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Conserved oligomeric Golgi complex subunit 7 (COG complex subunit 7) (Component of oligomeric Golgi complex 7)

 COG7_HUMAN              Reviewed;         770 AA.
P83436; Q6UWU7;
30-AUG-2002, integrated into UniProtKB/Swiss-Prot.
30-AUG-2002, sequence version 1.
20-JUN-2018, entry version 134.
RecName: Full=Conserved oligomeric Golgi complex subunit 7;
Short=COG complex subunit 7;
AltName: Full=Component of oligomeric Golgi complex 7;
Name=COG7; ORFNames=UNQ3082/PRO10013;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Mammary gland;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 257-770.
PubMed=12975309; DOI=10.1101/gr.1293003;
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
Wood W.I., Godowski P.J., Gray A.M.;
"The secreted protein discovery initiative (SPDI), a large-scale
effort to identify novel human secreted and transmembrane proteins: a
bioinformatics assessment.";
Genome Res. 13:2265-2270(2003).
[3]
IDENTIFICATION, SUBUNIT, AND SUBCELLULAR LOCATION.
PubMed=11980916; DOI=10.1083/jcb.200202016;
Ungar D., Oka T., Brittle E.E., Vasile E., Lupashin V.V.,
Chatterton J.E., Heuser J.E., Krieger M., Waters M.G.;
"Characterization of a mammalian Golgi-localized protein complex, COG,
that is required for normal Golgi morphology and function.";
J. Cell Biol. 157:405-415(2002).
[4]
INVOLVEMENT IN CDG2E.
PubMed=15107842; DOI=10.1038/nm1041;
Wu X., Steet R.A., Bohorov O., Bakker J., Newell J., Krieger M.,
Spaapen L., Kornfeld S., Freeze H.H.;
"Mutation of the COG complex subunit gene COG7 causes a lethal
congenital disorder.";
Nat. Med. 10:518-523(2004).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
Greff Z., Keri G., Stemmann O., Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of
the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
[6]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[7]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
-!- FUNCTION: Required for normal Golgi function. {ECO:0000250}.
-!- SUBUNIT: Component of the conserved oligomeric Golgi complex which
is composed of eight different subunits and is required for normal
Golgi morphology and localization. {ECO:0000269|PubMed:11980916}.
-!- INTERACTION:
Q9H9E3:COG4; NbExp=4; IntAct=EBI-389534, EBI-368382;
Q9UP83:COG5; NbExp=2; IntAct=EBI-389534, EBI-389502;
Q9BVG8-5:KIFC3; NbExp=5; IntAct=EBI-389534, EBI-14069005;
Q6FHY5:MEOX2; NbExp=3; IntAct=EBI-389534, EBI-16439278;
Q86VP1:TAX1BP1; NbExp=8; IntAct=EBI-389534, EBI-529518;
P70191:Traf5 (xeno); NbExp=2; IntAct=EBI-389534, EBI-523899;
-!- SUBCELLULAR LOCATION: Golgi apparatus membrane
{ECO:0000269|PubMed:11980916}; Peripheral membrane protein
{ECO:0000269|PubMed:11980916}.
-!- DISEASE: Congenital disorder of glycosylation 2E (CDG2E)
[MIM:608779]: 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. {ECO:0000269|PubMed:15107842}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- SIMILARITY: Belongs to the COG7 family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAQ88995.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; BC000549; AAH00549.1; -; mRNA.
EMBL; BC037563; AAH37563.1; -; mRNA.
EMBL; AY358632; AAQ88995.1; ALT_INIT; mRNA.
CCDS; CCDS10610.1; -.
RefSeq; NP_705831.1; NM_153603.3.
UniGene; Hs.185807; -.
ProteinModelPortal; P83436; -.
SMR; P83436; -.
BioGrid; 124896; 46.
CORUM; P83436; -.
IntAct; P83436; 12.
MINT; P83436; -.
STRING; 9606.ENSP00000305442; -.
iPTMnet; P83436; -.
PhosphoSitePlus; P83436; -.
BioMuta; COG7; -.
DMDM; 22653684; -.
EPD; P83436; -.
MaxQB; P83436; -.
PaxDb; P83436; -.
PeptideAtlas; P83436; -.
PRIDE; P83436; -.
ProteomicsDB; 57736; -.
Ensembl; ENST00000307149; ENSP00000305442; ENSG00000168434.
GeneID; 91949; -.
KEGG; hsa:91949; -.
UCSC; uc002dlo.4; human.
CTD; 91949; -.
DisGeNET; 91949; -.
EuPathDB; HostDB:ENSG00000168434.12; -.
GeneCards; COG7; -.
GeneReviews; COG7; -.
H-InvDB; HIX0173261; -.
HGNC; HGNC:18622; COG7.
HPA; HPA040758; -.
HPA; HPA064645; -.
MalaCards; COG7; -.
MIM; 606978; gene.
MIM; 608779; phenotype.
neXtProt; NX_P83436; -.
OpenTargets; ENSG00000168434; -.
Orphanet; 79333; COG7-CDG.
PharmGKB; PA38605; -.
eggNOG; KOG4182; Eukaryota.
eggNOG; ENOG410XT6U; LUCA.
GeneTree; ENSGT00390000001260; -.
HOGENOM; HOG000007766; -.
HOVERGEN; HBG020364; -.
InParanoid; P83436; -.
KO; K20294; -.
OMA; QWATQVF; -.
OrthoDB; EOG091G05X1; -.
PhylomeDB; P83436; -.
TreeFam; TF324498; -.
Reactome; R-HSA-6807878; COPI-mediated anterograde transport.
Reactome; R-HSA-6811438; Intra-Golgi traffic.
Reactome; R-HSA-6811440; Retrograde transport at the Trans-Golgi-Network.
ChiTaRS; COG7; human.
GeneWiki; COG7; -.
GenomeRNAi; 91949; -.
PRO; PR:P83436; -.
Proteomes; UP000005640; Chromosome 16.
Bgee; ENSG00000168434; -.
CleanEx; HS_COG7; -.
ExpressionAtlas; P83436; baseline and differential.
Genevisible; P83436; HS.
GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
GO; GO:0017119; C:Golgi transport complex; IDA:UniProtKB.
GO; GO:0005730; C:nucleolus; IDA:HPA.
GO; GO:0032588; C:trans-Golgi network membrane; TAS:Reactome.
GO; GO:0006888; P:ER to Golgi vesicle-mediated transport; TAS:Reactome.
GO; GO:0007030; P:Golgi organization; IBA:GO_Central.
GO; GO:0006886; P:intracellular protein transport; IMP:UniProtKB.
GO; GO:0006486; P:protein glycosylation; IMP:UniProtKB.
GO; GO:0034067; P:protein localization to Golgi apparatus; IMP:UniProtKB.
GO; GO:0033365; P:protein localization to organelle; IMP:UniProtKB.
GO; GO:0050821; P:protein stabilization; IMP:UniProtKB.
GO; GO:0006890; P:retrograde vesicle-mediated transport, Golgi to ER; IMP:UniProtKB.
InterPro; IPR019335; COG7.
PANTHER; PTHR21443; PTHR21443; 1.
Pfam; PF10191; COG7; 1.
1: Evidence at protein level;
Complete proteome; Congenital disorder of glycosylation;
Golgi apparatus; Membrane; Polymorphism; Protein transport;
Reference proteome; Transport.
CHAIN 1 770 Conserved oligomeric Golgi complex
subunit 7.
/FTId=PRO_0000213518.
VARIANT 605 605 T -> M (in dbSNP:rs16940094).
/FTId=VAR_048762.
SEQUENCE 770 AA; 86344 MW; 14DAC431B291582C CRC64;
MDFSKFLADD FDVKEWINAA FRAGSKEAAS GKADGHAATL VMKLQLFIQE VNHAVEETSH
QALQNMPKVL RDVEALKQEA SFLKEQMILV KEDIKKFEQD TSQSMQVLVE IDQVKSRMQL
AAESLQEADK WSTLSADIEE TFKTQDIAVI SAKLTGMQNS LMMLVDTPDY SEKCVHLEAL
KNRLEALASP QIVAAFTSQA VDQSKVFVKV FTEIDRMPQL LAYYYKCHKV QLLAAWQELC
QSDLSLDRQL TGLYDALLGA WHTQIQWATQ VFQKPHEVVM VLLIQTLGAL MPSLPSCLSN
GVERAGPEQE LTRLLEFYDA TAHFAKGLEM ALLPHLHEHN LVKVTELVDA VYDPYKPYQL
KYGDMEESNL LIQMSAVPLE HGEVIDCVQE LSHSVNKLFG LASAAVDRCV RFTNGLGTCG
LLSALKSLFA KYVSDFTSTL QSIRKKCKLD HIPPNSLFQE DWTAFQNSIR IIATCGELLR
HCGDFEQQLA NRILSTAGKY LSDSCSPRSL AGFQESILTD KKNSAKNPWQ EYNYLQKDNP
AEYASLMEIL YTLKEKGSSN HNLLAAPRAA LTRLNQQAHQ LAFDSVFLRI KQQLLLISKM
DSWNTAGIGE TLTDELPAFS LTPLEYISNI GQYIMSLPLN LEPFVTQEDS ALELALHAGK
LPFPPEQGDE LPELDNMADN WLGSIARATM QTYCDAILQI PELSPHSAKQ LATDIDYLIN
VMDALGLQPS RTLQHIVTLL KTRPEDYRQV SKGLPRRLAT TVATMRSVNY


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