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Gene Gene information from NCBI Gene database.
Entrez ID 57590
Gene name WD repeat and FYVE domain containing 1
Gene symbol WDFY1
Synonyms (NCBI Gene)
FENS-1FENS1WDF1ZFYVE17
Chromosome 2
Chromosome location 2q36.1
Summary The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstra
miRNA miRNA information provided by mirtarbase database.
570 Show/Hide all (570)
miRTarBase ID miRNA Experiments Reference
MIRT001486 hsa-miR-155-5p pSILAC 18668040
MIRT001322 hsa-miR-1-3p pSILAC 18668040
MIRT001486 hsa-miR-155-5p Proteomics;Other 18668040
MIRT001322 hsa-miR-1-3p Microarray 18668037
MIRT001322 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25736436, 28514442, 33961781
GO:0005545 Function 1-phosphatidylinositol binding IDA 11739631
GO:0005634 Component Nucleus IDA 11739631
GO:0005730 Component Nucleolus IDA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618080 20451 ENSG00000085449
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWB7
Protein name WD repeat and FYVE domain-containing protein 1 (FYVE domain-containing protein localized to endosomes 1) (FENS-1) (Phosphoinositide-binding protein 1) (WD40- and FYVE domain-containing protein 1) (Zinc finger FYVE domain-containing protein 17)
Protein function Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 189 → 227 WD domain, G-beta repeat Repeat
PF00400 WD40 15 → 51 WD domain, G-beta repeat Repeat
PF00400 WD40 357 → 394 WD domain, G-beta repeat Repeat
PF00400 WD40 230 → 270 WD domain, G-beta repeat Repeat
PF01363 FYVE 279 → 353 FYVE zinc finger Domain
Sequence
MAAEIHSRPQSSRPVLLSKIEGHQDAVTAALLIPKEDGVITASEDRTIRVWLKRDSGQYW
PSIYHTMASPCSAMAYHHDSRRIFVGQDNGAVMEFHVSEDFNKMNFIKTYPAHQNRVSAI
IFSLATEWVISTGHDKCVSWMCTRSGNMLGRHFFTSWASCLQYDFDTQYAFVGDYSGQIT
LLKLEQNTCSVITTLKGHEGSVACLWWDPIQRLLFSGASDNSIIMWDIGGRKGRTLLLQG
HHDKVQSLCYLQLTRQLVSCSSDGGIAVWN
MDVSREEAPQWLESDSCQKCEQPFFWNIKQ
MWDTKTLGLRQHHCRKCGQAVCGKCSSKRSSYPVMGFEFQVRVCDSCYDSIKD
EDRTSLA
TFHEGKHNISHMSMDIARGLMVTCGTDRIVKIWD
MTPVVGCSLATGFSPH
Sequence length 410
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Gastric cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations