Q9UP83 (COG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	COG5
Synonyms:	GOLTC1, GTC90

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	839 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytosol. 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.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cytoplasm Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital disorder of glycosylation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	intra-Golgi vesicle-mediated transport Non-traceable author statement Ref.1. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell Golgi transport complex Inferred from direct assay PubMed 15047703. Source: UniProtKB cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
COG4	Q9H9E3	2	EBI-389502,EBI-368382
COG7	P83436	2	EBI-389502,EBI-389534

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 839	839	Conserved oligomeric Golgi complex subunit 5		PRO_0000213510
Amino acid modifications
	Modified residue	197	1	Phosphoserine Ref.6 Ref.7
Natural variations
	Alternative sequence	593	1	K → KVVSSQSSFPLAAEQTIISA LK in isoform 2 and isoform 3.		VSP_031610
	Alternative sequence	803 – 839	37	Missing in isoform 3.		VSP_031611
	Natural variant	330	1	F → L. Ref.1 Ref.5 Corresponds to variant rs2269970 [ dbSNP | Ensembl ].		VAR_039142
	Natural variant	365	1	I → V. Corresponds to variant rs34087251 [ dbSNP | Ensembl ].		VAR_039182
	Natural variant	452	1	H → R. Corresponds to variant rs35393416 [ dbSNP | Ensembl ].		VAR_055664
	Natural variant	558	1	S → P. Ref.1		VAR_039143
Experimental info
	Sequence conflict	112	1	A → V in AAC69276. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 95BD2E254A0C3FF7	FASTA	839	92,743
	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
	Isoform 2 [UniParc]. Checksum: CE98BD7F82CB7D82	FASTA	860	94,901
	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 VTKVVSSQSS 610 620 630 640 650 660 FPLAAEQTII SALKAIHALM ENAVQPLLTS VGDAIEAIII TMHQEDFSGS LSSSGKPDVP 670 680 690 700 710 720 CSLYMKELQG FIARVMSDYF KHFECLDFVF DNTEAIAQRA VELFIRHASL IRPLGEGGKM 730 740 750 760 770 780 RLAADFAQME LAVGPFCRRV SDLGKSYRML RSFRPLLFQA SEHVASSPAL GDVIPFSIII 790 800 810 820 830 840 QFLFTRAPAE LKSPFQRAEW SHTRFSQWLD DHPSEKDRLL LIRGALEAYV QSVRSREGKE 850 860 FAPVYPIMVQ LLQKAMSALQ
	Isoform 3 [UniParc]. Checksum: 6E8DA2EC605D40D3	FASTA	823	90,810
	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 VTKVVSSQSS 610 620 630 640 650 660 FPLAAEQTII SALKAIHALM ENAVQPLLTS VGDAIEAIII TMHQEDFSGS LSSSGKPDVP 670 680 690 700 710 720 CSLYMKELQG FIARVMSDYF KHFECLDFVF DNTEAIAQRA VELFIRHASL IRPLGEGGKM 730 740 750 760 770 780 RLAADFAQME LAVGPFCRRV SDLGKSYRML RSFRPLLFQA SEHVASSPAL GDVIPFSIII 790 800 810 820 QFLFTRAPAE LKSPFQRAEW SHTRFSQWLD DHPSEKDRLL LIR

References

	« Hide 'large scale' referencesShow '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. , 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]	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 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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].
+	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.
IPI	IPI00007347. IPI00377050. IPI00885051.
RefSeq	NP_001154992.1. NM_001161520.1. NP_006339.3. NM_006348.3. NP_859422.2. NM_181733.2.
UniGene	Hs.239631.
3D structure databases
ProteinModelPortal	Q9UP83.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UP83. 11 interactions.
STRING	9606.ENSP00000297135.
PTM databases
PhosphoSite	Q9UP83.
Polymorphism databases
DMDM	296439390.
Proteomic databases
PaxDb	Q9UP83.
PRIDE	Q9UP83.
Protocols and materials databases
DNASU	10466.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297135; ENSP00000297135; ENSG00000164597. ENST00000347053; ENSP00000334703; ENSG00000164597. ENST00000393603; ENSP00000377228; ENSG00000164597.
GeneID	10466.
KEGG	hsa:10466.
UCSC	uc003vec.2. human. uc003ved.2. human. uc003vee.2. human.
Organism-specific databases
CTD	10466.
GeneCards	GC07M106842.
HGNC	HGNC:14857. COG5.
HPA	HPA020300.
MIM	606821. gene. 613612. phenotype.
neXtProt	NX_Q9UP83.
Orphanet	263487. CDG syndrome type IIi.
PharmGKB	PA26698.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG298306.
HOGENOM	HOG000170357.
HOVERGEN	HBG051063.
OMA	ALQVFYN.
OrthoDB	EOG4WDDB5.
Gene expression databases
ArrayExpress	Q9UP83.
Bgee	Q9UP83.
CleanEx	HS_COG5.
Genevestigator	Q9UP83.
GermOnline	ENSG00000164597. Homo sapiens.
Family and domain databases
InterPro	IPR019465. Cog5. [Graphical view]
PANTHER	PTHR13228. PTHR13228. 1 hit.
Pfam	PF10392. COG5. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10466.
NextBio	39689.
SOURCE	Search...

Entry information

Entry name

COG5_HUMAN

Accession

Primary (citable) accession number: Q9UP83
Secondary accession number(s): A4D0R6 , A4D0R7, O14555, O95008, Q6NUL5

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2002
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 97 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.