Description: Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA. RefSeq Summary (NM_020429): This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]. Transcript (Including UTRs) Position: hg19 chr7:98,625,058-98,741,743 Size: 116,686 Total Exon Count: 19 Strand: - Coding Region Position: hg19 chr7:98,628,207-98,741,403 Size: 113,197 Coding Exon Count: 19
ID:SMUF1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase SMURF1; Short=hSMURF1; EC=6.3.2.-; AltName: Full=SMAD ubiquitination regulatory factor 1; AltName: Full=SMAD-specific E3 ubiquitin-protein ligase 1; FUNCTION: E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with TRAF4. Interacts (via HECT domain) with FBXL15 (via LRR repeats). Interacts with SMAD7 and TGFBR1; SMAD7 recruits SMURF1 to TGFBR1 and regulates TGF-beta receptor degradation. SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. DOMAIN: The C2 domain mediates membrane localization and substrate selection. PTM: Ubiquitinated by the SCF(FBXL15) complex at Lys-381 and Lys- 383, leading to its degradation by the proteasome. Lys-383 is the primary ubiquitination site. SIMILARITY: Contains 1 C2 domain. SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. SIMILARITY: Contains 2 WW domains. SEQUENCE CAUTION: Sequence=BAB13451.1; Type=Erroneous initiation;
Body Height Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Colitis, Ulcerative Andre Franke et al. Nature genetics 2010, Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL)., Nature genetics.
[PubMed 20228798]
ulcerative colitis Franke ,et al. Nat Genet 2010, Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL) , Nature genetics 2010 42- 4 : 292-4.
[PubMed 20228798]
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 Q9HCE7
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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.
Biological Process: GO:0000209 protein polyubiquitination GO:0006511 ubiquitin-dependent protein catabolic process GO:0006611 protein export from nucleus GO:0007179 transforming growth factor beta receptor signaling pathway GO:0007398 ectoderm development GO:0016567 protein ubiquitination GO:0030154 cell differentiation GO:0030279 negative regulation of ossification GO:0030509 BMP signaling pathway GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030514 negative regulation of BMP signaling pathway GO:0030579 ubiquitin-dependent SMAD protein catabolic process GO:0032801 receptor catabolic process GO:0034394 protein localization to cell surface GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0060071 Wnt signaling pathway, planar cell polarity pathway GO:0061734 parkin-mediated mitophagy in response to mitochondrial depolarization GO:0061736 engulfment of target by autophagosome GO:0061753 substrate localization to autophagosome GO:0071211 protein targeting to vacuole involved in autophagy GO:0072659 protein localization to plasma membrane GO:1903861 positive regulation of dendrite extension GO:2000060 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
