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Protein

Conserved oligomeric Golgi complex subunit 1

Gene

COG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for normal Golgi function.By similarity

GO - Biological processi

  • ER to Golgi vesicle-mediated transport Source: Reactome
  • Golgi organization Source: UniProtKB
  • intra-Golgi vesicle-mediated transport Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • retrograde transport, vesicle recycling within Golgi Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811438. Intra-Golgi traffic.
R-HSA-6811440. Retrograde transport at the Trans-Golgi-Network.

Names & Taxonomyi

Protein namesi
Recommended name:
Conserved oligomeric Golgi complex subunit 1
Short name:
COG complex subunit 1
Alternative name(s):
Component of oligomeric Golgi complex 1
Gene namesi
Name:COG1
Synonyms:KIAA1381, LDLB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:6545. COG1.

Subcellular locationi

GO - Cellular componenti

  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: Reactome
  • Golgi transport complex Source: UniProtKB
  • trans-Golgi network membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2G (CDG2G)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation.
See also OMIM:611209

Keywords - Diseasei

Congenital disorder of glycosylation

Organism-specific databases

MalaCardsiCOG1.
MIMi611209. phenotype.
Orphaneti263508. COG1-CDG.
PharmGKBiPA26696.

Polymorphism and mutation databases

BioMutaiCOG1.
DMDMi22653695.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 980979Conserved oligomeric Golgi complex subunit 1PRO_0000213491Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei7 – 71PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8WTW3.
MaxQBiQ8WTW3.
PaxDbiQ8WTW3.
PeptideAtlasiQ8WTW3.
PRIDEiQ8WTW3.

PTM databases

iPTMnetiQ8WTW3.
PhosphoSiteiQ8WTW3.

Expressioni

Gene expression databases

BgeeiENSG00000166685.
CleanExiHS_COG1.
ExpressionAtlasiQ8WTW3. baseline and differential.
GenevisibleiQ8WTW3. HS.

Organism-specific databases

HPAiHPA029224.

Interactioni

Subunit structurei

Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
COG4Q9H9E32EBI-368371,EBI-368382

Protein-protein interaction databases

BioGridi114783. 24 interactions.
IntActiQ8WTW3. 7 interactions.
STRINGi9606.ENSP00000299886.

Structurei

3D structure databases

ProteinModelPortaliQ8WTW3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COG1 family.Curated

Phylogenomic databases

eggNOGiKOG2033. Eukaryota.
ENOG410XR7E. LUCA.
GeneTreeiENSGT00390000017136.
HOGENOMiHOG000231051.
HOVERGENiHBG031402.
InParanoidiQ8WTW3.
KOiK20288.
OMAiLMYVKSM.
OrthoDBiEOG091G02C8.
PhylomeDBiQ8WTW3.
TreeFamiTF314678.

Family and domain databases

InterProiIPR033370. COG1.
[Graphical view]
PANTHERiPTHR31658. PTHR31658. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8WTW3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATAATSPAL KRLDLRDPAA LFETHGAEEI RGLERQVRAE IEHKKEELRQ
60 70 80 90 100
MVGERYRDLI EAADTIGQMR RCAVGLVDAV KATDQYCARL RQAGSAAPRP
110 120 130 140 150
PRAQQPQQPS QEKFYSMAAQ IKLLLEIPEK IWSSMEASQC LHATQLYLLC
160 170 180 190 200
CHLHSLLQLD SSSSRYSPVL SRFPILIRQV AAASHFRSTI LHESKMLLKC
210 220 230 240 250
QGVSDQAVAE ALCSIMLLEE SSPRQALTDF LLARKATIQK LLNQPHHGAG
260 270 280 290 300
IKAQICSLVE LLATTLKQAH ALFYTLPEGL LPDPALPCGL LFSTLETITG
310 320 330 340 350
QHPAGKGTGV LQEEMKLCSW FKHLPASIVE FQPTLRTLAH PISQEYLKDT
360 370 380 390 400
LQKWIHMCNE DIKNGITNLL MYVKSMKGLA GIRDAMWELL TNESTNHSWD
410 420 430 440 450
VLCRRLLEKP LLFWEDMMQQ LFLDRLQTLT KEGFDSISSS SKELLVSALQ
460 470 480 490 500
ELESSTSNSP SNKHIHFEYN MSLFLWSESP NDLPSDAAWV SVANRGQFAS
510 520 530 540 550
SGLSMKAQAI SPCVQNFCSA LDSKLKVKLD DLLAYLPSDD SSLPKDVSPT
560 570 580 590 600
QAKSSAFDRY ADAGTVQEML RTQSVACIKH IVDCIRAELQ SIEEGVQGQQ
610 620 630 640 650
DALNSAKLHS VLFMARLCQS LGELCPHLKQ CILGKSESSE KPAREFRALR
660 670 680 690 700
KQGKVKTQEI IPTQAKWQEV KEVLLQQSVM GYQVWSSAVV KVLIHGFTQS
710 720 730 740 750
LLLDDAGSVL ATATSWDELE IQEEAESGSS VTSKIRLPAQ PSWYVQSFLF
760 770 780 790 800
SLCQEINRVG GHALPKVTLQ EMLKSCMVQV VAAYEKLSEE KQIKKEGAFP
810 820 830 840 850
VTQNRALQLL YDLRYLNIVL TAKGDEVKSG RSKPDSRIEK VTDHLEALID
860 870 880 890 900
PFDLDVFTPH LNSNLHRLVQ RTSVLFGLVT GTENQLAPRS STFNSQEPHN
910 920 930 940 950
ILPLASSQIR FGLLPLSMTS TRKAKSTRNI ETKAQVVPPA RSTAGDPTVP
960 970 980
GSLFRQLVSE EDNTSAPSLF KLGWLSSMTK
Length:980
Mass (Da):108,978
Last modified:March 1, 2002 - v1
Checksum:i68C066504260E36E
GO

Sequence cautioni

The sequence BAA92619 differs from that shown. Reason: Frameshift at position 937. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti357 – 3571M → L.
Corresponds to variant rs4375725 [ dbSNP | Ensembl ].
VAR_059231
Natural varianti392 – 3921N → S.
Corresponds to variant rs1026128 [ dbSNP | Ensembl ].
VAR_020415
Natural varianti744 – 7441Y → C.
Corresponds to variant rs7208207 [ dbSNP | Ensembl ].
VAR_048756

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC021985 mRNA. Translation: AAH21985.1.
AB037802 mRNA. Translation: BAA92619.1. Frameshift.
AL359611 mRNA. Translation: CAB94881.1.
CCDSiCCDS11692.1.
PIRiT50629.
RefSeqiNP_061184.1. NM_018714.2.
UniGeneiHs.103555.

Genome annotation databases

EnsembliENST00000299886; ENSP00000299886; ENSG00000166685.
GeneIDi9382.
KEGGihsa:9382.
UCSCiuc002jjg.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC021985 mRNA. Translation: AAH21985.1.
AB037802 mRNA. Translation: BAA92619.1. Frameshift.
AL359611 mRNA. Translation: CAB94881.1.
CCDSiCCDS11692.1.
PIRiT50629.
RefSeqiNP_061184.1. NM_018714.2.
UniGeneiHs.103555.

3D structure databases

ProteinModelPortaliQ8WTW3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114783. 24 interactions.
IntActiQ8WTW3. 7 interactions.
STRINGi9606.ENSP00000299886.

PTM databases

iPTMnetiQ8WTW3.
PhosphoSiteiQ8WTW3.

Polymorphism and mutation databases

BioMutaiCOG1.
DMDMi22653695.

Proteomic databases

EPDiQ8WTW3.
MaxQBiQ8WTW3.
PaxDbiQ8WTW3.
PeptideAtlasiQ8WTW3.
PRIDEiQ8WTW3.

Protocols and materials databases

DNASUi9382.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299886; ENSP00000299886; ENSG00000166685.
GeneIDi9382.
KEGGihsa:9382.
UCSCiuc002jjg.4. human.

Organism-specific databases

CTDi9382.
GeneCardsiCOG1.
GeneReviewsiCOG1.
HGNCiHGNC:6545. COG1.
HPAiHPA029224.
MalaCardsiCOG1.
MIMi606973. gene.
611209. phenotype.
neXtProtiNX_Q8WTW3.
Orphaneti263508. COG1-CDG.
PharmGKBiPA26696.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2033. Eukaryota.
ENOG410XR7E. LUCA.
GeneTreeiENSGT00390000017136.
HOGENOMiHOG000231051.
HOVERGENiHBG031402.
InParanoidiQ8WTW3.
KOiK20288.
OMAiLMYVKSM.
OrthoDBiEOG091G02C8.
PhylomeDBiQ8WTW3.
TreeFamiTF314678.

Enzyme and pathway databases

ReactomeiR-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811438. Intra-Golgi traffic.
R-HSA-6811440. Retrograde transport at the Trans-Golgi-Network.

Miscellaneous databases

ChiTaRSiCOG1. human.
GeneWikiiCOG1.
GenomeRNAii9382.
PROiQ8WTW3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166685.
CleanExiHS_COG1.
ExpressionAtlasiQ8WTW3. baseline and differential.
GenevisibleiQ8WTW3. HS.

Family and domain databases

InterProiIPR033370. COG1.
[Graphical view]
PANTHERiPTHR31658. PTHR31658. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCOG1_HUMAN
AccessioniPrimary (citable) accession number: Q8WTW3
Secondary accession number(s): Q9NPV9, Q9P2G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2002
Last sequence update: March 1, 2002
Last modified: September 7, 2016
This is version 132 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.