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Aliases for ZFYVE1 Gene

Aliases for ZFYVE1 Gene

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

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. Diseases associated with ZFYVE1 include Syndromic X-Linked Intellectual Disability Snyder Type. Among its related pathways are Autophagy - animal and Autophagy Pathway. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding and phosphatidylinositol-3,4-bisphosphate binding.

Gene Wiki entry for ZFYVE1 Gene

Additional gene information for ZFYVE1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZFYVE1 Gene

Genomics for ZFYVE1 Gene

GeneHancer (GH) Regulatory Elements for ZFYVE1 Gene

Promoters and enhancers for ZFYVE1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I073025 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 191 2.5 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A YBX1 YY1 ZNF766 ZFYVE1 RBM25 DCAF4 ELMSAN1 PSEN1 ZNF410 LOC101928123 GC14P073016 LOC105370560
GH14I072986 Promoter 0.7 EPDnew 550.3 +40.2 40192 0.1 RFX1 CREB1 ZFYVE1 RPS12P1 GC14M073010
GH14I072983 Promoter 0.5 EPDnew 561.1 +43.8 43830 0.1 ZFYVE1 DCAF4 RPS12P1 GC14M073010
GH14I073057 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 -31.4 -31412 3 PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B RBM25 LOC105370560 ZNF410 ELMSAN1 LOC101928123 NUMB LOC100420966 ZFYVE1 PAPLN DCAF4
GH14I073135 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.7 -109.8 -109817 2.4 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 BRCA1 ZNF48 ETS1 PSEN1 RBM25 ELMSAN1 LOC101928123 PNMA1 ENSG00000258891 DNAL1 LIN52 ZNF410 ENSG00000258443
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZFYVE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZFYVE1 gene promoter:

Genomic Locations for ZFYVE1 Gene

Genomic Locations for ZFYVE1 Gene
57,768 bases
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:
    Recommended name:
    Zinc finger FYVE domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • J3KNL9
    • Q8WYX7
    • Q96K57
    • Q9BXP9
    • Q9HCI3

    Protein attributes for ZFYVE1 Gene

    777 amino acids
    Molecular mass:
    87176 Da
    Quaternary structure:
    • Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE-type zinc finger.
    • Sequence=AAL55826.1; Type=Frameshift; Positions=480; Evidence={ECO:0000305}; Sequence=BAB13415.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55085.1; Type=Erroneous termination; Positions=760; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZFYVE1 Gene


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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZFYVE1 Gene

Suggested Antigen Peptide Sequences for ZFYVE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ZFYVE1 Gene

Function for ZFYVE1 Gene

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:0043325 phosphatidylinositol-3,4-bisphosphate binding IDA 11804589
genes like me logo Genes that share ontologies with ZFYVE1: view

Phenotypes for ZFYVE1 Gene

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

Animal Model Products

CRISPR Products

miRNA for ZFYVE1 Gene

miRTarBase miRNAs that target ZFYVE1

Inhibitory RNA Products

No data available for Molecular function , 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. Endoplasmic reticulum. Note=Resides predominantly in the cisternal stacks of the Golgi. Colocalizes with TRIM13 on the perinuclear endoplasmic reticulum.

Subcellular locations from

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
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1
lysosome 1
endosome 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:0005776 autophagosome IDA 22456507
GO:0005783 endoplasmic reticulum IEA,IDA 11739631
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IEA,IDA 11256955
genes like me logo Genes that share ontologies with ZFYVE1: view

Pathways & Interactions for ZFYVE1 Gene

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

Pathways by source for ZFYVE1 Gene

1 KEGG pathway for ZFYVE1 Gene
1 R&D Systems 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
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

Unigene Clusters for ZFYVE1 Gene

Zinc finger, FYVE domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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: - - -
SP6: -

Relevant External Links for ZFYVE1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ZFYVE1 Gene

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

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, PaxDb, MaxQB, and MOPED for ZFYVE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZFYVE1 Gene:


SOURCE GeneReport for Unigene cluster for ZFYVE1 Gene:


mRNA Expression by UniProt/SwissProt for ZFYVE1 Gene:

Tissue specificity: Isoform 1 is expressed in all tissues examined, including, brain, placenta, lung, liver, skeletal muscle, pancreas and kidney. Isoform 1 and isoform 2 are highly expressed in heart. Isoform 2 is also detected in the testis.

Evidence on tissue expression from TISSUES for ZFYVE1 Gene

  • Nervous system(4.8)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with ZFYVE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
(Pan troglodytes)
Mammalia ZFYVE1 33 34
  • 99.44 (n)
(Monodelphis domestica)
Mammalia ZFYVE1 34
  • 95 (a)
(Canis familiaris)
Mammalia ZFYVE1 33 34
  • 92.41 (n)
(Bos Taurus)
Mammalia ZFYVE1 33 34
  • 91.72 (n)
(Mus musculus)
Mammalia Zfyve1 33 16 34
  • 90.18 (n)
(Rattus norvegicus)
Mammalia Zfyve1 33
  • 89.45 (n)
(Ornithorhynchus anatinus)
Mammalia ZFYVE1 34
  • 64 (a)
(Gallus gallus)
Aves ZFYVE1 33 34
  • 80.84 (n)
(Anolis carolinensis)
Reptilia ZFYVE1 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve1 33
  • 74.09 (n)
Str.6293 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16326 33
(Danio rerio)
Actinopterygii ZFYVE1 34
  • 76 (a)
zfyve1 33
  • 69.37 (n)
Dr.18806 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002036 33
  • 55.03 (n)
Species where no ortholog for ZFYVE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for ZFYVE1 (if available)
Gene Tree for ZFYVE1 (if available)

Paralogs for ZFYVE1 Gene Pseudogenes for ZFYVE1 Gene

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

No data available for Paralogs for ZFYVE1 Gene

Variants for ZFYVE1 Gene

Sequence variations from dbSNP and Humsavar for ZFYVE1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000001815 -- 73,025,775(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000007796 -- 73,018,040(-) C/A/T genic_upstream_transcript_variant, intron_variant
rs1000023711 -- 72,983,279(-) C/T intron_variant
rs1000079766 -- 73,018,379(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000137944 -- 72,983,015(-) T/C intron_variant

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

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

Disorders for ZFYVE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZFYVE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
syndromic x-linked intellectual disability snyder type
  • mental retardation, x-linked, snyder-robinson type
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZFYVE1

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

No data available for 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 22 58
  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 58
  3. TRIM13 regulates ER stress induced autophagy and clonogenic ability of the cells. (PMID: 22178386) Tomar D … Singh R (Biochimica et biophysica acta 2012) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ZFYVE1 Gene

Sources for ZFYVE1 Gene

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