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Q9Y2V7 (COG6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Conserved oligomeric Golgi complex subunit 6

Short name=COG complex subunit 6
Alternative name(s):
Component of oligomeric Golgi complex 6
Gene names
Name:COG6
Synonyms:KIAA1134
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length657 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for normal Golgi function By similarity.

Subunit structure

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.

Involvement in disease

Congenital disorder of glycosylation 2L (CDG2L) [MIM:614576]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Shaheen syndrome (SHNS) [MIM:615328]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the COG6 family.

Sequence caution

The sequence AAD29633.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2V7-1)

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.
Isoform 2 (identifier: Q9Y2V7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     610-615: EQIVKQ → RPPNGP
     616-657: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9Y2V7-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 657657Conserved oligomeric Golgi complex subunit 6
PRO_0000213513

Amino acid modifications

Modified residue281Phosphoserine Ref.8
Modified residue311Phosphothreonine Ref.8

Natural variations

Alternative sequence53 – 7523MLEAL…TRRNL → LGILLLSFSWLLFEDSVRDS RRC in isoform 4.
VSP_040375
Alternative sequence76 – 657582Missing in isoform 4.
VSP_040376
Alternative sequence610 – 6156EQIVKQ → RPPNGP in isoform 2.
VSP_001131
Alternative sequence616 – 65742Missing in isoform 2.
VSP_001132
Natural variant101A → T. Ref.1 Ref.6
Corresponds to variant rs3812882 [ dbSNP | Ensembl ].
VAR_048759
Natural variant321C → S. Ref.1 Ref.6
Corresponds to variant rs3812883 [ dbSNP | Ensembl ].
VAR_048760
Natural variant3001H → Y.
Corresponds to variant rs34555836 [ dbSNP | Ensembl ].
VAR_048761
Natural variant4471M → T.
Corresponds to variant rs41286961 [ dbSNP | Ensembl ].
VAR_061110
Natural variant5491G → V in CDG2L. Ref.11
VAR_068240

Experimental info

Sequence conflict1581S → F in CAH10495. Ref.2
Sequence conflict3791N → S in CAH10495. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 8, 2008. Version 2.
Checksum: 0F29785E722B5185

FASTA65773,279
        10         20         30         40         50         60 
MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND KEMLEALKAL 

        70         80         90        100        110        120 
STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE LESISEDVQA MSNCCQDMTS 

       130        140        150        160        170        180 
RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA QVADAFLSKF QLTSDEMSLL RGTREGPITE 

       190        200        210        220        230        240 
DFFKALGRVK QIHNDVKVLL RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE 

       250        260        270        280        290        300 
SCDVSPVLTQ AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH 

       310        320        330        340        350        360 
SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT EGVCRPLKVR 

       370        380        390        400        410        420 
IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL TTIEEMHLLS KKIFFNSLSL 

       430        440        450        460        470        480 
HASKLMDKVE LPPPDLGPSS ALNQTLMLLR EVLASHDSSV VPLDARQADF VQVLSCVLDP 

       490        500        510        520        530        540 
LLQMCTVSAS NLGTADMATF MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ 

       550        560        570        580        590        600 
ASYVLTRVGL SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL 

       610        620        630        640        650 
NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ QVQTLLS 

« Hide

Isoform 2 [UniParc].

Checksum: 5329CF6140B57331
Show »

FASTA61568,411
Isoform 4 [UniParc].

Checksum: 42D1F36A3CDA1016
Show »

FASTA757,936

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-10 AND SER-32.
Tissue: Fetal skin.
[2]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[5]"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-657 (ISOFORM 2).
Tissue: Brain.
[6]Wei Y.J., Ding J.F., Xiong H., Zhou Y., Hui R.T., Liew C.C.
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-657 (ISOFORM 4), VARIANTS THR-10 AND SER-32.
Tissue: Aorta.
[7]"Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function."
Ungar D., Oka T., Brittle E.E., Vasile E., Lupashin V.V., Chatterton J.E., Heuser J.E., Krieger M., Waters M.G.
J. Cell Biol. 157:405-415(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-28 AND THR-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency."
Shaheen R., Ansari S., Alshammari M.J., Alkhalidi H., Alrukban H., Eyaid W., Alkuraya F.S.
J. Med. Genet. 50:431-436(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SHNS.
[11]"Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation."
Lubbehusen J., Thiel C., Rind N., Ungar D., Prinsen B.H., de Koning T.J., van Hasselt P.M., Korner C.
Hum. Mol. Genet. 19:3623-3633(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CDG2L VAL-549.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CR627406 mRNA. Translation: CAH10495.1.
AL512505 Genomic DNA. Translation: CAI16937.1.
AL512505 Genomic DNA. Translation: CAM23735.1.
CH471075 Genomic DNA. Translation: EAX08619.1.
BC051723 mRNA. Translation: AAH51723.1.
AB032960 mRNA. Translation: BAA86448.1.
AF116827 mRNA. Translation: AAD29633.1. Sequence problems.
CCDSCCDS45042.1. [Q9Y2V7-2]
CCDS9370.1. [Q9Y2V7-1]
RefSeqNP_001138551.1. NM_001145079.1. [Q9Y2V7-2]
NP_065802.1. NM_020751.2. [Q9Y2V7-1]
UniGeneHs.507805.

3D structure databases

ProteinModelPortalQ9Y2V7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121575. 11 interactions.
DIPDIP-48931N.
IntActQ9Y2V7. 1 interaction.
STRING9606.ENSP00000397441.

PTM databases

PhosphoSiteQ9Y2V7.

Polymorphism databases

DMDM182676410.

Proteomic databases

MaxQBQ9Y2V7.
PaxDbQ9Y2V7.
PRIDEQ9Y2V7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356576; ENSP00000348983; ENSG00000133103. [Q9Y2V7-4]
ENST00000416691; ENSP00000403733; ENSG00000133103. [Q9Y2V7-2]
ENST00000455146; ENSP00000397441; ENSG00000133103. [Q9Y2V7-1]
GeneID57511.
KEGGhsa:57511.
UCSCuc001uxh.2. human. [Q9Y2V7-1]
uc010acb.2. human. [Q9Y2V7-2]

Organism-specific databases

CTD57511.
GeneCardsGC13P040229.
GeneReviewsCOG6.
HGNCHGNC:18621. COG6.
HPAHPA040410.
HPA040441.
MIM606977. gene.
614576. phenotype.
615328. phenotype.
neXtProtNX_Q9Y2V7.
Orphanet363523. Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
PharmGKBPA38604.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG291168.
HOGENOMHOG000019899.
HOVERGENHBG025711.
InParanoidQ9Y2V7.
OMALFEFTDK.
OrthoDBEOG7H7927.
PhylomeDBQ9Y2V7.
TreeFamTF314527.

Gene expression databases

ArrayExpressQ9Y2V7.
BgeeQ9Y2V7.
CleanExHS_COG6.
GenevestigatorQ9Y2V7.

Family and domain databases

InterProIPR010490. COG6.
[Graphical view]
PANTHERPTHR21506. PTHR21506. 1 hit.
PfamPF06419. COG6. 1 hit.
[Graphical view]
SMARTSM01087. COG6. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57511.
NextBio63870.
PROQ9Y2V7.
SOURCESearch...

Entry information

Entry nameCOG6_HUMAN
AccessionPrimary (citable) accession number: Q9Y2V7
Secondary accession number(s): Q5T0U1 expand/collapse secondary AC list , Q6AI19, Q86V49, Q9ULT5
Entry history
Integrated into UniProtKB/Swiss-Prot: August 30, 2002
Last sequence update: April 8, 2008
Last modified: July 9, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM