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Q9Y2V7

- COG6_HUMAN

UniProt

Q9Y2V7 - COG6_HUMAN

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Protein
Conserved oligomeric Golgi complex subunit 6
Gene
COG6, KIAA1134
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for normal Golgi function By similarity.

GO - Biological processi

  1. glycosylation Source: UniProtKB
  2. intra-Golgi vesicle-mediated transport Source: InterPro
  3. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

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
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:18621. COG6.

Subcellular locationi

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB-SubCell
  2. Golgi transport complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti549 – 5491G → V in CDG2L. 1 Publication
VAR_068240
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.1 Publication

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation, Mental retardation

Organism-specific databases

MIMi614576. phenotype.
615328. phenotype.
Orphaneti363523. Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
PharmGKBiPA38604.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 657657Conserved oligomeric Golgi complex subunit 6
PRO_0000213513Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei28 – 281Phosphoserine1 Publication
Modified residuei31 – 311Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9Y2V7.
PaxDbiQ9Y2V7.
PRIDEiQ9Y2V7.

PTM databases

PhosphoSiteiQ9Y2V7.

Expressioni

Gene expression databases

ArrayExpressiQ9Y2V7.
BgeeiQ9Y2V7.
CleanExiHS_COG6.
GenevestigatoriQ9Y2V7.

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.

Protein-protein interaction databases

BioGridi121575. 11 interactions.
DIPiDIP-48931N.
IntActiQ9Y2V7. 1 interaction.
STRINGi9606.ENSP00000397441.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2V7.

Family & Domainsi

Sequence similaritiesi

Belongs to the COG6 family.

Phylogenomic databases

eggNOGiNOG291168.
HOGENOMiHOG000019899.
HOVERGENiHBG025711.
InParanoidiQ9Y2V7.
OMAiLFEFTDK.
OrthoDBiEOG7H7927.
PhylomeDBiQ9Y2V7.
TreeFamiTF314527.

Family and domain databases

InterProiIPR010490. COG6.
[Graphical view]
PANTHERiPTHR21506. PTHR21506. 1 hit.
PfamiPF06419. COG6. 1 hit.
[Graphical view]
SMARTiSM01087. COG6. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND    50
KEMLEALKAL STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE 100
LESISEDVQA MSNCCQDMTS RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA 150
QVADAFLSKF QLTSDEMSLL RGTREGPITE DFFKALGRVK QIHNDVKVLL 200
RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE SCDVSPVLTQ 250
AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH 300
SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT 350
EGVCRPLKVR IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL 400
TTIEEMHLLS KKIFFNSLSL HASKLMDKVE LPPPDLGPSS ALNQTLMLLR 450
EVLASHDSSV VPLDARQADF VQVLSCVLDP LLQMCTVSAS NLGTADMATF 500
MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ ASYVLTRVGL 550
SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL 600
NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ 650
QVQTLLS 657
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101A → T.2 Publications
Corresponds to variant rs3812882 [ dbSNP | Ensembl ].
VAR_048759
Natural varianti32 – 321C → S.2 Publications
Corresponds to variant rs3812883 [ dbSNP | Ensembl ].
VAR_048760
Natural varianti300 – 3001H → Y.
Corresponds to variant rs34555836 [ dbSNP | Ensembl ].
VAR_048761
Natural varianti447 – 4471M → T.
Corresponds to variant rs41286961 [ dbSNP | Ensembl ].
VAR_061110
Natural varianti549 – 5491G → V in CDG2L. 1 Publication
VAR_068240

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei53 – 7523MLEAL…TRRNL → LGILLLSFSWLLFEDSVRDS RRC in isoform 4.
VSP_040375Add
BLAST
Alternative sequencei76 – 657582Missing in isoform 4.
VSP_040376Add
BLAST
Alternative sequencei610 – 6156EQIVKQ → RPPNGP in isoform 2.
VSP_001131
Alternative sequencei616 – 65742Missing in isoform 2.
VSP_001132Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti158 – 1581S → F in CAH10495. 1 Publication
Sequence conflicti379 – 3791N → S in CAH10495. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
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.2. human. [Q9Y2V7-1]
uc010acb.2. human. [Q9Y2V7-2]

Polymorphism databases

DMDMi182676410.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS45042.1. [Q9Y2V7-2 ]
CCDS9370.1. [Q9Y2V7-1 ]
RefSeqi NP_001138551.1. NM_001145079.1. [Q9Y2V7-2 ]
NP_065802.1. NM_020751.2. [Q9Y2V7-1 ]
UniGenei Hs.507805.

3D structure databases

ProteinModelPortali Q9Y2V7.
ModBasei Search...

Protein-protein interaction databases

BioGridi 121575. 11 interactions.
DIPi DIP-48931N.
IntActi Q9Y2V7. 1 interaction.
STRINGi 9606.ENSP00000397441.

PTM databases

PhosphoSitei Q9Y2V7.

Polymorphism databases

DMDMi 182676410.

Proteomic databases

MaxQBi Q9Y2V7.
PaxDbi Q9Y2V7.
PRIDEi Q9Y2V7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356576 ; ENSP00000348983 ; ENSG00000133103 . [Q9Y2V7-4 ]
ENST00000416691 ; ENSP00000403733 ; ENSG00000133103 . [Q9Y2V7-2 ]
ENST00000455146 ; ENSP00000397441 ; ENSG00000133103 . [Q9Y2V7-1 ]
GeneIDi 57511.
KEGGi hsa:57511.
UCSCi uc001uxh.2. human. [Q9Y2V7-1 ]
uc010acb.2. human. [Q9Y2V7-2 ]

Organism-specific databases

CTDi 57511.
GeneCardsi GC13P040229.
GeneReviewsi COG6.
HGNCi HGNC:18621. COG6.
HPAi HPA040410.
HPA040441.
MIMi 606977. gene.
614576. phenotype.
615328. phenotype.
neXtProti NX_Q9Y2V7.
Orphaneti 363523. Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
PharmGKBi PA38604.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG291168.
HOGENOMi HOG000019899.
HOVERGENi HBG025711.
InParanoidi Q9Y2V7.
OMAi LFEFTDK.
OrthoDBi EOG7H7927.
PhylomeDBi Q9Y2V7.
TreeFami TF314527.

Miscellaneous databases

GenomeRNAii 57511.
NextBioi 63870.
PROi Q9Y2V7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y2V7.
Bgeei Q9Y2V7.
CleanExi HS_COG6.
Genevestigatori Q9Y2V7.

Family and domain databases

InterProi IPR010490. COG6.
[Graphical view ]
PANTHERi PTHR21506. PTHR21506. 1 hit.
Pfami PF06419. COG6. 1 hit.
[Graphical view ]
SMARTi SM01087. COG6. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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. 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.

Entry informationi

Entry nameiCOG6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2V7
Secondary accession number(s): Q5T0U1
, Q6AI19, Q86V49, Q9ULT5
Entry historyi
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 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. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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