GediPNet logo

FBXO40 (F-box protein 40)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51725
Gene nameGene Name - the full gene name approved by the HGNC.
F-box protein 40
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FBXO40
SynonymsGene synonyms aliases
FBX40
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.33
SummarySummary of gene provided in NCBI Entrez Gene.
Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box pr
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT489012 hsa-miR-4716-3p PAR-CLIP 23592263
MIRT489011 hsa-miR-6794-5p PAR-CLIP 23592263
MIRT489010 hsa-miR-4693-3p PAR-CLIP 23592263
MIRT489009 hsa-miR-5192 PAR-CLIP 23592263
MIRT489008 hsa-miR-1249-5p PAR-CLIP 23592263
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0005737 Component Cytoplasm ISS
GO:0005829 Component Cytosol TAS
GO:0008270 Function Zinc ion binding IEA
GO:0042692 Process Muscle cell differentiation ISS 17928169
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9UH90
Protein name F-box only protein 40 (Muscle disease-related protein)
Protein function Probable substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that may function in myogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15965 zf-TRAF_2
12 104
TRAF-like zinc-finger
Domain
Sequence
MGKARRSPPGHHRHCEGCFNRHCHIPVEPNTSCLVISCHLLCGATFHMCKEAEHQLLCPL
EQVPCLNSEYGCPLSMSRHKLAKHLQVCPASVVCCSMEWNRWPN
VDSETTLHENIMKETP
SEECLDTALALQDQKVLFRSLKMVELFPETREATEEEPTMNGETSVEEMGGAVGGVDIGL
VPHGLSATNGEMAELSQEEREVLAKTKEGMDLVKFGQWENIFSKEHAASALTNSSASCES
KNKNDSEKEQISSGHNMVEGEGAPKKKEPQENQKQQDVRTAMETTGLAPWQDGVLERLKT
AVDAKDYNMYLVHNGRMLIHFGQMPACTPKERDFVYGKLEAQEVKTVYTFKVPVSYCGKR
ARLGDAMLSCKPSEHKAVDTSDLGITVEDLPKSDLIKTTLQCALERELKGHVISESRSID
GLFMDFATQTYNFEPEQFSSGTVLADLTAATPGGLHVELHSECVTRRHNKSSSAFTFTCN
KFFRRDEFPLHFKNVHTDIQSCLNGWFQHRCPLAYLGCTFVQNHFRPPGQKAKVIYSQEL
KTFAIKPEVAPELSEGRKNNHLLGHGGKSQNSLTSLPLEILKYIAGFLDSVSLAQLSQVS
VLMRNICATLLQERGMVLLQWKKKRYSHGGTSWRVHREIWQFSSLFSKIKSWEFNEVTSM
SEHLKSCPFNIVEHKTDPILLTSMCQPREQARESLVSTFRIRPRGRYVS
Sequence length 709
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 19404257

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412