ENSG00000164597


Homo sapiens

Features
Gene ID: ENSG00000164597
  
Biological name :COG5
  
Synonyms : COG5 / component of oligomeric golgi complex 5 / Q9UP83
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q22.3
Gene start: 107201555
Gene end: 107564514
  
Corresponding Affymetrix probe sets: 203629_s_at (Human Genome U133 Plus 2.0 Array)   203630_s_at (Human Genome U133 Plus 2.0 Array)   227089_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000297135
Ensembl peptide - ENSP00000334703
Ensembl peptide - ENSP00000377228
Ensembl peptide - ENSP00000476238
NCBI entrez gene - 10466     See in Manteia.
OMIM - 606821
RefSeq - NM_006348
RefSeq - NM_001161520
RefSeq - NM_181733
RefSeq Peptide - NP_001154992
RefSeq Peptide - NP_006339
RefSeq Peptide - NP_859422
swissprot - Q9UP83
swissprot - U3KQU7
Ensembl - ENSG00000164597
  
Related genetic diseases (OMIM): 613612 - Congenital disorder of glycosylation, type IIi, 613612
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cog5ENSDARG00000008235Danio rerio
 COG5ENSGALG00000042764Gallus gallus
 Cog5ENSMUSG00000035933Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019465  Conserved oligomeric Golgi complex subunit 5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0006891 intra-Golgi vesicle-mediated transport IEA
 biological_processGO:0015031 protein transport IEA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0017119 Golgi transport complex IEA
 cellular_componentGO:0032588 trans-Golgi network membrane TAS
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001272 Cerebellar atrophy 
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 HP:0002078 Truncal ataxia 
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 HP:0003642 Abnormal isoelectric focusing of serum transferrin (type 1 pattern) 
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 HP:0007366 Atrophy/Degeneration affecting the brainstem 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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