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Q9UP83

- COG5_HUMAN

UniProt

Q9UP83 - COG5_HUMAN

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Protein
Conserved oligomeric Golgi complex subunit 5
Gene
COG5, GOLTC1, GTC90
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 - Molecular functioni

  1. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. intra-Golgi vesicle-mediated transport Source: UniProtKB
  2. 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 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. Golgi apparatus membrane; Peripheral membrane protein 1 Publication

GO - Cellular componenti

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

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

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 5
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the COG5 family.

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

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.
VSP_031610
Alternative sequencei803 – 83937Missing in isoform 3.
VSP_031611Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti112 – 1121A → V in AAC69276. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 108 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

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