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Conserved oligomeric Golgi complex subunit 6 (COG complex subunit 6) (Component of oligomeric Golgi complex 6)

 COG6_HUMAN              Reviewed;         657 AA.
Q9Y2V7; Q5T0U1; Q6AI19; Q86V49; Q9ULT5;
30-AUG-2002, integrated into UniProtKB/Swiss-Prot.
08-APR-2008, sequence version 2.
12-SEP-2018, entry version 139.
RecName: Full=Conserved oligomeric Golgi complex subunit 6;
Short=COG complex subunit 6;
AltName: Full=Component of oligomeric Golgi complex 6;
Name=COG6; Synonyms=KIAA1134;
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] (ISOFORM 1), AND VARIANTS
THR-10 AND SER-32.
TISSUE=Fetal skin;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057823; DOI=10.1038/nature02379;
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.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
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).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-657 (ISOFORM 2).
TISSUE=Brain;
PubMed=10574461; DOI=10.1093/dnares/6.5.329;
Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
"Characterization of cDNA clones selected by the GeneMark analysis
from size-fractionated cDNA libraries from human brain.";
DNA Res. 6:329-336(1999).
[6]
NUCLEOTIDE SEQUENCE [MRNA] OF 7-657 (ISOFORM 4), AND VARIANTS THR-10
AND SER-32.
TISSUE=Aorta;
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.
[7]
IDENTIFICATION.
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).
[8]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Leukemic T-cell;
PubMed=19690332; DOI=10.1126/scisignal.2000007;
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
Rodionov V., Han D.K.;
"Quantitative phosphoproteomic analysis of T cell receptor signaling
reveals system-wide modulation of protein-protein interactions.";
Sci. Signal. 2:RA46-RA46(2009).
[9]
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).
[10]
INVOLVEMENT IN SHNS.
PubMed=23606727; DOI=10.1136/jmedgenet-2013-101527;
Shaheen R., Ansari S., Alshammari M.J., Alkhalidi H., Alrukban H.,
Eyaid W., Alkuraya F.S.;
"A novel syndrome of hypohidrosis and intellectual disability is
linked to COG6 deficiency.";
J. Med. Genet. 50:431-436(2013).
[11]
VARIANT CDG2L VAL-549.
PubMed=20605848; DOI=10.1093/hmg/ddq278;
Lubbehusen J., Thiel C., Rind N., Ungar D., Prinsen B.H.,
de Koning T.J., van Hasselt P.M., Korner C.;
"Fatal outcome due to deficiency of subunit 6 of the conserved
oligomeric Golgi complex leading to a new type of congenital disorders
of glycosylation.";
Hum. Mol. Genet. 19:3623-3633(2010).
-!- 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:0000250}.
-!- INTERACTION:
Q12774:ARHGEF5; NbExp=4; IntAct=EBI-3866319, EBI-602199;
O95999:BCL10; NbExp=4; IntAct=EBI-3866319, EBI-958922;
Q8TD31-3:CCHCR1; NbExp=4; IntAct=EBI-3866319, EBI-10175300;
Q86YD7:FAM90A1; NbExp=4; IntAct=EBI-3866319, EBI-6658203;
Q9NRW1:RAB6B; NbExp=4; IntAct=EBI-3866319, EBI-1760079;
Q9BWG6:SCNM1; NbExp=4; IntAct=EBI-3866319, EBI-748391;
Q96HA8:WDYHV1; NbExp=4; IntAct=EBI-3866319, EBI-741158;
Q05516:ZBTB16; NbExp=4; IntAct=EBI-3866319, EBI-711925;
-!- SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250};
Peripheral membrane protein {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q9Y2V7-1; Sequence=Displayed;
Name=2;
IsoId=Q9Y2V7-2; Sequence=VSP_001131, VSP_001132;
Note=No experimental confirmation available.;
Name=4;
IsoId=Q9Y2V7-4; Sequence=VSP_040375, VSP_040376;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
-!- DISEASE: 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. {ECO:0000269|PubMed:20605848}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: 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.
{ECO:0000269|PubMed:23606727}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the COG6 family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAD29633.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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Distributed under the Creative Commons Attribution (CC BY 4.0) License
-----------------------------------------------------------------------
EMBL; CR627406; CAH10495.1; -; mRNA.
EMBL; AL512505; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471075; EAX08619.1; -; Genomic_DNA.
EMBL; BC051723; AAH51723.1; -; mRNA.
EMBL; AB032960; BAA86448.1; -; mRNA.
EMBL; AF116827; AAD29633.1; ALT_SEQ; mRNA.
CCDS; CCDS45042.1; -. [Q9Y2V7-2]
CCDS; CCDS9370.1; -. [Q9Y2V7-1]
RefSeq; NP_001138551.1; NM_001145079.1. [Q9Y2V7-2]
RefSeq; NP_065802.1; NM_020751.2. [Q9Y2V7-1]
UniGene; Hs.507805; -.
ProteinModelPortal; Q9Y2V7; -.
SMR; Q9Y2V7; -.
BioGrid; 121575; 70.
CORUM; Q9Y2V7; -.
DIP; DIP-48931N; -.
IntAct; Q9Y2V7; 72.
MINT; Q9Y2V7; -.
STRING; 9606.ENSP00000397441; -.
iPTMnet; Q9Y2V7; -.
PhosphoSitePlus; Q9Y2V7; -.
BioMuta; COG6; -.
DMDM; 182676410; -.
EPD; Q9Y2V7; -.
PaxDb; Q9Y2V7; -.
PeptideAtlas; Q9Y2V7; -.
PRIDE; Q9Y2V7; -.
ProteomicsDB; 85911; -.
ProteomicsDB; 85912; -. [Q9Y2V7-2]
ProteomicsDB; 85913; -. [Q9Y2V7-4]
Ensembl; ENST00000356576; ENSP00000348983; ENSG00000133103. [Q9Y2V7-4]
Ensembl; ENST00000416691; ENSP00000403733; ENSG00000133103. [Q9Y2V7-2]
Ensembl; ENST00000455146; ENSP00000397441; ENSG00000133103. [Q9Y2V7-1]
GeneID; 57511; -.
KEGG; hsa:57511; -.
UCSC; uc001uxh.3; human. [Q9Y2V7-1]
CTD; 57511; -.
DisGeNET; 57511; -.
EuPathDB; HostDB:ENSG00000133103.16; -.
GeneCards; COG6; -.
GeneReviews; COG6; -.
HGNC; HGNC:18621; COG6.
HPA; HPA040410; -.
HPA; HPA040441; -.
MalaCards; COG6; -.
MIM; 606977; gene.
MIM; 614576; phenotype.
MIM; 615328; phenotype.
neXtProt; NX_Q9Y2V7; -.
OpenTargets; ENSG00000133103; -.
Orphanet; 363523; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.
PharmGKB; PA38604; -.
eggNOG; KOG3758; Eukaryota.
eggNOG; ENOG410Y72M; LUCA.
GeneTree; ENSGT00390000013518; -.
HOGENOM; HOG000019899; -.
HOVERGEN; HBG025711; -.
InParanoid; Q9Y2V7; -.
KO; K20293; -.
OMA; FYHHTIS; -.
OrthoDB; EOG091G03P0; -.
PhylomeDB; Q9Y2V7; -.
TreeFam; TF314527; -.
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; COG6; human.
GenomeRNAi; 57511; -.
PRO; PR:Q9Y2V7; -.
Proteomes; UP000005640; Chromosome 13.
Bgee; ENSG00000133103; Expressed in 206 organ(s), highest expression level in tibia.
CleanEx; HS_COG6; -.
ExpressionAtlas; Q9Y2V7; baseline and differential.
Genevisible; Q9Y2V7; HS.
GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
GO; GO:0017119; C:Golgi transport complex; IDA:UniProtKB.
GO; GO:0032588; C:trans-Golgi network membrane; TAS:Reactome.
GO; GO:0006888; P:ER to Golgi vesicle-mediated transport; TAS:Reactome.
GO; GO:0070085; P:glycosylation; IMP:UniProtKB.
GO; GO:0006891; P:intra-Golgi vesicle-mediated transport; IBA:GO_Central.
GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
InterPro; IPR010490; COG6.
PANTHER; PTHR21506; PTHR21506; 1.
Pfam; PF06419; COG6; 1.
SMART; SM01087; COG6; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome;
Congenital disorder of glycosylation; Disease mutation;
Golgi apparatus; Membrane; Mental retardation; Polymorphism;
Protein transport; Reference proteome; Transport.
CHAIN 1 657 Conserved oligomeric Golgi complex
subunit 6.
/FTId=PRO_0000213513.
VAR_SEQ 53 75 MLEALKALSTFFVENSLRTRRNL -> LGILLLSFSWLLFE
DSVRDSRRC (in isoform 4).
{ECO:0000303|Ref.6}.
/FTId=VSP_040375.
VAR_SEQ 76 657 Missing (in isoform 4).
{ECO:0000303|Ref.6}.
/FTId=VSP_040376.
VAR_SEQ 610 615 EQIVKQ -> RPPNGP (in isoform 2).
{ECO:0000303|PubMed:10574461}.
/FTId=VSP_001131.
VAR_SEQ 616 657 Missing (in isoform 2).
{ECO:0000303|PubMed:10574461}.
/FTId=VSP_001132.
VARIANT 10 10 A -> T (in dbSNP:rs3812882).
{ECO:0000269|PubMed:17974005,
ECO:0000269|Ref.6}.
/FTId=VAR_048759.
VARIANT 32 32 C -> S (in dbSNP:rs3812883).
{ECO:0000269|PubMed:17974005,
ECO:0000269|Ref.6}.
/FTId=VAR_048760.
VARIANT 300 300 H -> Y (in dbSNP:rs34555836).
/FTId=VAR_048761.
VARIANT 447 447 M -> T (in dbSNP:rs41286961).
/FTId=VAR_061110.
VARIANT 549 549 G -> V (in CDG2L; dbSNP:rs387906959).
{ECO:0000269|PubMed:20605848}.
/FTId=VAR_068240.
CONFLICT 158 158 S -> F (in Ref. 2; CAH10495).
{ECO:0000305}.
CONFLICT 379 379 N -> S (in Ref. 2; CAH10495).
{ECO:0000305}.
SEQUENCE 657 AA; 73279 MW; 0F29785E722B5185 CRC64;
MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND KEMLEALKAL
STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE LESISEDVQA MSNCCQDMTS
RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA QVADAFLSKF QLTSDEMSLL RGTREGPITE
DFFKALGRVK QIHNDVKVLL RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE
SCDVSPVLTQ AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH
SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT EGVCRPLKVR
IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL TTIEEMHLLS KKIFFNSLSL
HASKLMDKVE LPPPDLGPSS ALNQTLMLLR EVLASHDSSV VPLDARQADF VQVLSCVLDP
LLQMCTVSAS NLGTADMATF MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ
ASYVLTRVGL SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL
NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ QVQTLLS


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