ENSG00000104723


Homo sapiens

Features
Gene ID: ENSG00000104723
  
Biological name :TUSC3
  
Synonyms : Q13454 / tumor suppressor candidate 3 / TUSC3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: p22
Gene start: 15417215
Gene end: 15766649
  
Corresponding Affymetrix probe sets: 209227_at (Human Genome U133 Plus 2.0 Array)   209228_x_at (Human Genome U133 Plus 2.0 Array)   213423_x_at (Human Genome U133 Plus 2.0 Array)   232770_at (Human Genome U133 Plus 2.0 Array)   235801_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420829
Ensembl peptide - ENSP00000423426
Ensembl peptide - ENSP00000426973
Ensembl peptide - ENSP00000426880
Ensembl peptide - ENSP00000425777
Ensembl peptide - ENSP00000424544
Ensembl peptide - ENSP00000371450
NCBI entrez gene - 7991     See in Manteia.
OMIM - 601385
RefSeq - XM_011544652
RefSeq - XM_017013860
RefSeq - XM_011544651
RefSeq - XM_011544654
RefSeq - NM_006765
RefSeq - NM_178234
RefSeq - XM_017013861
RefSeq Peptide - NP_006756
RefSeq Peptide - NP_001343358
RefSeq Peptide - NP_839952
swissprot - Q13454
swissprot - D6RIY7
swissprot - A0A0A0MTC2
swissprot - D6RA37
swissprot - D6RDV0
Ensembl - ENSG00000104723
  
Related genetic diseases (OMIM): 611093 - Mental retardation, autosomal recessive 7, 611093
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
 tusc3ENSDARG00000078854Danio rerio
 TUSC3ENSGALG00000013674Gallus gallus
 Tusc3ENSMUSG00000039530Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MAGT1 / Q9H0U3 / magnesium transporter 1ENSG0000010215864


Protein motifs (from Interpro)
Interpro ID Name
 IPR021149  Oligosaccharyl transferase complex, subunit OST3/OST6
 IPR036249  Thioredoxin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006487 protein N-linked glycosylation NAS
 biological_processGO:0015693 magnesium ion transport IMP
 biological_processGO:0018279 protein N-linked glycosylation via asparagine TAS
 biological_processGO:0050890 cognition IMP
 biological_processGO:0055085 transmembrane transport TAS
 biological_processGO:1903830 magnesium ion transmembrane transport IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0008250 oligosaccharyltransferase complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity IBA
 molecular_functionGO:0015095 magnesium ion transmembrane transporter activity TAS


Pathways (from Reactome)
Pathway description
Asparagine N-linked glycosylation
Miscellaneous transport and binding events


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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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