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    COG8 component of oligomeric golgi complex 8 [ Homo sapiens (human) ]

    Gene ID: 84342, updated on 5-Mar-2024

    Summary

    Official Symbol
    COG8provided by HGNC
    Official Full Name
    component of oligomeric golgi complex 8provided by HGNC
    Primary source
    HGNC:HGNC:18623
    See related
    Ensembl:ENSG00000213380 MIM:606979; AllianceGenome:HGNC:18623
    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
    DOR1; CDG2H
    Summary
    This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 17.4), kidney (RPKM 11.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See COG8 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (69326428..69339564, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (75128123..75141258, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69360331..69373467, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 22, pseudogene Neighboring gene syntrophin beta 2 Neighboring gene zinc finger CCHC-type and RNA binding motif containing 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69344125-69345075 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69345076-69346025 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:69349279-69350478 Neighboring gene vacuolar protein sorting 4 homolog A Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:69363857-69364504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:69365153-69365800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11037 Neighboring gene peptide deformylase, mitochondrial Neighboring gene nucleolar pre-rRNA processing protein NIP7 Neighboring gene transmembrane p24 trafficking protein 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22315

    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 IMP
    Inferred from Mutant Phenotype
    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 protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retrograde transport, vesicle recycling within Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    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 membrane HDA PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    conserved oligomeric Golgi complex subunit 8
    Names
    COG complex subunit 8
    conserved oligomeric golgi complex component 8
    dependent on RIC1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009013.2 RefSeqGene

      Range
      5000..18136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001374871.1NP_001361800.1  conserved oligomeric Golgi complex subunit 8 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC026464
      Consensus CDS
      CCDS92189.1
      UniProtKB/TrEMBL
      B4DYU2, H3BQV3
      Related
      ENSP00000455954.1, ENST00000562081.2
      Conserved Domains (1) summary
      pfam04124
      Location:50364
      Dor1; Dor1-like family
    2. NM_001379261.1NP_001366190.1  conserved oligomeric Golgi complex subunit 8 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (1) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family
    3. NM_001379262.1NP_001366191.1  conserved oligomeric Golgi complex subunit 8 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (2) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family
      cl00234
      Location:588627
      Pep_deformylase; Polypeptide or peptide deformylase; a family of metalloenzymes that catalyzes the removal of the N-terminal formyl group in a growing polypeptide chain following translation initiation during protein synthesis in prokaryotes. These enzymes utilize Fe(II) ...
    4. NM_001379263.1NP_001366192.1  conserved oligomeric Golgi complex subunit 8 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (1) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family
    5. NM_001379264.1NP_001366193.1  conserved oligomeric Golgi complex subunit 8 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC026464
      Consensus CDS
      CCDS10876.1
      UniProtKB/Swiss-Prot
      Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (1) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family
    6. NM_001379265.1NP_001366194.1  conserved oligomeric Golgi complex subunit 8 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC026464
      UniProtKB/TrEMBL
      B4DYU2
      Conserved Domains (2) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family
      cl00234
      Location:528568
      Pep_deformylase; Polypeptide or peptide deformylase; a family of metalloenzymes that catalyzes the removal of the N-terminal formyl group in a growing polypeptide chain following translation initiation during protein synthesis in prokaryotes. These enzymes utilize Fe(II) ...
    7. NM_001379266.1NP_001366195.1  conserved oligomeric Golgi complex subunit 8 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC026464
      Conserved Domains (1) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family
    8. NM_032382.5NP_115758.3  conserved oligomeric Golgi complex subunit 8 isoform 1

      See identical proteins and their annotated locations for NP_115758.3

      Status: REVIEWED

      Source sequence(s)
      AC026464, BC017492, BC121022
      Consensus CDS
      CCDS10876.1
      UniProtKB/Swiss-Prot
      Q0VAK2, Q8WVV6, Q96MW5, Q9H6F8
      UniProtKB/TrEMBL
      B4DYU2
      Related
      ENSP00000305459.6, ENST00000306875.10
      Conserved Domains (1) summary
      pfam04124
      Location:50388
      Dor1; Dor1-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      69326428..69339564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      75128123..75141258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)