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Q9UP83

- COG5_HUMAN

UniProt

Q9UP83 - COG5_HUMAN

Protein

Conserved oligomeric Golgi complex subunit 5

Gene

COG5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Required for normal Golgi function.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. intra-Golgi vesicle-mediated transport Source: UniProtKB
    2. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Conserved oligomeric Golgi complex subunit 5
    Short name:
    COG complex subunit 5
    Alternative name(s):
    13S Golgi transport complex 90 kDa subunit
    Short name:
    GTC-90
    Component of oligomeric Golgi complex 5
    Golgi transport complex 1
    Gene namesi
    Name:COG5
    Synonyms:GOLTC1, GTC90
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:14857. COG5.

    Subcellular locationi

    Cytoplasmcytosol 1 Publication. Golgi apparatus membrane 1 Publication; Peripheral membrane protein 1 Publication

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. Golgi apparatus Source: UniProtKB
    3. Golgi membrane Source: UniProtKB-SubCell
    4. Golgi transport complex Source: UniProtKB
    5. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 2I (CDG2I) [MIM:613612]: 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Congenital disorder of glycosylation

    Organism-specific databases

    MIMi613612. phenotype.
    Orphaneti263487. COG5-CDG.
    PharmGKBiPA26698.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 839839Conserved oligomeric Golgi complex subunit 5PRO_0000213510Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei197 – 1971Phosphoserine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UP83.
    PaxDbiQ9UP83.
    PRIDEiQ9UP83.

    PTM databases

    PhosphoSiteiQ9UP83.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UP83.
    BgeeiQ9UP83.
    CleanExiHS_COG5.
    GenevestigatoriQ9UP83.

    Organism-specific databases

    HPAiHPA020300.

    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

    WithEntry#Exp.IntActNotes
    COG4Q9H9E32EBI-389502,EBI-368382
    COG7P834362EBI-389502,EBI-389534

    Protein-protein interaction databases

    BioGridi115729. 17 interactions.
    IntActiQ9UP83. 11 interactions.
    STRINGi9606.ENSP00000297135.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UP83.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the COG5 family.Curated

    Phylogenomic databases

    eggNOGiNOG298306.
    HOGENOMiHOG000170357.
    HOVERGENiHBG051063.
    OMAiALQVFYN.
    OrthoDBiEOG7P5T08.
    PhylomeDBiQ9UP83.
    TreeFamiTF313139.

    Family and domain databases

    InterProiIPR019465. Cog5.
    [Graphical view]
    PANTHERiPTHR13228. PTHR13228. 1 hit.
    PfamiPF10392. COG5. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UP83-1) [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

    MGWVGGRRRD SASPPGRSRS AADDINPAPA NMEGGGGSVA VAGLGARGSG    50
    AAAATVRELL QDGCYSDFLN EDFDVKTYTS QSIHQAVIAE QLAKLAQGIS 100
    QLDRELHLQV VARHEDLLAQ ATGIESLEGV LQMMQTRIGA LQGAVDRIKA 150
    KIVEPYNKIV ARTAQLARLQ VACDLLRRII RILNLSKRLQ GQLQGGSREI 200
    TKAAQSLNEL DYLSQGIDLS GIEVIENDLL FIARARLEVE NQAKRLLEQG 250
    LETQNPTQVG TALQVFYNLG TLKDTITSVV DGYCATLEEN INSALDIKVL 300
    TQPSQSAVRG GPGRSTMPTP GNTAALRASF WTNMEKLMDH IYAVCGQVQH 350
    LQKVLAKKRD PVSHICFIEE IVKDGQPEIF YTFWNSVTQA LSSQFHMATN 400
    SSMFLKQAFE GEYPKLLRLY NDLWKRLQQY SQHIQGNFNA SGTTDLYVDL 450
    QHMEDDAQDI FIPKKPDYDP EKALKDSLQP YEAAYLSKSL SRLFDPINLV 500
    FPPGGRNPPS SDELDGIIKT IASELNVAAV DTNLTLAVSK NVAKTIQLYS 550
    VKSEQLLSTQ GDASQVIGPL TEGQRRNVAV VNSLYKLHQS VTKAIHALME 600
    NAVQPLLTSV GDAIEAIIIT MHQEDFSGSL SSSGKPDVPC SLYMKELQGF 650
    IARVMSDYFK HFECLDFVFD NTEAIAQRAV ELFIRHASLI RPLGEGGKMR 700
    LAADFAQMEL AVGPFCRRVS DLGKSYRMLR SFRPLLFQAS EHVASSPALG 750
    DVIPFSIIIQ FLFTRAPAEL KSPFQRAEWS HTRFSQWLDD HPSEKDRLLL 800
    IRGALEAYVQ SVRSREGKEF APVYPIMVQL LQKAMSALQ 839
    Length:839
    Mass (Da):92,743
    Last modified:May 18, 2010 - v3
    Checksum:i95BD2E254A0C3FF7
    GO
    Isoform 2 (identifier: Q9UP83-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         593-593: K → KVVSSQSSFPLAAEQTIISALK

    Show »
    Length:860
    Mass (Da):94,901
    Checksum:iCE98BD7F82CB7D82
    GO
    Isoform 3 (identifier: Q9UP83-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         593-593: K → KVVSSQSSFPLAAEQTIISALK
         803-839: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:823
    Mass (Da):90,810
    Checksum:i6E8DA2EC605D40D3
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti112 – 1121A → V in AAC69276. (PubMed:9792665)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti330 – 3301F → L.2 Publications
    Corresponds to variant rs2269970 [ dbSNP | Ensembl ].
    VAR_039142
    Natural varianti365 – 3651I → V.
    Corresponds to variant rs34087251 [ dbSNP | Ensembl ].
    VAR_039182
    Natural varianti452 – 4521H → R.
    Corresponds to variant rs35393416 [ dbSNP | Ensembl ].
    VAR_055664
    Natural varianti558 – 5581S → P.1 Publication
    VAR_039143

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei593 – 5931K → KVVSSQSSFPLAAEQTIISA LK in isoform 2 and isoform 3. 1 PublicationVSP_031610
    Alternative sequencei803 – 83937Missing in isoform 3. 1 PublicationVSP_031611Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF058718 mRNA. Translation: AAC69276.1.
    AC002381 Genomic DNA. Translation: AAB63816.2.
    AC004855 Genomic DNA. Translation: AAC83406.1.
    CH236947 Genomic DNA. Translation: EAL24392.1.
    CH236947 Genomic DNA. Translation: EAL24393.1.
    CH471070 Genomic DNA. Translation: EAW83395.1.
    CH471070 Genomic DNA. Translation: EAW83396.1.
    BC068540 mRNA. Translation: AAH68540.1.
    CCDSiCCDS55152.1. [Q9UP83-3]
    CCDS5742.1. [Q9UP83-2]
    CCDS5743.1. [Q9UP83-1]
    RefSeqiNP_001154992.1. NM_001161520.1. [Q9UP83-3]
    NP_006339.3. NM_006348.3. [Q9UP83-2]
    NP_859422.2. NM_181733.2. [Q9UP83-1]
    UniGeneiHs.239631.

    Genome annotation databases

    EnsembliENST00000297135; ENSP00000297135; ENSG00000164597. [Q9UP83-2]
    ENST00000347053; ENSP00000334703; ENSG00000164597. [Q9UP83-1]
    ENST00000393603; ENSP00000377228; ENSG00000164597. [Q9UP83-3]
    GeneIDi10466.
    KEGGihsa:10466.
    UCSCiuc003vec.2. human. [Q9UP83-2]
    uc003ved.2. human. [Q9UP83-1]
    uc003vee.2. human. [Q9UP83-3]

    Polymorphism databases

    DMDMi296439390.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF058718 mRNA. Translation: AAC69276.1 .
    AC002381 Genomic DNA. Translation: AAB63816.2 .
    AC004855 Genomic DNA. Translation: AAC83406.1 .
    CH236947 Genomic DNA. Translation: EAL24392.1 .
    CH236947 Genomic DNA. Translation: EAL24393.1 .
    CH471070 Genomic DNA. Translation: EAW83395.1 .
    CH471070 Genomic DNA. Translation: EAW83396.1 .
    BC068540 mRNA. Translation: AAH68540.1 .
    CCDSi CCDS55152.1. [Q9UP83-3 ]
    CCDS5742.1. [Q9UP83-2 ]
    CCDS5743.1. [Q9UP83-1 ]
    RefSeqi NP_001154992.1. NM_001161520.1. [Q9UP83-3 ]
    NP_006339.3. NM_006348.3. [Q9UP83-2 ]
    NP_859422.2. NM_181733.2. [Q9UP83-1 ]
    UniGenei Hs.239631.

    3D structure databases

    ProteinModelPortali Q9UP83.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115729. 17 interactions.
    IntActi Q9UP83. 11 interactions.
    STRINGi 9606.ENSP00000297135.

    PTM databases

    PhosphoSitei Q9UP83.

    Polymorphism databases

    DMDMi 296439390.

    Proteomic databases

    MaxQBi Q9UP83.
    PaxDbi Q9UP83.
    PRIDEi Q9UP83.

    Protocols and materials databases

    DNASUi 10466.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297135 ; ENSP00000297135 ; ENSG00000164597 . [Q9UP83-2 ]
    ENST00000347053 ; ENSP00000334703 ; ENSG00000164597 . [Q9UP83-1 ]
    ENST00000393603 ; ENSP00000377228 ; ENSG00000164597 . [Q9UP83-3 ]
    GeneIDi 10466.
    KEGGi hsa:10466.
    UCSCi uc003vec.2. human. [Q9UP83-2 ]
    uc003ved.2. human. [Q9UP83-1 ]
    uc003vee.2. human. [Q9UP83-3 ]

    Organism-specific databases

    CTDi 10466.
    GeneCardsi GC07M106842.
    GeneReviewsi COG5.
    HGNCi HGNC:14857. COG5.
    HPAi HPA020300.
    MIMi 606821. gene.
    613612. phenotype.
    neXtProti NX_Q9UP83.
    Orphaneti 263487. COG5-CDG.
    PharmGKBi PA26698.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG298306.
    HOGENOMi HOG000170357.
    HOVERGENi HBG051063.
    OMAi ALQVFYN.
    OrthoDBi EOG7P5T08.
    PhylomeDBi Q9UP83.
    TreeFami TF313139.

    Miscellaneous databases

    GeneWikii COG5.
    GenomeRNAii 10466.
    NextBioi 39689.
    PROi Q9UP83.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UP83.
    Bgeei Q9UP83.
    CleanExi HS_COG5.
    Genevestigatori Q9UP83.

    Family and domain databases

    InterProi IPR019465. Cog5.
    [Graphical view ]
    PANTHERi PTHR13228. PTHR13228. 1 hit.
    Pfami PF10392. COG5. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Purification and characterization of a novel 13 S hetero-oligomeric protein complex that stimulates in vitro Golgi transport."
      Walter D.M., Paul K.S., Waters M.G.
      J. Biol. Chem. 273:29565-29576(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, VARIANTS LEU-330 AND PRO-558.
      Tissue: Brain.
    2. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 3), VARIANT LEU-330.
      Tissue: Testis.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-197, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation."
      Paesold-Burda P., Maag C., Troxler H., Foulquier F., Kleinert P., Schnabel S., Baumgartner M., Hennet T.
      Hum. Mol. Genet. 18:4350-4356(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CDG2I.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCOG5_HUMAN
    AccessioniPrimary (citable) accession number: Q9UP83
    Secondary accession number(s): A4D0R6
    , A4D0R7, O14555, O95008, Q6NUL5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2002
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 109 of the entry and version 3 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 7
      Human chromosome 7: 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