ENSG00000103264


Homo sapiens

Features
Gene ID: ENSG00000103264
  
Biological name :FBXO31
  
Synonyms : F-box protein 31 / FBXO31 / Q5XUX0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: q24.2
Gene start: 87326987
Gene end: 87392142
  
Corresponding Affymetrix probe sets: 222352_at (Human Genome U133 Plus 2.0 Array)   224162_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000455772
Ensembl peptide - ENSP00000490402
Ensembl peptide - ENSP00000479703
Ensembl peptide - ENSP00000310841
NCBI entrez gene - 79791     See in Manteia.
OMIM - 609102
RefSeq - NM_024735
RefSeq - NM_001282683
RefSeq Peptide - NP_001269612
RefSeq Peptide - NP_079011
swissprot - Q5XUX0
swissprot - A0A0C4DGU8
swissprot - H3BQG7
swissprot - A0A1B0GV77
Ensembl - ENSG00000103264
  
Related genetic diseases (OMIM): 615979 - ?Mental retardation, autosomal recessive 45, 615979
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
 fbxo31ENSDARG00000062195Danio rerio
 ENSGALG00000005779Gallus gallus
 Fbxo31ENSMUSG00000052934Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC010531.1ENSG0000013115224


Protein motifs (from Interpro)
Interpro ID Name
 IPR001810  F-box domain
 IPR026941  F-box only protein 31
 IPR036047  F-box-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0031145 anaphase-promoting complex-dependent catabolic process IMP
 biological_processGO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0031571 mitotic G1 DNA damage checkpoint IEA
 biological_processGO:0043687 post-translational protein modification TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0019005 SCF ubiquitin ligase complex IEA
 cellular_componentGO:0043025 neuronal cell body ISS
 molecular_functionGO:0004842 ubiquitin-protein transferase activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030332 cyclin binding IEA


Pathways (from Reactome)
Pathway description
Neddylation
Antigen processing: Ubiquitination & Proteasome degradation


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:0000280 Coarse facial features 
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 HP:0000336 Prominent supraorbital ridges "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000490 Deep set eyes 
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 HP:0000574 Thick eyebrows 
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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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