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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 HIV Life Cycle. 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

No data available for 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
GH01F052237 1.4 Ensembl ENCODE 12.4 +96.8 96756 2.5 HDGF PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CC2D1B ZCCHC11 ZFYVE9 GC01P052251 PIR48588
GH01F052240 0.5 Ensembl 12.4 +98.7 98707 0.4 SMARCE1 PKNOX1 MCM3 FEZF1 ZNF366 PBX2 IKZF1 GLIS1 PRDM10 SP7 ZFYVE9 GC01P052251 PIR48588
GH01F052138 0.5 ENCODE 0.8 -0.9 -931 4.7 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A ZNF48 ZNF2 ZNF121 GLIS2 RPS13P2 ENSG00000230953 ENSG00000266993 CC2D1B LOC100190934 GPX7 ZCCHC11 TXNDC12 ZFYVE9 PIR34571
GH01F052127 0.2 ENCODE 0.4 -14.4 -14431 0.1 CTCF ZNF654 TEAD1 REST ZNF2 RAD21 SMC3 ZNF143 ZNF18 ZFYVE9 PIR34571
GH01F052122 0.2 ENCODE 0.3 -19.6 -19566 0.7 SMARCA5 ESRRA PKNOX1 NRF1 ZNF121 IKZF1 ZNF24 NR2F6 ZBTB33 ZCCHC11 ZFYVE9 PIR34571
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000282481 606 2601 CREB3L1 ZFP64 ARID4B SIN3A ZNF48 ZNF2 GLIS2 ZNF143 ZNF263 MXD4

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

No data available for DME Specific Peptides for ZFYVE9 Gene

Domains & Families for ZFYVE9 Gene

Gene Families for ZFYVE9 Gene

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.
  • Contains 1 FYVE-type zinc finger.
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.
Similarity:
  • Contains 1 FYVE-type zinc finger.
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: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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for ZFYVE9 Gene COMPARTMENTS Subcellular localization image for ZFYVE9 gene
Compartment Confidence
endosome 5
cytosol 3
nucleus 3
extracellular 2
plasma membrane 1

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:0016020 membrane IEA --
GO:0031901 early endosome membrane IEA,TAS --
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 NAS,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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with ZFYVE9: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.49 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE9 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE9 34 35
  • 92.56 (n)
mouse
(Mus musculus)
Mammalia Zfyve9 34 16 35
  • 91.94 (n)
dog
(Canis familiaris)
Mammalia ZFYVE9 34 35
  • 91.82 (n)
rat
(Rattus norvegicus)
Mammalia Zfyve9 34
  • 87.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ZFYVE9 34 35
  • 77.38 (n)
lizard
(Anolis carolinensis)
Reptilia ZFYVE9 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve9 34
  • 70.7 (n)
Str.7299 34
African clawed frog
(Xenopus laevis)
Amphibia madhip-A 34
zebrafish
(Danio rerio)
Actinopterygii zfyve9a 34 35
  • 70.73 (n)
BX511174.1 35
  • 55 (a)
ManyToMany
CR762408.1 35
  • 55 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13130 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAB1 35
  • 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
rs10493164 -- 52,253,209(+) AATCA(A/G)TGCTT intron-variant
rs10493165 -- 52,321,637(+) GTGGT(C/T)CTACT intron-variant
rs10575332 -- 52,195,677(+) GACAC(-/AG)AGTGT intron-variant
rs10606764 -- 52,280,350(+) ACTCC(-/AG)CCTGA intron-variant
rs10608842 -- 52,340,932(+) AAAAA(-/AA)CTAGG 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 J.L. (Cell 1998) 2 3 4 22 64
  2. Cytoplasmic PML function in TGF-beta signalling. (PMID: 15356634) Lin H.K. … Pandolfi P.P. (Nature 2004) 3 4 22 64
  3. Early endosomal regulation of Smad-dependent signaling in endothelial cells. (PMID: 11877415) Panopoulou E. … Fotsis T. (J. Biol. Chem. 2002) 3 4 22 64
  4. Smad3 allostery links TGF-beta receptor kinase activation to transcriptional control. (PMID: 12154125) Qin B.Y. … Lin K. (Genes Dev. 2002) 3 4 22 64
  5. Identification of a novel serine protease-like molecule in human brain. (PMID: 9582421) Meckelein B. … Abraham C.R. (Brain Res. Mol. Brain Res. 1998) 3 4 22 64

Products for ZFYVE9 Gene

Sources for ZFYVE9 Gene

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