ENSG00000113719


Homo sapiens

Features
Gene ID: ENSG00000113719
  
Biological name :ERGIC1
  
Synonyms : endoplasmic reticulum-golgi intermediate compartment 1 / ERGIC1 / Q969X5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q35.1
Gene start: 172834275
Gene end: 172952685
  
Corresponding Affymetrix probe sets: 223847_s_at (Human Genome U133 Plus 2.0 Array)   224024_at (Human Genome U133 Plus 2.0 Array)   224576_at (Human Genome U133 Plus 2.0 Array)   224577_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429501
Ensembl peptide - ENSP00000489795
Ensembl peptide - ENSP00000325127
Ensembl peptide - ENSP00000377374
Ensembl peptide - ENSP00000427713
Ensembl peptide - ENSP00000428064
Ensembl peptide - ENSP00000428116
NCBI entrez gene - 57222     See in Manteia.
RefSeq - XM_011534598
RefSeq - NM_001031711
RefSeq - XM_006714892
RefSeq - XM_011534597
RefSeq Peptide - NP_001026881
swissprot - A0A1B0GTQ3
swissprot - H0YAV2
swissprot - F2Z2P5
swissprot - F2Z2U2
swissprot - F2Z3Q5
swissprot - Q969X5
Ensembl - ENSG00000113719
  
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
 ergic1ENSDARG00000100047Danio rerio
 ERGIC1ENSGALG00000002863Gallus gallus
 Ergic1ENSMUSG00000001576Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ERGIC3 / Q9Y282 / ERGIC and golgi 3ENSG0000012599136
ERGIC2 / Q96RQ1 / ERGIC and golgi 2ENSG0000008750223


Protein motifs (from Interpro)
Interpro ID Name
 IPR012936  Endoplasmic reticulum vesicle transporter, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport IDA
 biological_processGO:0016192 vesicle-mediated transport IEA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0002803 Congenital contractures 
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 HP:0002804 Arthrogryposis multiplex congenita 
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 HP:0003198 Myopathy 
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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