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Q9UP83 (COG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:COG5
Synonyms:GOLTC1, GTC90
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length839 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

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

Involvement in disease

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. Ref.8

Sequence similarities

Belongs to the COG5 family.

Caution

It is uncertain whether Met-1 or Met-32 is the initiator.

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UP83-1)

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: Q9UP83-2)

The sequence of this isoform differs from the canonical sequence as follows:
     593-593: K → KVVSSQSSFPLAAEQTIISALK
Isoform 3 (identifier: Q9UP83-3)

The sequence of this isoform differs from the canonical sequence as follows:
     593-593: K → KVVSSQSSFPLAAEQTIISALK
     803-839: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 839839Conserved oligomeric Golgi complex subunit 5
PRO_0000213510

Amino acid modifications

Modified residue1971Phosphoserine Ref.6 Ref.7

Natural variations

Alternative sequence5931K → KVVSSQSSFPLAAEQTIISA LK in isoform 2 and isoform 3.
VSP_031610
Alternative sequence803 – 83937Missing in isoform 3.
VSP_031611
Natural variant3301F → L. Ref.1 Ref.5
Corresponds to variant rs2269970 [ dbSNP | Ensembl ].
VAR_039142
Natural variant3651I → V.
Corresponds to variant rs34087251 [ dbSNP | Ensembl ].
VAR_039182
Natural variant4521H → R.
Corresponds to variant rs35393416 [ dbSNP | Ensembl ].
VAR_055664
Natural variant5581S → P. Ref.1
VAR_039143

Experimental info

Sequence conflict1121A → V in AAC69276. Ref.1

Sequences

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

Last modified May 18, 2010. Version 3.
Checksum: 95BD2E254A0C3FF7

FASTA83992,743
        10         20         30         40         50         60 
MGWVGGRRRD SASPPGRSRS AADDINPAPA NMEGGGGSVA VAGLGARGSG AAAATVRELL 

        70         80         90        100        110        120 
QDGCYSDFLN EDFDVKTYTS QSIHQAVIAE QLAKLAQGIS QLDRELHLQV VARHEDLLAQ 

       130        140        150        160        170        180 
ATGIESLEGV LQMMQTRIGA LQGAVDRIKA KIVEPYNKIV ARTAQLARLQ VACDLLRRII 

       190        200        210        220        230        240 
RILNLSKRLQ GQLQGGSREI TKAAQSLNEL DYLSQGIDLS GIEVIENDLL FIARARLEVE 

       250        260        270        280        290        300 
NQAKRLLEQG LETQNPTQVG TALQVFYNLG TLKDTITSVV DGYCATLEEN INSALDIKVL 

       310        320        330        340        350        360 
TQPSQSAVRG GPGRSTMPTP GNTAALRASF WTNMEKLMDH IYAVCGQVQH LQKVLAKKRD 

       370        380        390        400        410        420 
PVSHICFIEE IVKDGQPEIF YTFWNSVTQA LSSQFHMATN SSMFLKQAFE GEYPKLLRLY 

       430        440        450        460        470        480 
NDLWKRLQQY SQHIQGNFNA SGTTDLYVDL QHMEDDAQDI FIPKKPDYDP EKALKDSLQP 

       490        500        510        520        530        540 
YEAAYLSKSL SRLFDPINLV FPPGGRNPPS SDELDGIIKT IASELNVAAV DTNLTLAVSK 

       550        560        570        580        590        600 
NVAKTIQLYS VKSEQLLSTQ GDASQVIGPL TEGQRRNVAV VNSLYKLHQS VTKAIHALME 

       610        620        630        640        650        660 
NAVQPLLTSV GDAIEAIIIT MHQEDFSGSL SSSGKPDVPC SLYMKELQGF IARVMSDYFK 

       670        680        690        700        710        720 
HFECLDFVFD NTEAIAQRAV ELFIRHASLI RPLGEGGKMR LAADFAQMEL AVGPFCRRVS 

       730        740        750        760        770        780 
DLGKSYRMLR SFRPLLFQAS EHVASSPALG DVIPFSIIIQ FLFTRAPAEL KSPFQRAEWS 

       790        800        810        820        830 
HTRFSQWLDD HPSEKDRLLL IRGALEAYVQ SVRSREGKEF APVYPIMVQL LQKAMSALQ 

« Hide

Isoform 2 [UniParc].

Checksum: CE98BD7F82CB7D82
Show »

FASTA86094,901
Isoform 3 [UniParc].

Checksum: 6E8DA2EC605D40D3
Show »

FASTA82390,810

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]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].
[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]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
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]"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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS55152.1. [Q9UP83-3]
CCDS5742.1. [Q9UP83-2]
CCDS5743.1. [Q9UP83-1]
RefSeqNP_001154992.1. NM_001161520.1. [Q9UP83-3]
NP_006339.3. NM_006348.3. [Q9UP83-2]
NP_859422.2. NM_181733.2. [Q9UP83-1]
UniGeneHs.239631.

3D structure databases

ProteinModelPortalQ9UP83.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115729. 17 interactions.
IntActQ9UP83. 11 interactions.
STRING9606.ENSP00000297135.

PTM databases

PhosphoSiteQ9UP83.

Polymorphism databases

DMDM296439390.

Proteomic databases

MaxQBQ9UP83.
PaxDbQ9UP83.
PRIDEQ9UP83.

Protocols and materials databases

DNASU10466.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297135; ENSP00000297135; ENSG00000164597. [Q9UP83-2]
ENST00000347053; ENSP00000334703; ENSG00000164597. [Q9UP83-1]
ENST00000393603; ENSP00000377228; ENSG00000164597. [Q9UP83-3]
GeneID10466.
KEGGhsa:10466.
UCSCuc003vec.2. human. [Q9UP83-2]
uc003ved.2. human. [Q9UP83-1]
uc003vee.2. human. [Q9UP83-3]

Organism-specific databases

CTD10466.
GeneCardsGC07M106842.
GeneReviewsCOG5.
HGNCHGNC:14857. COG5.
HPAHPA020300.
MIM606821. gene.
613612. phenotype.
neXtProtNX_Q9UP83.
Orphanet263487. COG5-CDG.
PharmGKBPA26698.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG298306.
HOGENOMHOG000170357.
HOVERGENHBG051063.
OMAALQVFYN.
OrthoDBEOG7P5T08.
PhylomeDBQ9UP83.
TreeFamTF313139.

Gene expression databases

ArrayExpressQ9UP83.
BgeeQ9UP83.
CleanExHS_COG5.
GenevestigatorQ9UP83.

Family and domain databases

InterProIPR019465. Cog5.
[Graphical view]
PANTHERPTHR13228. PTHR13228. 1 hit.
PfamPF10392. COG5. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCOG5.
GenomeRNAi10466.
NextBio39689.
PROQ9UP83.
SOURCESearch...

Entry information

Entry nameCOG5_HUMAN
AccessionPrimary (citable) accession number: Q9UP83
Secondary accession number(s): A4D0R6 expand/collapse secondary AC list , A4D0R7, O14555, O95008, Q6NUL5
Entry history
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 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 7

Human chromosome 7: entries, gene names and cross-references to MIM