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

    Gene ID: 83548, updated on 10-Dec-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
    mouse all
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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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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