Gene Gene information from NCBI Gene database.
Entrez ID 53349
Gene name Zinc finger FYVE-type containing 1
Gene symbol ZFYVE1
Synonyms (NCBI Gene)
DFCP1PPP1R172SR3TAFF1ZNFN2A1
Chromosome 14
Chromosome location 14q24.2
Summary The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to
miRNA miRNA information provided by mirtarbase database.
350
miRTarBase ID miRNA Experiments Reference
MIRT018968 hsa-miR-335-5p Microarray 18185580
MIRT046077 hsa-miR-125b-5p CLASH 23622248
MIRT1512227 hsa-miR-1272 CLIP-seq
MIRT1512228 hsa-miR-1324 CLIP-seq
MIRT1512229 hsa-miR-145 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000407 Component Phagophore assembly site IDA 23455425, 33499712
GO:0000407 Component Phagophore assembly site IEA
GO:0005515 Function Protein binding IPI 19389623, 30970241, 31293035, 32296183, 35551511
GO:0005545 Function 1-phosphatidylinositol binding IBA
GO:0005545 Function 1-phosphatidylinositol binding IDA 11256955
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605471 13180 ENSG00000165861
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HBF4
Protein name Zinc finger FYVE domain-containing protein 1 (Double FYVE-containing protein 1) (SR3) (Tandem FYVE fingers-1)
Protein function Plays a role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:30970241). Regulates the morphology, size and distribution of LDs (PubMed:30970241, PubMed:31293035). Mediat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01363 FYVE 593 659 FYVE zinc finger Domain
PF01363 FYVE 710 775 FYVE zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Highly expressed in heart. Also detected in the testis. {ECO:0000269|PubMed:11024279, ECO:0000269|PubMed:11256955}.; TISSUE SPECIFICITY: [Isoform 1]: Expressed in all tissues examined, including, brain, placenta, lung, liv
Sequence
MSAQTSPAEKGLNPGLMCQESYACSGTDEAIFECDECCSLQCLRCEEELHRQERLRNHER
IRLKPGHVPYCDLCKGLSGHLPGVRQRAIVRCQTCKINLCLECQKRTHSGGNKRRHPVTV
YNVSNLQESLEAEEMDEETKRKKMTEKVVSFLLVDENEEIQVTNEEDFIRKLDCKPDQHL
KVVSIFGNTGDGKSHTLNHTFFYGREVFKTSPTQESCTVGVWAAYDPVHKVAVIDTEGLL
GATVNLSQRTRLLLKVLAISDLVIYRTHADRLHNDLFKFLGDASEAYLKHFTKELKATTA
RCGLDVPLSTLGPAVIIFHETVHTQLLGSDHPSEVPEKLIQDRFRKLGRFPEAFSSIHYK
GTRTYNPPTDFSGLRRALEQLLENNTTRSPRHPGVIFKALKALSDRFSGEIPDDQMAHSS
FFPDEYFTCSSLCLSCGVGCKKSMNHGKEGVPHEAKSRCRYSHQYDNRVYTCKACYERGE
EVSVVPKTSASTDSPWMGLAKYAWSGYVIECPNCGVVYRSRQYWFGNQDPVDTVVRTEIV
HVWPGTDGFLKDNNNAAQRLLDGMNFMAQSVSELSLGPTKAVTSWLTDQIAPAYWRPNSQ
ILSCNKCATSFKDNDTKHHCRACGEGFCDSCSSKTRPVPERGWGPAPVRVCDNCYEARN
V
QLAVTEAQVDDEGGTLIARKVGEAVQNTLGAVVTAIDIPLGLVKDAARPAYWVPDHEILH
CHNCRKEFSIKLSKHHCRACGQGFCDECSHDRRAVPSRGWDHPVRVCFNCNKKPG
DL
Sequence length 777
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
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
KIDNEY CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Autoimmune Diseases Associate 34143178
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Associate 34298938
★☆☆☆☆
Found in Text Mining only
Heart Diseases Associate 23280630
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 36830707
★☆☆☆☆
Found in Text Mining only