COG8_HUMAN
ID COG8_HUMAN Reviewed; 612 AA.
AC Q96MW5; Q0VAK2; Q8WVV6; Q9H6F8;
DT 30-AUG-2002, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Conserved oligomeric Golgi complex subunit 8;
DE Short=COG complex subunit 8;
DE AltName: Full=Component of oligomeric Golgi complex 8;
GN Name=COG8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP SUBCELLULAR LOCATION.
RX PubMed=11703943; DOI=10.1016/s1534-5807(01)00063-6;
RA Whyte J.R., Munro S.;
RT "The Sec34/35 Golgi transport complex is related to the exocyst, defining a
RT family of complexes involved in multiple steps of membrane traffic.";
RL Dev. Cell 1:527-537(2001).
RN [5]
RP INVOLVEMENT IN CDG2H.
RX PubMed=17331980; DOI=10.1093/hmg/ddm028;
RA Kranz C., Ng B.G., Sun L., Sharma V., Eklund E.A., Miura Y., Ungar D.,
RA Lupashin V., Winkel R.D., Cipollo J.F., Costello C.E., Loh E., Hong W.,
RA Freeze H.H.;
RT "COG8 deficiency causes new congenital disorder of glycosylation type
RT IIh.";
RL Hum. Mol. Genet. 16:731-741(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Required for normal Golgi function. {ECO:0000250}.
CC -!- SUBUNIT: Component of the conserved oligomeric Golgi complex which is
CC composed of eight different subunits and is required for normal Golgi
CC morphology and localization.
CC -!- INTERACTION:
CC Q96MW5; P46379-2: BAG6; NbExp=3; IntAct=EBI-720875, EBI-10988864;
CC Q96MW5; P55040: GEM; NbExp=3; IntAct=EBI-720875, EBI-744104;
CC Q96MW5; A0A0S2Z4Q4: HGS; NbExp=3; IntAct=EBI-720875, EBI-16429135;
CC Q96MW5; O14964: HGS; NbExp=3; IntAct=EBI-720875, EBI-740220;
CC Q96MW5; P42858: HTT; NbExp=12; IntAct=EBI-720875, EBI-466029;
CC Q96MW5; O60333-2: KIF1B; NbExp=3; IntAct=EBI-720875, EBI-10975473;
CC Q96MW5; O14901: KLF11; NbExp=3; IntAct=EBI-720875, EBI-948266;
CC Q96MW5; Q9P2K5-2: MYEF2; NbExp=3; IntAct=EBI-720875, EBI-10318831;
CC Q96MW5; P28331-2: NDUFS1; NbExp=3; IntAct=EBI-720875, EBI-6190702;
CC Q96MW5; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-720875, EBI-2811583;
CC Q96MW5; P02766: TTR; NbExp=3; IntAct=EBI-720875, EBI-711909;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC {ECO:0000269|PubMed:11703943}; Peripheral membrane protein
CC {ECO:0000269|PubMed:11703943}.
CC -!- DISEASE: Congenital disorder of glycosylation 2H (CDG2H) [MIM:611182]:
CC CDGs are a family of severe inherited diseases caused by a defect in
CC protein N-glycosylation. They are characterized by under-glycosylated
CC serum proteins. These multisystem disorders present with a wide variety
CC of clinical features, such as disorders of the nervous system
CC development, psychomotor retardation, dysmorphic features, hypotonia,
CC coagulation disorders, and immunodeficiency. The broad spectrum of
CC features reflects the critical role of N-glycoproteins during embryonic
CC development, differentiation, and maintenance of cell functions.
CC {ECO:0000269|PubMed:17331980}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the COG8 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH17492.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB15301.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK056344; BAB71157.1; -; mRNA.
DR EMBL; AK025968; BAB15301.1; ALT_FRAME; mRNA.
DR EMBL; CH471092; EAW83266.1; -; Genomic_DNA.
DR EMBL; BC017492; AAH17492.1; ALT_INIT; mRNA.
DR EMBL; BC121022; AAI21023.1; -; mRNA.
DR EMBL; BC121023; AAI21024.1; -; mRNA.
DR CCDS; CCDS10876.1; -.
DR RefSeq; NP_115758.3; NM_032382.4.
DR AlphaFoldDB; Q96MW5; -.
DR SMR; Q96MW5; -.
DR BioGRID; 124063; 47.
DR ComplexPortal; CPX-6199; COG tethering complex.
DR CORUM; Q96MW5; -.
DR IntAct; Q96MW5; 37.
DR MINT; Q96MW5; -.
DR STRING; 9606.ENSP00000305459; -.
DR ChEMBL; CHEMBL4105880; -.
DR iPTMnet; Q96MW5; -.
DR PhosphoSitePlus; Q96MW5; -.
DR BioMuta; COG8; -.
DR DMDM; 215273958; -.
DR EPD; Q96MW5; -.
DR jPOST; Q96MW5; -.
DR MassIVE; Q96MW5; -.
DR MaxQB; Q96MW5; -.
DR PaxDb; Q96MW5; -.
DR PeptideAtlas; Q96MW5; -.
DR PRIDE; Q96MW5; -.
DR ProteomicsDB; 77424; -.
DR Antibodypedia; 29849; 88 antibodies from 22 providers.
DR DNASU; 84342; -.
DR Ensembl; ENST00000306875.10; ENSP00000305459.6; ENSG00000213380.16.
DR GeneID; 84342; -.
DR KEGG; hsa:84342; -.
DR MANE-Select; ENST00000306875.10; ENSP00000305459.6; NM_032382.5; NP_115758.3.
DR UCSC; uc002ewy.3; human.
DR CTD; 84342; -.
DR DisGeNET; 84342; -.
DR GeneCards; COG8; -.
DR GeneReviews; COG8; -.
DR HGNC; HGNC:18623; COG8.
DR HPA; ENSG00000213380; Low tissue specificity.
DR MalaCards; COG8; -.
DR MIM; 606979; gene.
DR MIM; 611182; phenotype.
DR neXtProt; NX_Q96MW5; -.
DR OpenTargets; ENSG00000213380; -.
DR Orphanet; 95428; COG8-CDG.
DR PharmGKB; PA38606; -.
DR VEuPathDB; HostDB:ENSG00000213380; -.
DR eggNOG; KOG2069; Eukaryota.
DR GeneTree; ENSGT00390000015893; -.
DR InParanoid; Q96MW5; -.
DR OMA; QRCIHGV; -.
DR OrthoDB; 1531483at2759; -.
DR PhylomeDB; Q96MW5; -.
DR TreeFam; TF315000; -.
DR PathwayCommons; Q96MW5; -.
DR Reactome; R-HSA-6807878; COPI-mediated anterograde transport.
DR Reactome; R-HSA-6811438; Intra-Golgi traffic.
DR Reactome; R-HSA-6811440; Retrograde transport at the Trans-Golgi-Network.
DR SignaLink; Q96MW5; -.
DR BioGRID-ORCS; 84342; 313 hits in 1082 CRISPR screens.
DR ChiTaRS; COG8; human.
DR GeneWiki; COG8; -.
DR GenomeRNAi; 84342; -.
DR Pharos; Q96MW5; Tbio.
DR PRO; PR:Q96MW5; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q96MW5; protein.
DR Bgee; ENSG00000213380; Expressed in upper arm skin and 170 other tissues.
DR ExpressionAtlas; Q96MW5; baseline and differential.
DR Genevisible; Q96MW5; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
DR GO; GO:0017119; C:Golgi transport complex; IDA:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0032588; C:trans-Golgi network membrane; TAS:Reactome.
DR GO; GO:0070085; P:glycosylation; IMP:ComplexPortal.
DR GO; GO:0007030; P:Golgi organization; IMP:ComplexPortal.
DR GO; GO:0006891; P:intra-Golgi vesicle-mediated transport; IBA:GO_Central.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0000301; P:retrograde transport, vesicle recycling within Golgi; IMP:ComplexPortal.
DR InterPro; IPR007255; COG8.
DR InterPro; IPR016632; COG8_Metazoal_Plant.
DR InterPro; IPR016159; Cullin_repeat-like_dom_sf.
DR PANTHER; PTHR21311; PTHR21311; 1.
DR Pfam; PF04124; Dor1; 1.
DR PIRSF; PIRSF015415; COG8; 1.
DR SUPFAM; SSF74788; SSF74788; 1.
PE 1: Evidence at protein level;
KW Congenital disorder of glycosylation; Golgi apparatus; Membrane;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..612
FT /note="Conserved oligomeric Golgi complex subunit 8"
FT /id="PRO_0000213521"
FT REGION 568..612
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 575..589
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 517
FT /note="L -> R (in dbSNP:rs3027)"
FT /id="VAR_047655"
FT CONFLICT 348
FT /note="Q -> R (in Ref. 1; BAB71157)"
FT /evidence="ECO:0000305"
FT CONFLICT 399
FT /note="L -> H (in Ref. 1; BAB15301)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 612 AA; 68424 MW; 2780349A5B037E55 CRC64;
MATAATIPSV ATATAAALGE VEDEGLLASL FRDRFPEAQW RERPDVGRYL RELSGSGLER
LRREPERLAE ERAQLLQQTR DLAFANYKTF IRGAECTERI HRLFGDVEAS LGRLLDRLPS
FQQSCRNFVK EAEEISSNRR MNSLTLNRHT EILEILEIPQ LMDTCVRNSY YEEALELAAY
VRRLERKYSS IPVIQGIVNE VRQSMQLMLS QLIQQLRTNI QLPACLRVIG YLRRMDVFTE
AELRVKFLQA RDAWLRSILT AIPNDDPYFH ITKTIEASRV HLFDIITQYR AIFSDEDPLL
PPAMGEHTVN ESAIFHGWVL QKVSQFLQVL ETDLYRGIGG HLDSLLGQCM YFGLSFSRVG
ADFRGQLAPV FQRVAISTFQ KAIQETVEKF QEEMNSYMLI SAPAILGTSN MPAAVPATQP
GTLQPPMVLL DFPPLACFLN NILVAFNDLR LCCPVALAQD VTGALEDALA KVTKIILAFH
RAEEAAFSSG EQELFVQFCT VFLEDLVPYL NRCLQVLFPP AQIAQTLGIP PTQLSKYGNL
GHVNIGAIQE PLAFILPKRE TLFTLDDQAL GPELTAPAPE PPAEEPRLEP AGPACPEGGR
AETQAEPPSV GP
