gene

COG6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for normal Golgi function.By similarity

GO - Biological processi

  • ER to Golgi vesicle-mediated transport Source: Reactome
  • glycosylation Source: UniProtKB
  • intra-Golgi vesicle-mediated transport Source: GO_Central
  • protein transport Source: UniProtKB-KW

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network

Names & Taxonomyi

Protein namesi
Recommended name:
Conserved oligomeric Golgi complex subunit 6
Short name:
COG complex subunit 6
Alternative name(s):
Component of oligomeric Golgi complex 6
Gene namesi
Name:COG6
Synonyms:KIAA1134
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000133103.16
HGNCiHGNC:18621 COG6
MIMi606977 gene
neXtProtiNX_Q9Y2V7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2L (CDG2L)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614576
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068240549G → V in CDG2L. 1 PublicationCorresponds to variant dbSNP:rs387906959EnsemblClinVar.1
Shaheen syndrome (SHNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615328

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi57511
GeneReviewsiCOG6
MalaCardsiCOG6
MIMi614576 phenotype
615328 phenotype
OpenTargetsiENSG00000133103
Orphaneti464443 COG6-CGD
363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
PharmGKBiPA38604

Polymorphism and mutation databases

BioMutaiCOG6
DMDMi182676410

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002135131 – 657Conserved oligomeric Golgi complex subunit 6Add BLAST657

Proteomic databases

EPDiQ9Y2V7
PaxDbiQ9Y2V7
PeptideAtlasiQ9Y2V7
PRIDEiQ9Y2V7
ProteomicsDBi85911
85912 [Q9Y2V7-2]
85913 [Q9Y2V7-4]

PTM databases

iPTMnetiQ9Y2V7
PhosphoSitePlusiQ9Y2V7

Expressioni

Gene expression databases

BgeeiENSG00000133103 Expressed in 206 organ(s), highest expression level in tibia
CleanExiHS_COG6
ExpressionAtlasiQ9Y2V7 baseline and differential
GenevisibleiQ9Y2V7 HS

Organism-specific databases

HPAiHPA040410
HPA040441

Interactioni

Subunit structurei

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

Binary interactionsi

Protein-protein interaction databases

BioGridi121575, 71 interactors
CORUMiQ9Y2V7
DIPiDIP-48931N
IntActiQ9Y2V7, 72 interactors
MINTiQ9Y2V7
STRINGi9606.ENSP00000397441

Structurei

3D structure databases

ProteinModelPortaliQ9Y2V7
SMRiQ9Y2V7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COG6 family.Curated

Phylogenomic databases

eggNOGiKOG3758 Eukaryota
ENOG410Y72M LUCA
GeneTreeiENSGT00390000013518
HOGENOMiHOG000019899
HOVERGENiHBG025711
InParanoidiQ9Y2V7
KOiK20293
OMAiLFEFTDK
OrthoDBiEOG091G03P0
PhylomeDBiQ9Y2V7
TreeFamiTF314527

Family and domain databases

InterProiView protein in InterPro
IPR010490 COG6
PANTHERiPTHR21506 PTHR21506, 1 hit
PfamiView protein in Pfam
PF06419 COG6, 1 hit
SMARTiView protein in SMART
SM01087 COG6, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2V7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND
60 70 80 90 100
KEMLEALKAL STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE
110 120 130 140 150
LESISEDVQA MSNCCQDMTS RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA
160 170 180 190 200
QVADAFLSKF QLTSDEMSLL RGTREGPITE DFFKALGRVK QIHNDVKVLL
210 220 230 240 250
RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE SCDVSPVLTQ
260 270 280 290 300
AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH
310 320 330 340 350
SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT
360 370 380 390 400
EGVCRPLKVR IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL
410 420 430 440 450
TTIEEMHLLS KKIFFNSLSL HASKLMDKVE LPPPDLGPSS ALNQTLMLLR
460 470 480 490 500
EVLASHDSSV VPLDARQADF VQVLSCVLDP LLQMCTVSAS NLGTADMATF
510 520 530 540 550
MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ ASYVLTRVGL
560 570 580 590 600
SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL
610 620 630 640 650
NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ

QVQTLLS
Length:657
Mass (Da):73,279
Last modified:April 8, 2008 - v2
Checksum:i0F29785E722B5185
GO
Isoform 2 (identifier: Q9Y2V7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     610-615: EQIVKQ → RPPNGP
     616-657: Missing.

Note: No experimental confirmation available.
Show »
Length:615
Mass (Da):68,411
Checksum:i5329CF6140B57331
GO
Isoform 4 (identifier: Q9Y2V7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-75: MLEALKALSTFFVENSLRTRRNL → LGILLLSFSWLLFEDSVRDSRRC
     76-657: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:75
Mass (Da):7,936
Checksum:i42D1F36A3CDA1016
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YGX8H0YGX8_HUMAN
Conserved oligomeric Golgi complex ...
COG6
134Annotation score:
F5GX38F5GX38_HUMAN
Conserved oligomeric Golgi complex ...
COG6
62Annotation score:
F5GX76F5GX76_HUMAN
Conserved oligomeric Golgi complex ...
COG6
61Annotation score:

Sequence cautioni

The sequence AAD29633 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti158S → F in CAH10495 (PubMed:15057823).Curated1
Sequence conflicti379N → S in CAH10495 (PubMed:15057823).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04875910A → T2 PublicationsCorresponds to variant dbSNP:rs3812882EnsemblClinVar.1
Natural variantiVAR_04876032C → S2 PublicationsCorresponds to variant dbSNP:rs3812883EnsemblClinVar.1
Natural variantiVAR_048761300H → Y. Corresponds to variant dbSNP:rs34555836EnsemblClinVar.1
Natural variantiVAR_061110447M → T. Corresponds to variant dbSNP:rs41286961EnsemblClinVar.1
Natural variantiVAR_068240549G → V in CDG2L. 1 PublicationCorresponds to variant dbSNP:rs387906959EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04037553 – 75MLEAL…TRRNL → LGILLLSFSWLLFEDSVRDS RRC in isoform 4. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_04037676 – 657Missing in isoform 4. 1 PublicationAdd BLAST582
Alternative sequenceiVSP_001131610 – 615EQIVKQ → RPPNGP in isoform 2. 1 Publication6
Alternative sequenceiVSP_001132616 – 657Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR627406 mRNA Translation: CAH10495.1
AL512505 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08619.1
BC051723 mRNA Translation: AAH51723.1
AB032960 mRNA Translation: BAA86448.1
AF116827 mRNA Translation: AAD29633.1 Sequence problems.
CCDSiCCDS45042.1 [Q9Y2V7-2]
CCDS9370.1 [Q9Y2V7-1]
RefSeqiNP_001138551.1, NM_001145079.1 [Q9Y2V7-2]
NP_065802.1, NM_020751.2 [Q9Y2V7-1]
UniGeneiHs.507805

Genome annotation databases

EnsembliENST00000356576; ENSP00000348983; ENSG00000133103 [Q9Y2V7-4]
ENST00000416691; ENSP00000403733; ENSG00000133103 [Q9Y2V7-2]
ENST00000455146; ENSP00000397441; ENSG00000133103 [Q9Y2V7-1]
GeneIDi57511
KEGGihsa:57511
UCSCiuc001uxh.3 human [Q9Y2V7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR627406 mRNA Translation: CAH10495.1
AL512505 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08619.1
BC051723 mRNA Translation: AAH51723.1
AB032960 mRNA Translation: BAA86448.1
AF116827 mRNA Translation: AAD29633.1 Sequence problems.
CCDSiCCDS45042.1 [Q9Y2V7-2]
CCDS9370.1 [Q9Y2V7-1]
RefSeqiNP_001138551.1, NM_001145079.1 [Q9Y2V7-2]
NP_065802.1, NM_020751.2 [Q9Y2V7-1]
UniGeneiHs.507805

3D structure databases

ProteinModelPortaliQ9Y2V7
SMRiQ9Y2V7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121575, 71 interactors
CORUMiQ9Y2V7
DIPiDIP-48931N
IntActiQ9Y2V7, 72 interactors
MINTiQ9Y2V7
STRINGi9606.ENSP00000397441

PTM databases

iPTMnetiQ9Y2V7
PhosphoSitePlusiQ9Y2V7

Polymorphism and mutation databases

BioMutaiCOG6
DMDMi182676410

Proteomic databases

EPDiQ9Y2V7
PaxDbiQ9Y2V7
PeptideAtlasiQ9Y2V7
PRIDEiQ9Y2V7
ProteomicsDBi85911
85912 [Q9Y2V7-2]
85913 [Q9Y2V7-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356576; ENSP00000348983; ENSG00000133103 [Q9Y2V7-4]
ENST00000416691; ENSP00000403733; ENSG00000133103 [Q9Y2V7-2]
ENST00000455146; ENSP00000397441; ENSG00000133103 [Q9Y2V7-1]
GeneIDi57511
KEGGihsa:57511
UCSCiuc001uxh.3 human [Q9Y2V7-1]

Organism-specific databases

CTDi57511
DisGeNETi57511
EuPathDBiHostDB:ENSG00000133103.16
GeneCardsiCOG6
GeneReviewsiCOG6
HGNCiHGNC:18621 COG6
HPAiHPA040410
HPA040441
MalaCardsiCOG6
MIMi606977 gene
614576 phenotype
615328 phenotype
neXtProtiNX_Q9Y2V7
OpenTargetsiENSG00000133103
Orphaneti464443 COG6-CGD
363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
PharmGKBiPA38604
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3758 Eukaryota
ENOG410Y72M LUCA
GeneTreeiENSGT00390000013518
HOGENOMiHOG000019899
HOVERGENiHBG025711
InParanoidiQ9Y2V7
KOiK20293
OMAiLFEFTDK
OrthoDBiEOG091G03P0
PhylomeDBiQ9Y2V7
TreeFamiTF314527

Enzyme and pathway databases

ReactomeiR-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network

Miscellaneous databases

ChiTaRSiCOG6 human
GenomeRNAii57511
PROiPR:Q9Y2V7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133103 Expressed in 206 organ(s), highest expression level in tibia
CleanExiHS_COG6
ExpressionAtlasiQ9Y2V7 baseline and differential
GenevisibleiQ9Y2V7 HS

Family and domain databases

InterProiView protein in InterPro
IPR010490 COG6
PANTHERiPTHR21506 PTHR21506, 1 hit
PfamiView protein in Pfam
PF06419 COG6, 1 hit
SMARTiView protein in SMART
SM01087 COG6, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOG6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2V7
Secondary accession number(s): Q5T0U1
, Q6AI19, Q86V49, Q9ULT5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2002
Last sequence update: April 8, 2008
Last modified: November 7, 2018
This is version 141 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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