Q9Y2V7 (COG6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Conserved oligomeric Golgi complex subunit 6
Short name=COG complex subunit 6

Alternative name(s):
Component of oligomeric Golgi complex 6

Gene names

Name:	COG6
Synonyms:	KIAA1134

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	657 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	Golgi apparatus membrane; Peripheral membrane protein By similarity.
Involvement in 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11
Sequence similarities	Belongs to the COG6 family.
Sequence caution	The sequence AAD29633.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital disorder of glycosylation Disease mutation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycosylation Inferred from mutant phenotype Ref.11. Source: UniProtKB intra-Golgi vesicle-mediated transport Inferred from electronic annotation. Source: InterPro 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
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y2V7-1)

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: Q9Y2V7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     610-615: EQIVKQ → RPPNGP
     616-657: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9Y2V7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     53-75: MLEALKALSTFFVENSLRTRRNL → LGILLLSFSWLLFEDSVRDSRRC
     76-657: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 657	657	Conserved oligomeric Golgi complex subunit 6		PRO_0000213513
Amino acid modifications
	Modified residue	28	1	Phosphoserine Ref.8
	Modified residue	31	1	Phosphothreonine Ref.8
	Modified residue	276	1	Phosphothreonine Ref.10
Natural variations
	Alternative sequence	53 – 75	23	MLEAL…TRRNL → LGILLLSFSWLLFEDSVRDS RRC in isoform 4.		VSP_040375
	Alternative sequence	76 – 657	582	Missing in isoform 4.		VSP_040376
	Alternative sequence	610 – 615	6	EQIVKQ → RPPNGP in isoform 2.		VSP_001131
	Alternative sequence	616 – 657	42	Missing in isoform 2.		VSP_001132
	Natural variant	10	1	A → T. Ref.1 Ref.6 Corresponds to variant rs3812882 [ dbSNP | Ensembl ].		VAR_048759
	Natural variant	32	1	C → S. Ref.1 Ref.6 Corresponds to variant rs3812883 [ dbSNP | Ensembl ].		VAR_048760
	Natural variant	300	1	H → Y. Corresponds to variant rs34555836 [ dbSNP | Ensembl ].		VAR_048761
	Natural variant	447	1	M → T. Corresponds to variant rs41286961 [ dbSNP | Ensembl ].		VAR_061110
	Natural variant	549	1	G → V in CDG2L. Ref.11		VAR_068240
Experimental info
	Sequence conflict	158	1	S → F in CAH10495. Ref.2
	Sequence conflict	379	1	N → S in CAH10495. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 8, 2008. Version 2. Checksum: 0F29785E722B5185	FASTA	657	73,279
	10 20 30 40 50 60 MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND KEMLEALKAL 70 80 90 100 110 120 STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE LESISEDVQA MSNCCQDMTS 130 140 150 160 170 180 RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA QVADAFLSKF QLTSDEMSLL RGTREGPITE 190 200 210 220 230 240 DFFKALGRVK QIHNDVKVLL RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE 250 260 270 280 290 300 SCDVSPVLTQ AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH 310 320 330 340 350 360 SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT EGVCRPLKVR 370 380 390 400 410 420 IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL TTIEEMHLLS KKIFFNSLSL 430 440 450 460 470 480 HASKLMDKVE LPPPDLGPSS ALNQTLMLLR EVLASHDSSV VPLDARQADF VQVLSCVLDP 490 500 510 520 530 540 LLQMCTVSAS NLGTADMATF MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ 550 560 570 580 590 600 ASYVLTRVGL SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL 610 620 630 640 650 NFLLSATVKE QIVKQSTELV CRAYGEVYAA VMNPINEYKD PENILHRSPQ QVQTLLS
	Isoform 2 [UniParc]. Checksum: 5329CF6140B57331	FASTA	615	68,411
	10 20 30 40 50 60 MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND KEMLEALKAL 70 80 90 100 110 120 STFFVENSLR TRRNLRGDIE RKSLAINEEF VSIFKEVKEE LESISEDVQA MSNCCQDMTS 130 140 150 160 170 180 RLQAAKEQTQ DLIVKTTKLQ SESQKLEIRA QVADAFLSKF QLTSDEMSLL RGTREGPITE 190 200 210 220 230 240 DFFKALGRVK QIHNDVKVLL RTNQQTAGLE IMEQMALLQE TAYERLYRWA QSECRTLTQE 250 260 270 280 290 300 SCDVSPVLTQ AMEALQDRPV LYKYTLDEFG TARRSTVVRG FIDALTRGGP GGTPRPIEMH 310 320 330 340 350 360 SHDPLRYVGD MLAWLHQATA SEKEHLEALL KHVTTQGVEE NIQEVVGHIT EGVCRPLKVR 370 380 390 400 410 420 IEQVIVAEPG AVLLYKISNL LKFYHHTISG IVGNSATALL TTIEEMHLLS KKIFFNSLSL 430 440 450 460 470 480 HASKLMDKVE LPPPDLGPSS ALNQTLMLLR EVLASHDSSV VPLDARQADF VQVLSCVLDP 490 500 510 520 530 540 LLQMCTVSAS NLGTADMATF MVNSLYMMKT TLALFEFTDR RLEMLQFQIE AHLDTLINEQ 550 560 570 580 590 600 ASYVLTRVGL SYIYNTVQQH KPEQGSLANM PNLDSVTLKA AMVQFDRYLS APDNLLIPQL 610 NFLLSATVKR PPNGP
	Isoform 4 [UniParc]. Checksum: 42D1F36A3CDA1016	FASTA	75	7,936
	10 20 30 40 50 60 MAEGSGEVVA VSATGAANGL NNGAGGTSAT TCNPLSRKLH KILETRLDND KELGILLLSF 70 SWLLFEDSVR DSRRC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The full-ORF clone resource of the German cDNA consortium." 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. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-10 AND SER-32. Tissue: Fetal skin.
[2]	"The DNA sequence and analysis of human chromosome 13." 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. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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].
[4]	"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 1). Tissue: Brain.
[5]	"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-657 (ISOFORM 2). Tissue: Brain.
[6]	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 Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-657 (ISOFORM 4), VARIANTS THR-10 AND SER-32. Tissue: Aorta.
[7]	"Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function." Ungar D., Oka T., Brittle E.E., Vasile E., Lupashin V.V., Chatterton J.E., Heuser J.E., Krieger M., Waters M.G. J. Cell Biol. 157:405-415(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-28 AND THR-31, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[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]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-276, MASS SPECTROMETRY.
[11]	"Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation." Lubbehusen J., Thiel C., Rind N., Ungar D., Prinsen B.H., de Koning T.J., van Hasselt P.M., Korner C. Hum. Mol. Genet. 19:3623-3633(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CDG2L VAL-549.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	CR627406 mRNA. Translation: CAH10495.1. AL512505 Genomic DNA. Translation: CAI16937.1. AL512505 Genomic DNA. Translation: CAM23735.1. CH471075 Genomic DNA. Translation: EAX08619.1. BC051723 mRNA. Translation: AAH51723.1. AB032960 mRNA. Translation: BAA86448.1. AF116827 mRNA. Translation: AAD29633.1. Sequence problems.
IPI	IPI00398963. IPI00940437. IPI00973581.
RefSeq	NP_001138551.1. NM_001145079.1. NP_065802.1. NM_020751.2.
UniGene	Hs.507805.
3D structure databases
ProteinModelPortal	Q9Y2V7.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48931N.
IntAct	Q9Y2V7. 1 interaction.
STRING	9606.ENSP00000397441.
PTM databases
PhosphoSite	Q9Y2V7.
Polymorphism databases
DMDM	182676410.
Proteomic databases
PaxDb	Q9Y2V7.
PRIDE	Q9Y2V7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356576; ENSP00000348983; ENSG00000133103. ENST00000416691; ENSP00000403733; ENSG00000133103. ENST00000455146; ENSP00000397441; ENSG00000133103.
GeneID	57511.
KEGG	hsa:57511.
UCSC	uc001uxh.2. human. uc010acb.2. human.
Organism-specific databases
CTD	57511.
GeneCards	GC13P040229.
HGNC	HGNC:18621. COG6.
HPA	HPA040410. HPA040441.
MIM	606977. gene. 614576. phenotype.
neXtProt	NX_Q9Y2V7.
PharmGKB	PA38604.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG291168.
HOGENOM	HOG000019899.
HOVERGEN	HBG025711.
InParanoid	Q9Y2V7.
PhylomeDB	Q9Y2V7.
Gene expression databases
ArrayExpress	Q9Y2V7.
Bgee	Q9Y2V7.
CleanEx	HS_COG6.
Genevestigator	Q9Y2V7.
GermOnline	ENSG00000133103. Homo sapiens.
Family and domain databases
InterPro	IPR010490. COG6. [Graphical view]
PANTHER	PTHR21506. PTHR21506. 1 hit.
Pfam	PF06419. COG6. 1 hit. [Graphical view]
SMART	SM01087. COG6. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57511.
NextBio	63870.
SOURCE	Search...

Entry information

Entry name

COG6_HUMAN

Accession

Primary (citable) accession number: Q9Y2V7
Secondary accession number(s): Q5T0U1 , Q6AI19, Q86V49, Q9ULT5

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 30, 2002
Last sequence update:	April 8, 2008
Last modified:	May 1, 2013
This is version 95 of the entry and version 2 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.