Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79791
Gene name Gene Name - the full gene name approved by the HGNC.
F-box protein 31
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBXO31
Synonyms (NCBI Gene) Gene synonyms aliases
FBX14, FBXO14, Fbx31, MRT45, pp2386
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last cate
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777703 CAGGCA>T Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004529 hsa-miR-17-5p Luciferase reporter assay 19734348
MIRT026239 hsa-miR-192-5p Microarray 19074876
MIRT044521 hsa-miR-320a CLASH 23622248
MIRT040924 hsa-miR-18a-3p CLASH 23622248
MIRT040530 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19412162, 22632967, 33961781
GO:0005737 Component Cytoplasm IDA 24828503, 30171069
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609102 16510 ENSG00000103264
Protein
UniProt ID Q5XUX0
Protein name F-box only protein 31
Protein function Substrate-recognition component of the SCF(FBXO31) protein ligase complex, which specifically mediates the ubiquitination of proteins amidated at their C-terminus in response to oxidative stress, leading to their degradation by the proteasome (P
PDB 5VZT , 5VZU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 67 113 F-box-like Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain. Expressed at moderate levels in most tissues, except bone marrow. {ECO:0000269|PubMed:16357137}.
Sequence
MAVCARLCGVGPSRGCRRRQQRRGPAETAAADSEPDTDPEEERIEASAGVGGGLCAGPSP
PPPRCSLLELPPELLVEIFASLPGTDLPSLAQVCTKFRRILHTDTIWRRRCREEYGVCEN
LRKLEITGVSCRDVYAKLLHRYRHILGLWQPDIGPYGGLLNVVVDGLFIIGWMYLPPHDP
HVDDPMRFKPLFRIHLMERKAATVECMYGHKGPHHGHIQIVKKDEFSTKCNQTDHHRMSG
GRQEEFRTWLREEWGRTLEDIFHEHMQELILMKFIYTSQYDNCLTYRRIYLPPSRPDDLI
KPGLFKGTYGSHGLEIVMLSFHGRRARGTKITGDPNIPAGQQTVEIDLRHRIQLPDLENQ
RNFNELSRIVLEVRERVRQEQQEGGHEAGEGRGRQGPRESQPSPAQPRAEAPSKGPDGTP
GEDGGEPGDAVAAAEQPAQCGQGQPFVLPVGVSSRNEDYPRTCRMCFYGTGLIAGHGFTS
PERTPGVFILFDEDRFGFVWLELKSFSLYSRVQATFRNADAPSPQAFDEMLKNIQSLTS
Sequence length 539
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 45 rs587777703 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cerebral palsy cerebral palsy N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 36803542
Cerebral Palsy Associate 33675180
Developmental Disabilities Associate 33675180, 35019165
Esophageal Neoplasms Associate 31037126
Esophageal Squamous Cell Carcinoma Associate 33538099
Intellectual Disability Associate 35019165
Lymphedema distichiasis syndrome Associate 22407726
Motor Disorders Associate 33675180
Muscle Spasticity Associate 33675180
Neoplasms Inhibit 19412162, 24828503, 26124108, 28500896, 29343641, 30171069, 31413110