Human Gene ZFYVE9 (ENST00000371591.2) from GENCODE V38
Description: 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. (from UniProt O95405) RefSeq Summary (NM_004799): 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]. Gencode Transcript: ENST00000371591.2 Gencode Gene: ENSG00000157077.16 Transcript (Including UTRs) Position: hg38 chr1:52,142,212-52,348,671 Size: 206,460 Total Exon Count: 20 Strand: + Coding Region Position: hg38 chr1:52,233,207-52,346,221 Size: 113,015 Coding Exon Count: 17
ID:ZFYV9_HUMAN DESCRIPTION: RecName: Full=Zinc finger FYVE domain-containing protein 9; AltName: Full=Mothers against decapentaplegic homolog-interacting protein; Short=Madh-interacting protein; AltName: Full=Novel serine protease; Short=NSP; AltName: Full=Receptor activation anchor; Short=hSARA; AltName: Full=Smad anchor for receptor activation; 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. SUBUNIT: 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. INTERACTION: Q9Y561:LRP12; NbExp=2; IntAct=EBI-296817, EBI-296693; P08100:RHO; NbExp=2; IntAct=EBI-296817, EBI-1394177; Q13277:STX3; NbExp=3; IntAct=EBI-296817, EBI-1394295; SUBCELLULAR LOCATION: Cytoplasm. Early endosome membrane. TISSUE SPECIFICITY: Ubiquitous. In the brain found primarily in the cerebrovascular smooth muscle cells and reactive astrocytes. DOMAIN: The SMAD binding domain (SBD) interacts with the MH2 domains of SMAD2 or SMAD3. DOMAIN: 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. SEQUENCE CAUTION: Sequence=AAC99462.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAD31694.1; Type=Frameshift; Positions=1243;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95405
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.