Aliases for ZFYVE1 Gene
Aliases for ZFYVE1 Gene
External Ids for ZFYVE1 Gene
- HGNC: 13180
- Entrez Gene: 53349
- Ensembl: ENSG00000165861
- OMIM: 605471
- UniProtKB: Q9HBF4
Previous HGNC Symbols for ZFYVE1 Gene
- ZNFN2A1
Previous GeneCards Identifiers for ZFYVE1 Gene
- GC14M067231
- GC14M071426
- GC14M072505
- GC14M073436
- GC14M053602
Summaries 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.
Additional gene information for ZFYVE1 Gene
- Monarch Initiative
- Search for ZFYVE1 at DataMed
- Search for ZFYVE1 at HumanCyc
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
- 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:
Regulatory Element Products
Genomic Locations for ZFYVE1 Gene
Genomic Locations for ZFYVE1 Gene
- chr14:72,969,445-73,027,212
- (GRCh38/hg38)
- Size:
- 57,768 bases
- Orientation:
- Minus strand
- chr14:73,436,159-73,493,920
- (GRCh37/hg19)
Genomic View for ZFYVE1 Gene
Genes around ZFYVE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q24.2 by Ensembl
- 14q24.2 by Entrez Gene
- 14q24.2 by HGNC
ZFYVE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- J3KNL9
- Q8WYX7
- Q96K57
- Q9BXP9
- Q9HCI3
Protein attributes for ZFYVE1 Gene
- Size:
- 777 amino acids
- Molecular mass:
- 87176 Da
- Quaternary structure:
-
- Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through its FYVE-type zinc finger.
- SequenceCaution:
-
- 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};
Protein Expression for ZFYVE1 Gene
Post-translational modifications for ZFYVE1 Gene
Other Protein References for ZFYVE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ZFYVE1
-
Abcam antibodies for ZFYVE1
- Invitrogen Antibodies for ZFYVE1
- GeneTex ZFYVE1 antibody for ZFYVE1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ZFYVE1
Protein Products
-
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-
Quality Products:
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Abcam proteins for ZFYVE1
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for ZFYVE1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ZFYVE1 Gene
Function for ZFYVE1 Gene
Phenotypes From GWAS Catalog 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 |
Phenotypes for ZFYVE1 Gene
- GenomeRNAi human phenotypes for ZFYVE1:
Animal Model Products
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miRNA for ZFYVE1 Gene
- miRTarBase miRNAs that target ZFYVE1
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ZFYVE1
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for ZFYVE1
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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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| cytosol | 3 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| lysosome | 1 |
| endosome | 1 |
- Endoplasmic reticulum (3)
| 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 |
Pathways & Interactions for ZFYVE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Autophagy - animal | ||
| 2 | Autophagy Pathway | ||
Pathways by source for ZFYVE1 Gene
1 KEGG pathway for ZFYVE1 Gene
1 R&D Systems pathway for ZFYVE1 Gene
Interacting Proteins for ZFYVE1 Gene
Selected Interacting proteins:
ENSP00000450742
Q9HBF4-ZFYV1_HUMAN
for ZFYVE1 Gene via
STRING
IID
MINT
UniProtKB
| 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 |
No data available for SIGNOR curated interactions for ZFYVE1 Gene
Transcripts for ZFYVE1 Gene
mRNA/cDNA for ZFYVE1 Gene
- (5) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (135) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZFYVE1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ZFYVE1
- genomics-online: gRNA clones - Search results for available ZFYVE1 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZFYVE1
- GenScript: Design CRISPR guide RNA sequences for ZFYVE1
miRNA Products
- Search ViGene Biosciences for ZFYVE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ZFYVE1
- Browse OriGene Inhibitory RNA Products For ZFYVE1
- genomics-online: shRNA clones - Search results for available ZFYVE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ZFYVE1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ZFYVE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ZFYVE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ZFYVE1
- genomics-online: cdna clones - Search results for available ZFYVE1 gene related products
- orf clones - Search results for available ZFYVE1 gene related products
- Applied Biological Materials Clones for ZFYVE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
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| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||
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| SP6: | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: |
Expression 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:
ZFYVE1SOURCE GeneReport for Unigene cluster for ZFYVE1 Gene:
Hs.335106mRNA Expression by UniProt/SwissProt for ZFYVE1 Gene:
Q9HBF4-ZFYV1_HUMAN
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)
Primer Products
-
OriGene qPCR primer pairs for ZFYVE1
-
OriGene qPCR primer pairs and template standards for ZFYVE1
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZFYVE1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ZFYVE1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ZFYVE1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ZFYVE1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Zfyve1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Zfyve1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ZFYVE1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZFYVE1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ZFYVE1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | zfyve1 33 |
|
||
| Str.6293 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16326 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ZFYVE1 34 |
|
OneToOne | |
| zfyve1 33 |
|
||||
| Dr.18806 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002036 33 |
|
- 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)
Paralogs for ZFYVE1 Gene
Pseudogenes.org Pseudogenes for ZFYVE1 Gene
No data available for Paralogs for ZFYVE1 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFYVE1 Gene
Disorders for ZFYVE1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| syndromic x-linked intellectual disability snyder type |
|
|
Search ZFYVE1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ZFYVE1
No data available for UniProtKB/Swiss-Prot and Genatlas for ZFYVE1 Gene
Publications for ZFYVE1 Gene
- 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
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ZFYVE1
- antibodies-online: Search results for 39 available ZFYVE1 Antibodies ranked by validation data
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Sources for ZFYVE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
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