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Q9Y2V7

- COG6_HUMAN

UniProt

Q9Y2V7 - COG6_HUMAN

Protein

Conserved oligomeric Golgi complex subunit 6

Gene

COG6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 2 (08 Apr 2008)
      Previous versions | rss
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    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 6PRO_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. 12 interactions.
    DIPiDIP-48931N.
    IntActiQ9Y2V7. 1 interaction.
    STRINGi9606.ENSP00000397441.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2V7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the COG6 family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti158 – 1581S → F in CAH10495. (PubMed:15057823)Curated
    Sequence conflicti379 – 3791N → S in CAH10495. (PubMed:15057823)Curated

    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. 1 PublicationVSP_040375Add
    BLAST
    Alternative sequencei76 – 657582Missing in isoform 4. 1 PublicationVSP_040376Add
    BLAST
    Alternative sequencei610 – 6156EQIVKQ → RPPNGP in isoform 2. 1 PublicationVSP_001131
    Alternative sequencei616 – 65742Missing in isoform 2. 1 PublicationVSP_001132Add
    BLAST

    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...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121575. 12 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

    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: October 1, 2014
    This is version 104 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