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Protein

Conserved oligomeric Golgi complex subunit 4

Gene

COG4

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. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.1 Publication

GO - Biological processi

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

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000103051-MONOMER.
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 4
Short name:
COG complex subunit 4
Alternative name(s):
Component of oligomeric Golgi complex 4
Gene namesi
Name:COG4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:18620. COG4.

Subcellular locationi

  • Golgi apparatus membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication

GO - Cellular componenti

  • 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 2J (CDG2J)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.
See also OMIM:613489
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063767729R → W in CDG2J; severe defects in glycosylation. 2 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi729R → A: Severe defects in glycosylation. 1 Publication1
Mutagenesisi764E → A: Severe defects in glycosylation. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi25839.
MalaCardsiCOG4.
MIMi613489. phenotype.
OpenTargetsiENSG00000103051.
Orphaneti263501. COG4-CDG.
PharmGKBiPA38603.

Polymorphism and mutation databases

BioMutaiCOG4.
DMDMi311033464.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002135042 – 785Conserved oligomeric Golgi complex subunit 4Add BLAST784

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei6PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H9E3.
MaxQBiQ9H9E3.
PaxDbiQ9H9E3.
PeptideAtlasiQ9H9E3.
PRIDEiQ9H9E3.

PTM databases

iPTMnetiQ9H9E3.
PhosphoSitePlusiQ9H9E3.

Expressioni

Gene expression databases

BgeeiENSG00000103051.
CleanExiHS_COG4.
ExpressionAtlasiQ9H9E3. baseline and differential.
GenevisibleiQ9H9E3. HS.

Organism-specific databases

HPAiHPA040924.
HPA042539.

Interactioni

Subunit structurei

Monomer. Component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Mediates interaction of SCFD1 with the COG complex. Interacts with STX5.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
COG1Q8WTW32EBI-368382,EBI-368371
COG2Q147462EBI-368382,EBI-389449
COG5Q9UP832EBI-368382,EBI-389502
COG7P834364EBI-368382,EBI-389534
SCFD1Q8WVM810EBI-368382,EBI-722569
STX5Q131902EBI-368382,EBI-714206

Protein-protein interaction databases

BioGridi117365. 33 interactors.
DIPiDIP-32635N.
IntActiQ9H9E3. 15 interactors.
MINTiMINT-3069262.
STRINGi9606.ENSP00000315775.

Structurei

Secondary structure

1785
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi537 – 572Combined sources36
Turni573 – 575Combined sources3
Helixi580 – 615Combined sources36
Helixi617 – 625Combined sources9
Helixi626 – 629Combined sources4
Helixi636 – 644Combined sources9
Helixi649 – 666Combined sources18
Helixi669 – 691Combined sources23
Helixi698 – 716Combined sources19
Helixi723 – 726Combined sources4
Helixi728 – 737Combined sources10
Helixi742 – 747Combined sources6
Helixi750 – 753Combined sources4
Helixi762 – 769Combined sources8
Helixi777 – 782Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3HR0X-ray1.90A/B525-785[»]
ProteinModelPortaliQ9H9E3.
SMRiQ9H9E3.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H9E3.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 84Interaction with SCFD11 PublicationAdd BLAST83
Regioni85 – 153Interaction with STX51 PublicationAdd BLAST69
Regioni618 – 740D domainAdd BLAST123
Regioni741 – 785E domain; essential for proper cell surface glycosylationAdd BLAST45

Sequence similaritiesi

Belongs to the COG4 family.Curated

Phylogenomic databases

eggNOGiKOG0412. Eukaryota.
ENOG410XS60. LUCA.
GeneTreeiENSGT00390000003662.
HOVERGENiHBG031403.
InParanoidiQ9H9E3.
KOiK20291.
PhylomeDBiQ9H9E3.

Family and domain databases

InterProiIPR013167. COG_su4.
[Graphical view]
PfamiPF08318. COG4. 1 hit.
[Graphical view]
SMARTiSM00762. Cog4. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H9E3-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MADLDSPPKL SGVQQPSEGV GGGRCSEISA ELIRSLTELQ ELEAVYERLC
60 70 80 90 100
GEEKVVEREL DALLEQQNTI ESKMVTLHRM GPNLQLIEGD AKQLAGMITF
110 120 130 140 150
TCNLAENVSS KVRQLDLAKN RLYQAIQRAD DILDLKFCMD GVQTALRSED
160 170 180 190 200
YEQAAAHTHR YLCLDKSVIE LSRQGKEGSM IDANLKLLQE AEQRLKAIVA
210 220 230 240 250
EKFAIATKEG DLPQVERFFK IFPLLGLHEE GLRKFSEYLC KQVASKAEEN
260 270 280 290 300
LLMVLGTDMS DRRAAVIFAD TLTLLFEGIA RIVETHQPIV ETYYGPGRLY
310 320 330 340 350
TLIKYLQVEC DRQVEKVVDK FIKQRDYHQQ FRHVQNNLMR NSTTEKIEPR
360 370 380 390 400
ELDPILTEVT LMNARSELYL RFLKKRISSD FEVGDSMASE EVKQEHQKCL
410 420 430 440 450
DKLLNNCLLS CTMQELIGLY VTMEEYFMRE TVNKAVALDT YEKGQLTSSM
460 470 480 490 500
VDDVFYIVKK CIGRALSSSS IDCLCAMINL ATTELESDFR DVLCNKLRMG
510 520 530 540 550
FPATTFQDIQ RGVTSAVNIM HSSLQQGKFD TKGIESTDEA KMSFLVTLNN
560 570 580 590 600
VEVCSENIST LKKTLESDCT KLFSQGIGGE QAQAKFDSCL SDLAAVSNKF
610 620 630 640 650
RDLLQEGLTE LNSTAIKPQV QPWINSFFSV SHNIEEEEFN DYEANDPWVQ
660 670 680 690 700
QFILNLEQQM AEFKASLSPV IYDSLTGLMT SLVAVELEKV VLKSTFNRLG
710 720 730 740 750
GLQFDKELRS LIAYLTTVTT WTIRDKFARL SQMATILNLE RVTEILDYWG
760 770 780
PNSGPLTWRL TPAEVRQVLA LRIDFRSEDI KRLRL
Length:785
Mass (Da):89,083
Last modified:November 2, 2010 - v3
Checksum:i93E8597991934AD2
GO
Isoform 2 (identifier: Q9H9E3-2) [UniParc]FASTAAdd to basket
Also known as: Cog4S

The sequence of this isoform differs from the canonical sequence as follows:
     331-337: FRHVQNN → NFVFSFF
     338-785: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:337
Mass (Da):38,245
Checksum:i3255EF1D38584CC9
GO
Isoform 3 (identifier: Q9H9E3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Note: No experimental confirmation available.
Show »
Length:712
Mass (Da):81,098
Checksum:iE6426B98B87E5226
GO

Sequence cautioni

The sequence BAB15483 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti177E → G in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti234K → R in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti285T → A in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti486E → G in BAB15483 (PubMed:14702039).Curated1
Sequence conflicti588S → G in BAB14286 (PubMed:14702039).Curated1
Sequence conflicti588S → G in BAG59950 (PubMed:14702039).Curated1
Sequence conflicti644A → S in AAH06306 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058009158T → I.3 PublicationsCorresponds to variant rs3931036dbSNPEnsembl.1
Natural variantiVAR_063767729R → W in CDG2J; severe defects in glycosylation. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0375511 – 73Missing in isoform 3. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_001127331 – 337FRHVQNN → NFVFSFF in isoform 2. 1 Publication7
Alternative sequenceiVSP_001128338 – 785Missing in isoform 2. 1 PublicationAdd BLAST448

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB088369 mRNA. Translation: BAC05682.1.
AK022874 mRNA. Translation: BAB14286.1.
AK026435 mRNA. Translation: BAB15483.1. Different initiation.
AK297557 mRNA. Translation: BAG59950.1.
AC106804 Genomic DNA. No translation available.
BC000796 mRNA. Translation: AAH00796.1.
BC006306 mRNA. Translation: AAH06306.2.
BC013347 mRNA. Translation: AAH13347.2.
BC072438 mRNA. Translation: AAH72438.1.
AL050101 mRNA. Translation: CAB43272.1.
RefSeqiNP_001182068.1. NM_001195139.1.
NP_056201.2. NM_015386.2.
UniGeneiHs.208680.

Genome annotation databases

EnsembliENST00000482252; ENSP00000432802; ENSG00000103051. [Q9H9E3-2]
GeneIDi25839.
KEGGihsa:25839.
UCSCiuc059wqe.1. human. [Q9H9E3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB088369 mRNA. Translation: BAC05682.1.
AK022874 mRNA. Translation: BAB14286.1.
AK026435 mRNA. Translation: BAB15483.1. Different initiation.
AK297557 mRNA. Translation: BAG59950.1.
AC106804 Genomic DNA. No translation available.
BC000796 mRNA. Translation: AAH00796.1.
BC006306 mRNA. Translation: AAH06306.2.
BC013347 mRNA. Translation: AAH13347.2.
BC072438 mRNA. Translation: AAH72438.1.
AL050101 mRNA. Translation: CAB43272.1.
RefSeqiNP_001182068.1. NM_001195139.1.
NP_056201.2. NM_015386.2.
UniGeneiHs.208680.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3HR0X-ray1.90A/B525-785[»]
ProteinModelPortaliQ9H9E3.
SMRiQ9H9E3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117365. 33 interactors.
DIPiDIP-32635N.
IntActiQ9H9E3. 15 interactors.
MINTiMINT-3069262.
STRINGi9606.ENSP00000315775.

PTM databases

iPTMnetiQ9H9E3.
PhosphoSitePlusiQ9H9E3.

Polymorphism and mutation databases

BioMutaiCOG4.
DMDMi311033464.

Proteomic databases

EPDiQ9H9E3.
MaxQBiQ9H9E3.
PaxDbiQ9H9E3.
PeptideAtlasiQ9H9E3.
PRIDEiQ9H9E3.

Protocols and materials databases

DNASUi25839.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000482252; ENSP00000432802; ENSG00000103051. [Q9H9E3-2]
GeneIDi25839.
KEGGihsa:25839.
UCSCiuc059wqe.1. human. [Q9H9E3-1]

Organism-specific databases

CTDi25839.
DisGeNETi25839.
GeneCardsiCOG4.
GeneReviewsiCOG4.
H-InvDBHIX0013201.
HGNCiHGNC:18620. COG4.
HPAiHPA040924.
HPA042539.
MalaCardsiCOG4.
MIMi606976. gene.
613489. phenotype.
neXtProtiNX_Q9H9E3.
OpenTargetsiENSG00000103051.
Orphaneti263501. COG4-CDG.
PharmGKBiPA38603.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0412. Eukaryota.
ENOG410XS60. LUCA.
GeneTreeiENSGT00390000003662.
HOVERGENiHBG031403.
InParanoidiQ9H9E3.
KOiK20291.
PhylomeDBiQ9H9E3.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000103051-MONOMER.
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

ChiTaRSiCOG4. human.
EvolutionaryTraceiQ9H9E3.
GeneWikiiCOG4.
GenomeRNAii25839.
PROiQ9H9E3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103051.
CleanExiHS_COG4.
ExpressionAtlasiQ9H9E3. baseline and differential.
GenevisibleiQ9H9E3. HS.

Family and domain databases

InterProiIPR013167. COG_su4.
[Graphical view]
PfamiPF08318. COG4. 1 hit.
[Graphical view]
SMARTiSM00762. Cog4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOG4_HUMAN
AccessioniPrimary (citable) accession number: Q9H9E3
Secondary accession number(s): B4DMN8
, C9JS23, Q96D40, Q9BRF0, Q9BVZ2, Q9H5Y4, Q9Y3W3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2002
Last sequence update: November 2, 2010
Last modified: November 2, 2016
This is version 142 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.