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Aliases for ZFYVE9 Gene

Aliases for ZFYVE9 Gene

  • Zinc Finger FYVE-Type Containing 9 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 173 2 3
  • Zinc Finger, FYVE Domain Containing 9 2 3
  • Smad Anchor For Receptor Activation 3 4
  • Novel Serine Protease 3 4
  • MADHIP 3 4
  • SMADIP 3 4
  • Sara 3 4
  • NSP 3 4
  • MAD, Mothers Against Decapentaplegic Homolog (Drosophila) Interacting Protein, Receptor Activation Anchor 2
  • MAD, Mothers Against Decapentaplegic Homolog Interacting Protein, Receptor Activation Anchor 3
  • Mothers Against Decapentaplegic Homolog-Interacting Protein 4
  • Zinc Finger FYVE Domain-Containing Protein 9 3
  • Receptor Activation Anchor 4
  • MADH-Interacting Protein 3
  • Madh-Interacting Protein 4
  • PPP1R173 3
  • HSARA 4

External Ids for ZFYVE9 Gene

Previous HGNC Symbols for ZFYVE9 Gene

  • MADHIP

Previous GeneCards Identifiers for ZFYVE9 Gene

  • GC01P051978
  • GC01P052320
  • GC01P052394
  • GC01P052380
  • GC01P052608
  • GC01P050725

Summaries for ZFYVE9 Gene

Entrez Gene Summary for ZFYVE9 Gene

  • This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneCards Summary for ZFYVE9 Gene

ZFYVE9 (Zinc Finger FYVE-Type Containing 9) is a Protein Coding gene. Among its related pathways are TGF-beta receptor signaling activates SMADs and SMAD Signaling Network. GO annotations related to this gene include serine-type peptidase activity and 1-phosphatidylinositol binding. An important paralog of this gene is ZFYVE16.

UniProtKB/Swiss-Prot for ZFYVE9 Gene

  • Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization.

Gene Wiki entry for ZFYVE9 Gene

Additional gene information for ZFYVE9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZFYVE9 Gene

Genomics for ZFYVE9 Gene

Regulatory Elements for ZFYVE9 Gene

Enhancers for ZFYVE9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H052053 1.2 ENCODE 11.6 -86.3 -86266 4 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 LOC100190934 ENSG00000230953 ZCCHC11 ENSG00000223390 KTI12 ZFYVE9 TXNDC12 TTC39A TXNDC12-AS1 GC01M052055
GH01H052842 1.1 ENCODE 11.4 +701.7 701741 3 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF143 ZNF207 SP3 MXD4 REST ZCCHC11 PRPF38A NDC1 MAGOH ECHDC2 ENSG00000272100 ENSG00000230953 ZFYVE9 ZYG11B ORC1
GH01H052697 1.1 ENCODE 11.4 +556.1 556056 2 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000228838 ZCCHC11 MAGOH LOC100652967 TXNDC12-AS1 ENSG00000226938 SLC25A6P3 GAPDHP51 KTI12 PRPF38A
GH01H051263 1.1 Ensembl ENCODE 10.3 -877.5 -877537 2 ATF1 ZNF2 ZNF121 GATA2 ZSCAN5C RCOR1 ZNF362 ZEB2 PRDM6 IKZF1 LINC01562 ZFYVE9 RNF11 ENSG00000236434 RPS2P8
GH01H052237 0.7 ENCODE 12.4 +96.5 96464 1 SMARCE1 JUN BACH1 CEBPG ZNF83 FOSL1 JUND IKZF1 HMBOX1 NBN CC2D1B ZFYVE9 GC01P052251 PIR48588
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZFYVE9 on UCSC Golden Path with GeneCards custom track

Promoters for ZFYVE9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006370 406 2200 HDGF FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 ZNF766 ZNF143 ZNF207

Genomic Location for ZFYVE9 Gene

Chromosome:
1
Start:
52,142,094 bp from pter
End:
52,346,686 bp from pter
Size:
204,593 bases
Orientation:
Plus strand

Genomic View for ZFYVE9 Gene

Genes around ZFYVE9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFYVE9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFYVE9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFYVE9 Gene

Proteins for ZFYVE9 Gene

  • Protein details for ZFYVE9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95405-ZFYV9_HUMAN
    Recommended name:
    Zinc finger FYVE domain-containing protein 9
    Protein Accession:
    O95405
    Secondary Accessions:
    • Q5T0F6
    • Q5T0F7
    • Q9UNE1
    • Q9Y5R7

    Protein attributes for ZFYVE9 Gene

    Size:
    1425 amino acids
    Molecular mass:
    156403 Da
    Quaternary structure:
    • Interacts (via the SBD region) with SMAD2; the interaction recruits SMAD2 to the TGF-beta receptor and is disrupted by phosphorylation of SMAD2 upon TGF-beta receptor activation. Interacts with SMAD3. Interacts with TGFBR1 and TGFBR2; the interaction recruits SMAD2 to the TGF-beta receptor. Interacts with PML.
    SequenceCaution:
    • Sequence=AAC99462.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAD31694.1; Type=Frameshift; Positions=1243; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZFYVE9 Gene

    Alternative splice isoforms for ZFYVE9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFYVE9 Gene

Post-translational modifications for ZFYVE9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZFYVE9 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ZFYVE9 (SARA)
  • Abcam antibodies for ZFYVE9

No data available for DME Specific Peptides for ZFYVE9 Gene

Domains & Families for ZFYVE9 Gene

Gene Families for ZFYVE9 Gene

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

Suggested Antigen Peptide Sequences for ZFYVE9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95405

UniProtKB/Swiss-Prot:

ZFYV9_HUMAN :
  • The SMAD binding domain (SBD) interacts with the MH2 domains of SMAD2 or SMAD3.
Domain:
  • The SMAD binding domain (SBD) interacts with the MH2 domains of SMAD2 or SMAD3.
  • The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P.
genes like me logo Genes that share domains with ZFYVE9: view

Function for ZFYVE9 Gene

Molecular function for ZFYVE9 Gene

UniProtKB/Swiss-Prot Function:
Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization.

Gene Ontology (GO) - Molecular Function for ZFYVE9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9865696
GO:0005545 1-phosphatidylinositol binding IDA 11877415
GO:0008236 serine-type peptidase activity NAS 9582421
GO:0019904 protein domain specific binding IPI 15231848
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFYVE9: view
genes like me logo Genes that share phenotypes with ZFYVE9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZFYVE9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFYVE9 Gene

Localization for ZFYVE9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFYVE9 Gene

Cytoplasm. Early endosome membrane.

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 ZFYVE9 gene
Compartment Confidence
cytosol 5
endosome 5
nucleus 3
extracellular 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFYVE9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome NAS 12809483
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ZFYVE9: view

Pathways & Interactions for ZFYVE9 Gene

genes like me logo Genes that share pathways with ZFYVE9: view

SIGNOR curated interactions for ZFYVE9 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ZFYVE9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006897 endocytosis NAS 12809483
GO:0007179 transforming growth factor beta receptor signaling pathway TAS --
GO:0007183 SMAD protein complex assembly IDA 9865696
GO:0007184 SMAD protein import into nucleus IMP 9865696
genes like me logo Genes that share ontologies with ZFYVE9: view

Drugs & Compounds for ZFYVE9 Gene

(5) Drugs for ZFYVE9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for ZFYVE9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZFYVE9: view

Transcripts for ZFYVE9 Gene

Unigene Clusters for ZFYVE9 Gene

Zinc finger, FYVE domain containing 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ZFYVE9
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ZFYVE9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for ZFYVE9 Gene

GeneLoc Exon Structure for
ZFYVE9
ECgene alternative splicing isoforms for
ZFYVE9

Expression for ZFYVE9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZFYVE9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZFYVE9 Gene

This gene is overexpressed in Adrenal (55.2) and Adipocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZFYVE9 Gene



Protein tissue co-expression partners for ZFYVE9 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZFYVE9 Gene:

ZFYVE9

SOURCE GeneReport for Unigene cluster for ZFYVE9 Gene:

Hs.532345

mRNA Expression by UniProt/SwissProt for ZFYVE9 Gene:

O95405-ZFYV9_HUMAN
Tissue specificity: Ubiquitous. In the brain found primarily in the cerebrovascular smooth muscle cells and reactive astrocytes.

Evidence on tissue expression from TISSUES for ZFYVE9 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with ZFYVE9: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFYVE9 Gene

Orthologs for ZFYVE9 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ZFYVE9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFYVE9 33 34
  • 99.49 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE9 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE9 33 34
  • 92.56 (n)
mouse
(Mus musculus)
Mammalia Zfyve9 33 16 34
  • 91.94 (n)
dog
(Canis familiaris)
Mammalia ZFYVE9 33 34
  • 91.82 (n)
rat
(Rattus norvegicus)
Mammalia Zfyve9 33
  • 87.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ZFYVE9 33 34
  • 77.38 (n)
lizard
(Anolis carolinensis)
Reptilia ZFYVE9 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve9 33
  • 70.7 (n)
Str.7299 33
African clawed frog
(Xenopus laevis)
Amphibia madhip-A 33
zebrafish
(Danio rerio)
Actinopterygii zfyve9a 33 34
  • 70.73 (n)
CR762408.1 34
  • 55 (a)
ManyToMany
BX511174.1 34
  • 55 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13130 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAB1 34
  • 6 (a)
OneToMany
Species where no ortholog for ZFYVE9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 ZFYVE9 Gene

ENSEMBL:
Gene Tree for ZFYVE9 (if available)
TreeFam:
Gene Tree for ZFYVE9 (if available)

Paralogs for ZFYVE9 Gene

Paralogs for ZFYVE9 Gene

(1) SIMAP similar genes for ZFYVE9 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ZFYVE9: view

Variants for ZFYVE9 Gene

Sequence variations from dbSNP and Humsavar for ZFYVE9 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000018335 -- 52,295,168(+) CCAGC(C/T)TGGGT intron-variant
rs1000023477 -- 52,170,087(+) AATAT(G/T)CAGTT intron-variant
rs1000034835 -- 52,300,960(+) GCTCA(A/G)GCAAT intron-variant
rs1000042895 -- 52,342,998(+) ACCTC(C/T)CAGGT intron-variant
rs1000046692 -- 52,173,113(+) TGCCC(A/G)TTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ZFYVE9 Gene

Variant ID Type Subtype PubMed ID
dgv273n54 CNV gain 21841781
dgv274n54 CNV gain 21841781
esv1012300 CNV deletion 17803354
esv25536 CNV loss 19812545
esv2669236 CNV deletion 23128226
esv2748118 CNV deletion 23290073
esv3586047 CNV loss 21293372
esv3586048 CNV loss 21293372
esv3586050 CNV loss 21293372
nsv1137757 CNV deletion 24896259
nsv1137758 CNV deletion 24896259
nsv1141744 CNV insertion 24896259
nsv546232 CNV loss 21841781
nsv546234 CNV gain 21841781
nsv546235 CNV gain+loss 21841781
nsv546237 CNV gain 21841781
nsv546238 CNV loss 21841781
nsv819763 CNV gain 19587683
nsv822553 CNV loss 20364138
nsv855 CNV insertion 18451855
nsv945945 CNV duplication 23825009
nsv945946 CNV duplication 23825009

Variation tolerance for ZFYVE9 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.27; 70.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZFYVE9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFYVE9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFYVE9 Gene

Disorders for ZFYVE9 Gene

Relevant External Links for ZFYVE9

Genetic Association Database (GAD)
ZFYVE9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZFYVE9

No disorders were found for ZFYVE9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZFYVE9 Gene

Publications for ZFYVE9 Gene

  1. SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor. (PMID: 9865696) Tsukazaki T … Wrana JL (Cell 1998) 2 3 4 22 60
  2. Cytoplasmic PML function in TGF-beta signalling. (PMID: 15356634) Lin HK … Pandolfi PP (Nature 2004) 3 4 22 60
  3. Early endosomal regulation of Smad-dependent signaling in endothelial cells. (PMID: 11877415) Panopoulou E … Fotsis T (The Journal of biological chemistry 2002) 3 4 22 60
  4. Smad3 allostery links TGF-beta receptor kinase activation to transcriptional control. (PMID: 12154125) Qin BY … Lin K (Genes & development 2002) 3 4 22 60
  5. Identification of a novel serine protease-like molecule in human brain. (PMID: 9582421) Meckelein B … Abraham CR (Brain research. Molecular brain research 1998) 3 4 22 60

Products for ZFYVE9 Gene

Sources for ZFYVE9 Gene

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