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Aliases for COG5 Gene

Aliases for COG5 Gene

  • Component Of Oligomeric Golgi Complex 5 2 3 4 5
  • COG Complex Subunit 5 3 4
  • GOLTC1 3 4
  • GTC90 3 4
  • 13S Golgi Transport Complex 1 90 KDa Subunit 3
  • Conserved Oligomeric Golgi Complex Protein 5 3
  • Golgi Transport Complex 1 (90 KDa Subunit) 2
  • 13S Golgi Transport Complex 90 KDa Subunit 4
  • Golgi Transport Complex 1 4
  • GTC-90 4
  • CDG2I 3

External Ids for COG5 Gene

Previous HGNC Symbols for COG5 Gene

  • GOLTC1

Previous GeneCards Identifiers for COG5 Gene

  • GC07M105326
  • GC07M106389
  • GC07M106403
  • GC07M106436
  • GC07M106630
  • GC07M106842
  • GC07M101202

Summaries for COG5 Gene

Entrez Gene Summary for COG5 Gene

  • The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

GeneCards Summary for COG5 Gene

COG5 (Component Of Oligomeric Golgi Complex 5) is a Protein Coding gene. Diseases associated with COG5 include congenital disorder of glycosylation, type iii and hereditary persistence of alpha-fetoprotein. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport.

UniProtKB/Swiss-Prot for COG5 Gene

  • Required for normal Golgi function.

Gene Wiki entry for COG5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COG5 Gene

Genomics for COG5 Gene

Regulatory Elements for COG5 Gene

Promoters for COG5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COG5 on UCSC Golden Path with GeneCards custom track

Genomic Location for COG5 Gene

Chromosome:
7
Start:
107,201,555 bp from pter
End:
107,564,514 bp from pter
Size:
362,960 bases
Orientation:
Minus strand

Genomic View for COG5 Gene

Genes around COG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COG5 Gene

Proteins for COG5 Gene

  • Protein details for COG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UP83-COG5_HUMAN
    Recommended name:
    Conserved oligomeric Golgi complex subunit 5
    Protein Accession:
    Q9UP83
    Secondary Accessions:
    • A4D0R6
    • A4D0R7
    • O14555
    • O95008
    • Q6NUL5

    Protein attributes for COG5 Gene

    Size:
    839 amino acids
    Molecular mass:
    92743 Da
    Quaternary structure:
    • Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization.

    Alternative splice isoforms for COG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COG5 Gene

Proteomics data for COG5 Gene at MOPED

Post-translational modifications for COG5 Gene

  • Ubiquitination at Lys 488
  • Modification sites at PhosphoSitePlus

Other Protein References for COG5 Gene

No data available for DME Specific Peptides for COG5 Gene

Domains & Families for COG5 Gene

Gene Families for COG5 Gene

Protein Domains for COG5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COG5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UP83

UniProtKB/Swiss-Prot:

COG5_HUMAN :
  • Belongs to the COG5 family.
Family:
  • Belongs to the COG5 family.
genes like me logo Genes that share domains with COG5: view

Function for COG5 Gene

Molecular function for COG5 Gene

UniProtKB/Swiss-Prot Function:
Required for normal Golgi function.

Gene Ontology (GO) - Molecular Function for COG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with COG5: view
genes like me logo Genes that share phenotypes with COG5: view

Human Phenotype Ontology for COG5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COG5 Gene

Localization for COG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COG5 Gene

Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COG5 Gene COMPARTMENTS Subcellular localization image for COG5 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for COG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with COG5: view

Pathways & Interactions for COG5 Gene

genes like me logo Genes that share pathways with COG5: view

Gene Ontology (GO) - Biological Process for COG5 Gene

None

No data available for SIGNOR curated interactions for COG5 Gene

Drugs & Compounds for COG5 Gene

No Compound Related Data Available

Transcripts for COG5 Gene

Unigene Clusters for COG5 Gene

Component of oligomeric golgi complex 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COG5 Gene

No ASD Table

Relevant External Links for COG5 Gene

GeneLoc Exon Structure for
COG5
ECgene alternative splicing isoforms for
COG5

Expression for COG5 Gene

mRNA expression in normal human tissues for COG5 Gene

Protein differential expression in normal tissues from HIPED for COG5 Gene

This gene is overexpressed in Bone (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COG5 Gene



SOURCE GeneReport for Unigene cluster for COG5 Gene Hs.239631

genes like me logo Genes that share expression patterns with COG5: view

Protein tissue co-expression partners for COG5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COG5 Gene

Orthologs for COG5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COG5 36
  • 100 (a)
OneToOne
COG5 35
  • 99.5 (n)
  • 99.53 (a)
cow
(Bos Taurus)
Mammalia COG5 36
  • 93 (a)
OneToOne
COG5 35
  • 92 (n)
  • 93.73 (a)
dog
(Canis familiaris)
Mammalia COG5 35
  • 91.65 (n)
  • 93.36 (a)
COG5 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cog5 36
  • 89 (a)
OneToOne
Cog5 16
Cog5 35
  • 88.54 (n)
  • 90.2 (a)
oppossum
(Monodelphis domestica)
Mammalia COG5 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COG5 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563296 35
  • 87.02 (n)
  • 89.18 (a)
chicken
(Gallus gallus)
Aves COG5 35
  • 79.78 (n)
  • 86.92 (a)
COG5 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COG5 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15254 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cog5 35
  • 74.69 (n)
  • 81.39 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10229 35
zebrafish
(Danio rerio)
Actinopterygii cog5 35
  • 69.16 (n)
  • 78.53 (a)
cog5 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fws 36
  • 27 (a)
OneToOne
fws 37
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea cogc-5 36
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67930 35
  • 44.8 (n)
  • 33.86 (a)
rice
(Oryza sativa)
Liliopsida Os05g0378900 35
  • 41.93 (n)
  • 31.12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5851 36
  • 54 (a)
OneToOne
Species with no ortholog for COG5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COG5 Gene

ENSEMBL:
Gene Tree for COG5 (if available)
TreeFam:
Gene Tree for COG5 (if available)

Paralogs for COG5 Gene

No data available for Paralogs for COG5 Gene

Variants for COG5 Gene

Sequence variations from dbSNP and Humsavar for COG5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2269970 - 107,362,361(+) CCAGA(A/G)TGAGG reference, missense
VAR_039143 -
rs34087251 - 107,362,059(+) ACAAA(C/T)GTGAG reference, missense
rs35393416 - 107,298,193(+) CCATG(C/T)GTTGT reference, missense
rs720823 -- 107,210,900(+) CAGGT(A/G)ATTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COG5 Gene

Variant ID Type Subtype PubMed ID
nsv831087 CNV Gain 17160897
esv2664236 CNV Deletion 23128226
nsv888939 CNV Loss 21882294
esv271496 CNV Insertion 20981092
nsv819371 CNV Loss 19587683
nsv824250 CNV Loss 20364138
nsv7404 OTHER Inversion 18451855
esv2659843 CNV Deletion 23128226
nsv510107 CNV Loss 20534489
esv1007164 OTHER Inversion 20482838
esv2734986 CNV Deletion 23290073
esv2734987 CNV Deletion 23290073
nsv513679 OTHER Inversion 21212237
nsv436679 OTHER Inversion 17901297
esv2614488 OTHER Inversion 19546169
dgv53n47 OTHER Inversion 21111241
esv1631266 OTHER Inversion 17803354
nsv513680 OTHER Inversion 21212237
dgv124n16 OTHER Inversion 17901297
esv2669357 CNV Deletion 23128226

Variation tolerance for COG5 Gene

Residual Variation Intolerance Score: 57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.72; 73.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COG5 Gene

HapMap Linkage Disequilibrium report
COG5
Human Gene Mutation Database (HGMD)
COG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COG5 Gene

Disorders for COG5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for COG5 Gene - From: OMIM, ClinVar, and GeneTests

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iii
  • cdg2i
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
shaheen syndrome
  • shns
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
- elite association - COSMIC cancer census association via MalaCards
Search COG5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COG5_HUMAN
  • Congenital disorder of glycosylation 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. {ECO:0000269 PubMed:19690088}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COG5

Genetic Association Database (GAD)
COG5
Human Genome Epidemiology (HuGE) Navigator
COG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COG5
genes like me logo Genes that share disorders with COG5: view

No data available for Genatlas for COG5 Gene

Publications for COG5 Gene

  1. Purification and characterization of a novel 13 S hetero-oligomeric protein complex that stimulates in vitro Golgi transport. (PMID: 9792665) Walter D.M. … Waters M.G. (J. Biol. Chem. 1998) 2 3 4 67
  2. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. (PMID: 19690088) Paesold-Burda P. … Hennet T. (Hum. Mol. Genet. 2009) 3 23
  3. Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. (PMID: 11980916) Ungar D. … Waters M.G. (J. Cell Biol. 2002) 2 3
  4. The familial mediterranean fever protein interacts and colocalizes with a putative Golgi transporter. (PMID: 10782044) Chen X. … Fischel-Ghodsian N. (Proc. Soc. Exp. Biol. Med. 2000) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for COG5 Gene

Sources for COG5 Gene

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