Q9H9E3 (COG4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 108.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Conserved oligomeric Golgi complex subunit 4 Short name=COG complex subunit 4 Alternative name(s): Component of oligomeric Golgi complex 4 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 785 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1. Ref.8 |
| Subunit structure | 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. Ref.8 Ref.10 |
| Subcellular location | Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side Probable Ref.6. |
| Involvement in disease | Congenital disorder of glycosylation 2J (CDG2J) [MIM:613489]: 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. |
| Sequence similarities | Belongs to the COG4 family. |
| Sequence caution | The sequence BAB15483.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
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 |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | Golgi organization Inferred from mutant phenotype Ref.8. Source: UniProtKB Golgi vesicle prefusion complex stabilizationInferred from mutant phenotype Ref.8. Source: UniProtKB protein transportInferred from electronic annotation. Source: UniProtKB-KW retrograde vesicle-mediated transport, Golgi to ERInferred from mutant phenotype Ref.8. Source: UniProtKB |
| Cellular_component | Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell Golgi transport complexInferred from direct assay PubMed 15047703. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| COG1 | Q8WTW3 | 2 | EBI-368382,EBI-368371 | |
| COG2 | Q14746 | 2 | EBI-368382,EBI-389449 | |
| COG5 | Q9UP83 | 2 | EBI-368382,EBI-389502 | |
| COG7 | P83436 | 2 | EBI-368382,EBI-389534 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H9E3-1) 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: Q9H9E3-2) 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. | ||||||
| Isoform 3 (identifier: Q9H9E3-3) The sequence of this isoform differs from the canonical sequence as follows: 1-73: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 785 | 785 | Conserved oligomeric Golgi complex subunit 4 | PRO_0000213504 | |||||||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||||||
| Region | 1 – 84 | 84 | Interacts with SCFD1 | ||||||||||||||||||||||||||||||||||
| Region | 85 – 153 | 69 | Interacts with STX5 | ||||||||||||||||||||||||||||||||||
| Region | 618 – 740 | 123 | D domain | ||||||||||||||||||||||||||||||||||
| Region | 741 – 785 | 45 | E domain; essential for proper cell surface glycosylation | ||||||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 73 | 73 | Missing in isoform 3. | VSP_037551 | |||||||||||||||||||||||||||||||||
| Alternative sequence | 331 – 337 | 7 | FRHVQNN → NFVFSFF in isoform 2. | VSP_001127 | |||||||||||||||||||||||||||||||||
| Alternative sequence | 338 – 785 | 448 | Missing in isoform 2. | VSP_001128 | |||||||||||||||||||||||||||||||||
| Natural variant | 158 | 1 | T → I. Ref.1 Ref.2 Ref.4 Corresponds to variant rs3931036 [ dbSNP | Ensembl ]. | VAR_058009 | |||||||||||||||||||||||||||||||||
| Natural variant | 729 | 1 | R → W in CDG2J; severe defects in glycosylation. Ref.10 Ref.11 | VAR_063767 | |||||||||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||||||||
| Mutagenesis | 729 | 1 | R → A: Severe defects in glycosylation. Ref.10 | ||||||||||||||||||||||||||||||||||
| Mutagenesis | 764 | 1 | E → A: Severe defects in glycosylation. Ref.10 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 177 | 1 | E → G in BAB14286. Ref.2 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 234 | 1 | K → R in BAB14286. Ref.2 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 285 | 1 | T → A in BAB14286. Ref.2 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 486 | 1 | E → G in BAB15483. Ref.2 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 588 | 1 | S → G in BAB14286. Ref.2 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 588 | 1 | S → G in BAG59950. Ref.2 | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 644 | 1 | A → S in AAH06306. Ref.4 | ||||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||
| Helix | 537 – 572 | 36 | |||||||||||||||||||||||||||||||||||
| Turn | 573 – 575 | 3 | |||||||||||||||||||||||||||||||||||
| Helix | 580 – 615 | 36 | |||||||||||||||||||||||||||||||||||
| Helix | 617 – 625 | 9 | |||||||||||||||||||||||||||||||||||
| Helix | 626 – 629 | 4 | |||||||||||||||||||||||||||||||||||
| Helix | 636 – 644 | 9 | |||||||||||||||||||||||||||||||||||
| Helix | 649 – 666 | 18 | |||||||||||||||||||||||||||||||||||
| Helix | 669 – 691 | 23 | |||||||||||||||||||||||||||||||||||
| Helix | 698 – 716 | 19 | |||||||||||||||||||||||||||||||||||
| Helix | 723 – 726 | 4 | |||||||||||||||||||||||||||||||||||
| Helix | 728 – 737 | 10 | |||||||||||||||||||||||||||||||||||
| Helix | 742 – 747 | 6 | |||||||||||||||||||||||||||||||||||
| Helix | 750 – 753 | 4 | |||||||||||||||||||||||||||||||||||
| Helix | 762 – 769 | 8 | |||||||||||||||||||||||||||||||||||
| Helix | 777 – 782 | 6 | |||||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cog4S, a splicing variant of Cog4." Ariga H. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT ILE-158. Tissue: T-cell. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ILE-158. Tissue: Brain, Ileal mucosa and Testis. |
| [3] | "The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. Pennacchio L.A.Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] 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), VARIANT ILE-158. Tissue: Muscle, Placenta, Skin and Testis. |
| [5] | "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] OF 229-785 (ISOFORM 1). Tissue: Uterus. |
| [6] | "The Sec34/35 Golgi transport complex is related to the exocyst, defining a family of complexes involved in multiple steps of membrane traffic." Whyte J.R., Munro S. Dev. Cell 1:527-537(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [7] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
| [8] | "Direct interaction between the COG complex and the SM protein, Sly1, is required for Golgi SNARE pairing." Laufman O., Kedan A., Hong W., Lev S. EMBO J. 28:2006-2017(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH SCFD1 AND STX5. |
| [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] | "Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene." Richardson B.C., Smith R.D., Ungar D., Nakamura A., Jeffrey P.D., Lupashin V.V., Hughson F.M. Proc. Natl. Acad. Sci. U.S.A. 106:13329-13334(2009) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 525-785, SUBUNIT, IDENTIFICATION OF DOMAINS D AND E, CHARACTERIZATION OF VARIANT CDG2J TRP-729, MUTAGENESIS OF ARG-729 AND GLU-764. |
| [11] | "Golgi function and dysfunction in the first COG4-deficient CDG type II patient." Reynders E., Foulquier F., Leao Teles E., Quelhas D., Morelle W., Rabouille C., Annaert W., Matthijs G. Hum. Mol. Genet. 18:3244-3256(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CDG2J TRP-729. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||
| IPI | IPI00149849. IPI00220800. IPI01012765. | ||||||||||||
| RefSeq | NP_001182068.1. NM_001195139.1. NP_056201.2. NM_015386.2. | ||||||||||||
| UniGene | Hs.208680. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9H9E3. | ||||||||||||
| SMR | Q9H9E3. Positions 536-785. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| DIP | DIP-32635N. | ||||||||||||
| IntAct | Q9H9E3. 8 interactions. | ||||||||||||
| STRING | 9606.ENSP00000315775. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q9H9E3. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 311033464. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q9H9E3. | ||||||||||||
| PRIDE | Q9H9E3. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 25839. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000393612; ENSP00000377236; ENSG00000103051. ENST00000482252; ENSP00000432802; ENSG00000103051. | ||||||||||||
| GeneID | 25839. | ||||||||||||
| KEGG | hsa:25839. | ||||||||||||
| UCSC | uc002ezc.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 25839. | ||||||||||||
| GeneCards | GC16M070514. | ||||||||||||
| H-InvDB | HIX0013201. | ||||||||||||
| HGNC | HGNC:18620. COG4. | ||||||||||||
| HPA | HPA040924. HPA042539. | ||||||||||||
| MIM | 606976. gene. 613489. phenotype. | ||||||||||||
| neXtProt | NX_Q9H9E3. | ||||||||||||
| Orphanet | 263501. CDG syndrome type IIj. | ||||||||||||
| PharmGKB | PA38603. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG321175. | ||||||||||||
| HOVERGEN | HBG031403. | ||||||||||||
| InParanoid | Q9H9E3. | ||||||||||||
| OrthoDB | EOG4X3H0S. | ||||||||||||
| PhylomeDB | Q9H9E3. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q9H9E3. | ||||||||||||
| Bgee | Q9H9E3. | ||||||||||||
| CleanEx | HS_COG4. | ||||||||||||
| Genevestigator | Q9H9E3. | ||||||||||||
| GermOnline | ENSG00000103051. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR013167. COG_su4. [Graphical view] | ||||||||||||
| Pfam | PF08318. COG4. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00762. Cog4. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q9H9E3. | ||||||||||||
| GenomeRNAi | 25839. | ||||||||||||
| NextBio | 47151. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | COG4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H9E3 Secondary accession number(s): B4DMN8 Q9Y3W3 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
