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 the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] See more...

Aliases for ZFYVE1 Gene

Aliases for ZFYVE1 Gene

  • Zinc Finger FYVE-Type Containing 1 2 3 5
  • DFCP1 2 3 4
  • TAFF1 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 172 2 3
  • Zinc Finger FYVE Domain-Containing Protein 1 3 4
  • Zinc Finger, FYVE Domain Containing 1 2 3
  • Double FYVE-Containing Protein 1 3 4
  • PPP1R172 2 3
  • KIAA1589 2 4
  • ZNFN2A1 3 4
  • SR3 3 4
  • Zinc Finger Protein, Subfamily 2A (FYVE Domain Containing), 1 2
  • Zinc Finger Protein, Subfamily 2A, Member 1 3
  • Phosphoinositide-Binding Protein SR3 3
  • Tandem FYVE Fingers-1 Protein 3
  • Tandem FYVE Fingers-1 4
  • ZFYVE1 5

External Ids for ZFYVE1 Gene

Previous HGNC Symbols for ZFYVE1 Gene

  • ZNFN2A1

Previous GeneCards Identifiers for ZFYVE1 Gene

  • GC14M067231
  • GC14M071426
  • GC14M072505
  • GC14M073436
  • GC14M053602

Summaries for ZFYVE1 Gene

Entrez Gene Summary for ZFYVE1 Gene

  • 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 the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for ZFYVE1 Gene

ZFYVE1 (Zinc Finger FYVE-Type Containing 1) is a Protein Coding gene. Among its related pathways are Autophagy - animal. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is ZFYVE26.

UniProtKB/Swiss-Prot Summary for ZFYVE1 Gene

  • 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:31293035, PubMed:30970241). Mediates the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts by forming a complex with RAB18 and ZW10 (PubMed:30970241). Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through FYVE-type zinc finger (PubMed:11739631, PubMed:11256955).

Gene Wiki entry for ZFYVE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFYVE1 Gene

Genomics for ZFYVE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZFYVE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFYVE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFYVE1

Top Transcription factor binding sites by QIAGEN in the ZFYVE1 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • p300
  • Pbx1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • RelA
  • SRF
  • SRF (504 AA)
  • SRY

Genomic Locations for ZFYVE1 Gene

Genomic Locations for ZFYVE1 Gene
chr14:72,969,445-73,027,136
(GRCh38/hg38)
Size:
57,692 bases
Orientation:
Minus strand
chr14:73,436,159-73,493,920
(GRCh37/hg19)
Size:
57,762 bases
Orientation:
Minus strand

Genomic View for ZFYVE1 Gene

Genes around ZFYVE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFYVE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFYVE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFYVE1 Gene

Proteins for ZFYVE1 Gene

  • Protein details for ZFYVE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBF4-ZFYV1_HUMAN
    Recommended name:
    Zinc finger FYVE domain-containing protein 1
    Protein Accession:
    Q9HBF4
    Secondary Accessions:
    • J3KNL9
    • Q8WYX7
    • Q96K57
    • Q9BXP9
    • Q9HCI3

    Protein attributes for ZFYVE1 Gene

    Size:
    777 amino acids
    Molecular mass:
    87176 Da
    Quaternary structure:
    • Interacts with RAB18 (in GTP-bound form) (PubMed:31293035, PubMed:30970241). Interacts with BSCL2 in a RAB18-dependent manner (PubMed:30970241). Interacts with ZW10 (PubMed:30970241).
    SequenceCaution:
    • Sequence=AAL55826.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13415.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55085.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZFYVE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFYVE1 Gene

Post-translational modifications for ZFYVE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZFYVE1 Gene

Domains & Families for ZFYVE1 Gene

Gene Families for ZFYVE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZFYVE1 Gene

InterPro:
Blocks:
  • Zn-finger, FYVE type
ProtoNet:

Suggested Antigen Peptide Sequences for ZFYVE1 Gene

GenScript: Design optimal peptide antigens:
  • Tandem FYVE fingers-1 (ZFYV1_HUMAN)
genes like me logo Genes that share domains with ZFYVE1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ZFYVE1 Gene

Function for ZFYVE1 Gene

Molecular function for ZFYVE1 Gene

UniProtKB/Swiss-Prot 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:31293035, PubMed:30970241). Mediates the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts by forming a complex with RAB18 and ZW10 (PubMed:30970241). Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through FYVE-type zinc finger (PubMed:11739631, PubMed:11256955).

Phenotypes From GWAS Catalog for ZFYVE1 Gene

Gene Ontology (GO) - Molecular Function for ZFYVE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19389623
GO:0005545 1-phosphatidylinositol binding IDA 11256955
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 11804589
GO:0008270 zinc ion binding NAS 11739631
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 31293035
genes like me logo Genes that share ontologies with ZFYVE1: view
genes like me logo Genes that share phenotypes with ZFYVE1: view

Animal Model Products

CRISPR Products

miRNA for ZFYVE1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFYVE1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFYVE1 Gene

Localization for ZFYVE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFYVE1 Gene

Golgi apparatus, Golgi stack. Golgi apparatus. Endoplasmic reticulum. Lipid droplet. Preautophagosomal structure. Mitochondrion. Note=Resides predominantly in the cisternal stacks of the Golgi (PubMed:11256955). Colocalizes with TRIM13 on the perinuclear endoplasmic reticulum (PubMed:22178386). During starvation conditions, localizes to omegasomes which are endoplasmic reticulum connected strutures at the origin of preautophagosomal structures (PubMed:31293035, PubMed:25876663). Localizes to lipid droplets in the presence of oleic acid (PubMed:31293035, PubMed:30970241). {ECO:0000269 PubMed:11256955, ECO:0000269 PubMed:22178386, ECO:0000269 PubMed:30970241, ECO:0000269 PubMed:31293035}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZFYVE1 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
golgi apparatus 5
cytosol 4
nucleus 3
plasma membrane 2
cytoskeleton 2
endosome 2
lysosome 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFYVE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IDA 23455425
GO:0005739 mitochondrion IDA 25876663
GO:0005776 autophagosome IDA 22456507
GO:0005783 endoplasmic reticulum IEA,IDA 11739631
GO:0005789 endoplasmic reticulum membrane IDA 30970241
genes like me logo Genes that share ontologies with ZFYVE1: view

Pathways & Interactions for ZFYVE1 Gene

PathCards logo

SuperPathways for ZFYVE1 Gene

SuperPathway Contained pathways
1 Autophagy - animal
genes like me logo Genes that share pathways with ZFYVE1: view

Pathways by source for ZFYVE1 Gene

1 KEGG pathway for ZFYVE1 Gene

Gene Ontology (GO) - Biological Process for ZFYVE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009267 cellular response to starvation IDA 25578879
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0016236 macroautophagy IDA 25578879
GO:0140042 lipid droplet formation IMP 30970241
genes like me logo Genes that share ontologies with ZFYVE1: view

No data available for SIGNOR curated interactions for ZFYVE1 Gene

Drugs & Compounds for ZFYVE1 Gene

No Compound Related Data Available

Transcripts for ZFYVE1 Gene

mRNA/cDNA for ZFYVE1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFYVE1

Alternative Splicing Database (ASD) splice patterns (SP) for ZFYVE1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6: -
SP7:

Relevant External Links for ZFYVE1 Gene

GeneLoc Exon Structure for
ZFYVE1

Expression for ZFYVE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFYVE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for ZFYVE1 Gene

This gene is overexpressed in Testis (11.1), Retina (10.4), and Spinal cord (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFYVE1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFYVE1

SOURCE GeneReport for Unigene cluster for ZFYVE1 Gene:

Hs.335106

mRNA Expression by UniProt/SwissProt for ZFYVE1 Gene:

Q9HBF4-ZFYV1_HUMAN
Tissue specificity: [Isoform 2]: Highly expressed in heart. Also detected in the testis.

Evidence on tissue expression from TISSUES for ZFYVE1 Gene

  • Nervous system(4.9)
  • Eye(4.3)
  • Skin(2.4)
  • Kidney(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with ZFYVE1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFYVE1 Gene

Orthologs for ZFYVE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZFYVE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZFYVE1 30 31
  • 99.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ZFYVE1 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ZFYVE1 30 31
  • 92.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZFYVE1 30 31
  • 91.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfyve1 30 17 31
  • 90.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfyve1 30
  • 89.45 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE1 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZFYVE1 30 31
  • 80.84 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ZFYVE1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zfyve1 30
  • 74.09 (n)
Str.6293 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16326 30
Zebrafish
(Danio rerio)
Actinopterygii ZFYVE1 31
  • 76 (a)
OneToOne
zfyve1 30
  • 69.37 (n)
Dr.18806 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002036 30
  • 55.03 (n)
Species where no ortholog for ZFYVE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZFYVE1 Gene

ENSEMBL:
Gene Tree for ZFYVE1 (if available)
TreeFam:
Gene Tree for ZFYVE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFYVE1: view image

Paralogs for ZFYVE1 Gene

Pseudogenes.org Pseudogenes for ZFYVE1 Gene

genes like me logo Genes that share paralogs with ZFYVE1: view

Variants for ZFYVE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFYVE1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
721846 Benign: not provided 72,998,208(-) G/T SYNONYMOUS_VARIANT
769400 Benign: not provided 73,024,044(-) G/A SYNONYMOUS_VARIANT
769864 Likely Benign: not provided 72,998,319(-) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ZFYVE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZFYVE1 Gene

Variant ID Type Subtype PubMed ID
esv3634896 CNV loss 21293372
esv3634897 CNV loss 21293372
esv3634898 CNV loss 21293372
nsv1035460 CNV gain 25217958
nsv1048734 CNV gain 25217958
nsv1049819 CNV gain 25217958
nsv1116032 CNV deletion 24896259
nsv1122912 CNV deletion 24896259
nsv1348 CNV deletion 18451855
nsv565050 CNV gain 21841781
nsv983842 CNV duplication 23825009

Variation tolerance for ZFYVE1 Gene

Residual Variation Intolerance Score: 8.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFYVE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFYVE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFYVE1 Gene

Disorders for ZFYVE1 Gene

No disorders were found for ZFYVE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZFYVE1 Gene

Publications for ZFYVE1 Gene

  1. Double FYVE-containing protein 1 (DFCP1): isolation, cloning and characterization of a novel FYVE finger protein from a human bone marrow cDNA library. (PMID: 11024279) Derubeis AR … Fisher LW (Gene 2000) 2 3 4 23
  2. Characterization of a novel phosphatidylinositol 3-phosphate-binding protein containing two FYVE fingers in tandem that is targeted to the Golgi. (PMID: 11256955) Cheung PC … Lucocq JM (The Biochemical journal 2001) 2 3 4
  3. The ER-Localized Protein DFCP1 Modulates ER-Lipid Droplet Contact Formation. (PMID: 30970241) Li D … Zhang H (Cell reports 2019) 3 4
  4. DFCP1 associates with lipid droplets. (PMID: 31293035) Gao G … Xu L (Cell biology international 2019) 3 4
  5. Cellular localization and tissue distribution of endogenous DFCP1 protein. (PMID: 25876663) Nanao T … Uchiyama Y (Biomedical research (Tokyo, Japan) 2015) 3 4

Products for ZFYVE1 Gene

  • Signalway Proteins for ZFYVE1

Sources for ZFYVE1 Gene