SMAD7
entrez
4092
canonical
uniprot
O15105
canonical
ensembl
ENSG00000101665
resolver
ensp
ENSP00000262158
resolver
ensp
ENSP00000466902
resolver
ensp
ENSP00000467621
resolver
genesymbol
SMAD7
resolver
genesymbol_syn
MADH7
resolver
genesymbol_syn
MADH8
resolver
hgnc
HGNC:6773
resolver
uniprot
B3KYA8
resolver
uniprot
B7Z773
resolver
uniprot
K7EQ10
resolver
uniprot
O14740
resolver
uniprot
Q6DK23
resolver
uniprot_entry
B3KYA8_HUMAN
resolver
uniprot_entry
SMAD7_HUMAN
resolver
uniprot_sec
B7Z773
resolver
uniprot_sec
K7EQ10
resolver
uniprot_sec
O14740
resolver
uniprot_sec
Q6DK23
resolver
amino_acid_sequence
MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAAGAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLCKVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR
uniprot
proteins
disease_involvement
DISEASE: Colorectal cancer 3 (CRCS3) [MIM:612229]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:17934461}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access (PubMed:21791611). Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. {ECO:0000269|PubMed:11163210, ECO:0000269|PubMed:12023024, ECO:0000269|PubMed:14718519, ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:21791611, ECO:0000269|PubMed:9892009}.
uniprot
proteins
mass_dalton
46426
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="K->A: Loss of acetylation, and of SMURF1-dependent degradation; when associated with A-70."; /evidence="ECO:0000269|PubMed:12408818"; MUTAGEN 70; /note="K->A: Loss of acetylation, and of SMURF1-dependent degradation; when associated with A-64."; /evidence="ECO:0000269|PubMed:12408818"; MUTAGEN 207..211; /note="Missing: Diminishes interaction with SMURF2."; /evidence="ECO:0000269|PubMed:11163210"; MUTAGEN 211; /note="Y->A: Diminishes interaction with SMURF2 and reduces inhibition of TGF-beta signaling."; /evidence="ECO:0000269|PubMed:11163210"; MUTAGEN 409..426; /note="Missing: 90% reduction in TGF-beta receptor binding."; /evidence="ECO:0000269|PubMed:9215638
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1. {ECO:0000250|UniProtKB:O35253, ECO:0000269|PubMed:17327236}.; PTM: Ubiquitinated by WWP1 (By similarity). Polyubiquitinated by RNF111, which is enhanced by AXIN1 and promotes proteasomal degradation (PubMed:14657019, PubMed:16601693). In response to TGF-beta, ubiquitinated by SMURF1; which promotes its degradation (PubMed:11278251). {ECO:0000250|UniProtKB:O35253, ECO:0000269|PubMed:11278251, ECO:0000269|PubMed:14657019, ECO:0000269|PubMed:16601693}.; PTM: Acetylation prevents ubiquitination and degradation mediated by SMURF1. {ECO:0000269|PubMed:12408818}.
uniprot
proteins
protein_family
Dwarfin/SMAD family
uniprot
proteins
pubmed
10647776
uniprot
proteins
pubmed
10708948
uniprot
proteins
pubmed
10708949
uniprot
proteins
pubmed
11163210
uniprot
proteins
pubmed
11278251
uniprot
proteins
pubmed
11483516
uniprot
proteins
pubmed
12023024
uniprot
proteins
pubmed
12408818
uniprot
proteins
pubmed
14657019
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14718519
uniprot
proteins
pubmed
14993265
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16061177
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
16601693
uniprot
proteins
pubmed
16641086
uniprot
proteins
pubmed
17327236
uniprot
proteins
pubmed
17934461
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
9215638
uniprot
proteins
pubmed
9256479
uniprot
proteins
pubmed
9335507
uniprot
proteins
pubmed
9759503
uniprot
proteins
pubmed
9892009
uniprot
proteins
sequence_length
426
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14657019, ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17327236}. Cytoplasm {ECO:0000269|PubMed:14657019, ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17327236}. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236). {ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17327236}.
uniprot
proteins