Gene Gene information from NCBI Gene database.
Entrez ID 64839
Gene name F-box and leucine rich repeat protein 17
Gene symbol FBXL17
Synonyms (NCBI Gene)
FBXO13Fbl17Fbx13
Chromosome 5
Chromosome location 5q21.3
Summary Members of the F-box protein family, such as FBXL17, 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
miRNA miRNA information provided by mirtarbase database.
145
miRTarBase ID miRNA Experiments Reference
MIRT030830 hsa-miR-21-5p Microarray 18591254
MIRT715556 hsa-miR-330-3p HITS-CLIP 19536157
MIRT715555 hsa-miR-548b-3p HITS-CLIP 19536157
MIRT715554 hsa-miR-548p HITS-CLIP 19536157
MIRT715553 hsa-miR-186-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 27234298
GO:0005515 Function Protein binding IPI 24035498, 27234298, 27705803, 30190310, 33961781, 35869491
GO:0005634 Component Nucleus IDA 24035498, 27234298
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609083 13615 ENSG00000145743
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UF56
Protein name F-box/LRR-repeat protein 17 (F-box and leucine-rich repeat protein 17) (F-box only protein 13)
Protein function Substrate-recognition component of the SCF(FBXL17) E3 ubiquitin ligase complex, a key component of a quality control pathway required to ensure functional dimerization of BTB domain-containing proteins (dimerization quality control, DQC) (PubMed
PDB 6W66 , 6WCQ , 8UAH , 8UBT , 8UBU , 8UBV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 321 368 F-box-like Domain
PF13516 LRR_6 615 639 Leucine Rich repeat Repeat
Sequence
MGHLLSKEPRNRPSQKRPRCCSWCRRRRPLLRLPRRTPAKVPPQPAAPRSRDCFFRGPCM
LCFIVHSPGAPAPAGPEEEPPLSPPPRDGAYAAASSSQHLARRYAALAAEDCAAAARRFL
LSSAAAAAAAAASASSPASCCKELGLAAAAAWEQQGRSLFLASLGPVRFLGPPAAVQLFR
GPTPSPAELPTPPEMVCKRKGAGVPACTPCKQPRCGGGGCGGGGGGGGGGGPAGGGASPP
RPPDAGCCQAPEQPPQPLCPPPSSPTSEGAPTEAGGDAVRAGGTAPLSAQQQHECGDADC
RESPENPCDCHREPPPETPDINQLPPSILLKIFSNLSLDERCLSASLVCKYWRDLCLDFQ
FWKQLDLS
SRQQVTDELLEKIASRSQNIIEINISDCRSMSDNGVCVLAFKCPGLLRYTAY
RCKQLSDTSIIAVASHCPLLQKVHVGNQDKLTDEGLKQLGSKCRELKDIHFGQCYKISDE
GMIVIAKGCLKLQRIYMQENKLVTDQSVKAFAEHCPELQYVGFMGCSVTSKGVIHLTKLR
NLSSLDLRHITELDNETVMEIVKRCKNLSSLNLCLNWIINDRCVEVIAKEGQNLKELYLV
SCKITDYALIAIGRYSMTIETVDVGWCKEITDQGATLIAQSSKSLRYLGLMRCDKVNEVT
VEQLVQQYPHITFSTVLQDCKRTLERAYQMGWTPNMSAASS
Sequence length 701
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atherosclerosis Associate 35165267
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Associate 34573389
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 18820369, 24528085, 31560077
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 35165267
★☆☆☆☆
Found in Text Mining only
Cholangitis Sclerosing Associate 38302916
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 38302916
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 31560077
★☆☆☆☆
Found in Text Mining only