Human Gene COG5 (ENST00000297135.9_11) from GENCODE V47lift37
  Description: component of oligomeric golgi complex 5, transcript variant 1 (from RefSeq NM_006348.5)
Gencode Transcript: ENST00000297135.9_11
Gencode Gene: ENSG00000164597.15_15
Transcript (Including UTRs)
   Position: hg19 chr7:106,841,817-107,204,365 Size: 362,549 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr7:106,843,961-107,204,341 Size: 360,381 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:106,841,817-107,204,365)mRNA (may differ from genome)Protein (829 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COG5_HUMAN
DESCRIPTION: RecName: Full=Conserved oligomeric Golgi complex subunit 5; Short=COG complex subunit 5; AltName: Full=13S Golgi transport complex 90 kDa subunit; Short=GTC-90; AltName: Full=Component of oligomeric Golgi complex 5; AltName: Full=Golgi transport complex 1;
FUNCTION: Required for normal Golgi function (By similarity).
SUBUNIT: 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).
INTERACTION: Q9H9E3:COG4; NbExp=2; IntAct=EBI-389502, EBI-368382; P83436:COG7; NbExp=2; IntAct=EBI-389502, EBI-389534;
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein.
DISEASE: Defects in COG5 are the cause of congenital disorder of glycosylation type 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.
SIMILARITY: Belongs to the COG5 family.
CAUTION: It is uncertain whether Met-1 or Met-32 is the initiator.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COG5
Diseases sorted by gene-association score: congenital disorder of glycosylation, type iii* (1250)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.14 RPKM in Cervix - Endocervix
Total median expression: 214.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.1024-0.171 Picture PostScript Text
3' UTR -492.802144-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019465 - COG_su5

Pfam Domains:
PF08700 - Vps51/Vps67
PF10392 - Golgi transport complex subunit 5

SCOP Domains:
48334 - DNA repair protein MutS, domain III
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on Q9UP83
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0015031 protein transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0017119 Golgi transport complex
GO:0032588 trans-Golgi network membrane


-  Descriptions from all associated GenBank mRNAs
  AK022835 - Homo sapiens cDNA FLJ12773 fis, clone NT2RP2001660, highly similar to Conserved oligomeric Golgi complex component 5.
AF058718 - Homo sapiens putative 13 S Golgi transport complex 90kD subunit brain-specific isoform mRNA, complete cds.
AK314270 - Homo sapiens cDNA, FLJ95023.
BC068540 - Homo sapiens component of oligomeric golgi complex 5, mRNA (cDNA clone MGC:87389 IMAGE:4374289), complete cds.
HQ258000 - Synthetic construct Homo sapiens clone IMAGE:100072309 component of oligomeric golgi complex 5 (COG5), transcript variant 3 (COG5) gene, encodes complete protein.
KJ898221 - Synthetic construct Homo sapiens clone ccsbBroadEn_07615 COG5 gene, encodes complete protein.
LF209511 - JP 2014500723-A/17014: Polycomb-Associated Non-Coding RNAs.
LF213998 - JP 2014500723-A/21501: Polycomb-Associated Non-Coding RNAs.
MA449575 - JP 2018138019-A/21501: Polycomb-Associated Non-Coding RNAs.
MA445088 - JP 2018138019-A/17014: Polycomb-Associated Non-Coding RNAs.
CU692563 - Synthetic construct Homo sapiens gateway clone IMAGE:100022320 3' read HBP1 mRNA.
CU677822 - Synthetic construct Homo sapiens gateway clone IMAGE:100017382 3' read HBP1 mRNA.
AK123726 - Homo sapiens cDNA FLJ41732 fis, clone HLUNG2017546.
JD090183 - Sequence 71207 from Patent EP1572962.
JD235501 - Sequence 216525 from Patent EP1572962.
JD309860 - Sequence 290884 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UP83 (Reactome details) participates in the following event(s):

R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane
R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering
R-HSA-8849748 The COG complex binds RABs at the Golgi membrane
R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811438 Intra-Golgi traffic
R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A4D0R6, A4D0R7, COG5 , COG5_HUMAN, ENST00000297135.1, ENST00000297135.2, ENST00000297135.3, ENST00000297135.4, ENST00000297135.5, ENST00000297135.6, ENST00000297135.7, ENST00000297135.8, GOLTC1, GTC90, NM_006348, O14555, O95008, Q6NUL5, Q9UP83, uc317lyh.1, uc317lyh.2
UCSC ID: ENST00000297135.9_11
RefSeq Accession: NM_006348.5
Protein: Q9UP83 (aka COG5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene COG5:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.