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COG3 component of oligomeric golgi complex 3 [ Homo sapiens (human) ]

Gene ID: 83548, updated on 27-Nov-2024

Summary

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Official Symbol
COG3provided by HGNC
Official Full Name
component of oligomeric golgi complex 3provided by HGNC
Primary source
HGNC:HGNC:18619
See related
Ensembl:ENSG00000136152 MIM:606975; AllianceGenome:HGNC:18619
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SEC34; CDG2BB
Summary
This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]
Expression
Ubiquitous expression in thyroid (RPKM 12.6), prostate (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

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See COG3 in Genome Data Viewer
Location:
13q14.13
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (45464939..45536701)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (44685393..44758036)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (46039074..46110836)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 30 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5316 Neighboring gene SLC25A30 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7680 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:45996790-45997291 Neighboring gene peptidylprolyl isomerase A pseudogene 25 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:46058676-46059178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46114323-46114822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:46115537-46116388 Neighboring gene glutamate rich 6B Neighboring gene RNA, 5S ribosomal pseudogene 27 Neighboring gene TIMM9 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. Duan R, et al. J Inherit Metab Dis, 2023 Nov. PMID 37711075, Free PMC Article
  2. Identification of a human orthologue of Sec34p as a component of the cis-Golgi vesicle tethering machinery. Suvorova ES, et al. J Biol Chem, 2001 Jun 22. PMID 11292827
  3. COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation. Shestakova A, et al. Traffic, 2006 Feb. PMID 16420527
  4. TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transport. Ong YS, et al. J Cell Sci, 2014 Jul 1. PMID 24806965, Free PMC Article
  5. Rab33b and Rab6 are functionally overlapping regulators of Golgi homeostasis and trafficking. Starr T, et al. Traffic, 2010 May. PMID 20163571

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
    Title: Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
  2. Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp
    Title: Sec34 is implicated in traffic from the endoplasmic reticulum to the Golgi and exists in a complex with GTC-90 and ldlBp.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital disorder of glycosylation, type IIbb
MedGen: C5882705 OMIM: 620546 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of component of oligomeric golgi complex 3 (COG3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Golgi organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in Golgi organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intra-Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in protein glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, vesicle recycling within Golgi IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
part_of Golgi transport complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Golgi transport complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Golgi transport complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cis-Golgi network IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in trans-Golgi network membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
conserved oligomeric Golgi complex subunit 3
Names
COG complex subunit 3
p94
tethering factor SEC34
vesicle-docking protein SEC34 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_031431.4 → NP_113619.3  conserved oligomeric Golgi complex subunit 3

    Status: REVIEWED

    Source sequence(s)
    AL139326, AL606514
    Consensus CDS
    CCDS9398.1
    UniProtKB/Swiss-Prot
    B2RAW5, Q5VT70, Q8IXX4, Q96JB2, Q9BZ92
    Related
    ENSP00000258654.8, ENST00000349995.10
    Conserved Domains (1) summary
    pfam04136
    Location:131 → 274
    Sec34; Sec34-like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    45464939..45536701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430702.1 → XP_047286658.1  conserved oligomeric Golgi complex subunit 3 isoform X1

RNA

  1. XR_429222.5 RNA Sequence

  2. XR_007063702.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    44685393..44758036
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375069.1 → XP_054231044.1  conserved oligomeric Golgi complex subunit 3 isoform X1

RNA

  1. XR_008488787.1 RNA Sequence

  2. XR_008488788.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001204476.1: Suppressed sequence

    Description
    NM_001204476.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JB2.3 GenPept UniProtKB/Swiss-Prot:Q96JB2

Gene LinkOut

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