| Tag | Content |
|---|---|
| UniProt Accession | SMAD4_HUMAN; Q13485; |
| Entrez ID | 4089 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | Mothers against decapentaplegic homolog 4 (MAD homolog 4) (Mothers against DPP homolog 4) (Deletion target in pancreatic carcinoma 4) (SMAD family member 4) (SMAD 4) (Smad4) (hSMAD4) |
| Gene Name | SMAD4; DPC4; MADH4 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By si(view all) |
| Sequence (Fasta) | MDNMSITNTP TSNDACLSIV HSLMCHRQGG ESETFAKRAI ESLVKKLKEK KDELDSLITA 60 ITTNGAHPSK CVTIQRTLDG RLQVAGRKGF PHVIYARLWR WPDLHKNELK HVKYCQYAFD 120 LKCDSVCVNP YHYERVVSPG IDLSGLTLQS NAPSSMMVKD EYVHDFEGQP SLSTEGHSIQ 180 TIQHPPSNRA STETYSTPAL LAPSESNATS TANFPNIPVA STSQPASILG GSHSEGLLQI 240 ASGPQPGQQQ NGFTGQPATY HHNSTTTWTG SRTAPYTPNL PHHQNGHLQH HPPMPPHPGH 300 YWPVHNELAF QPPISNHPAP EYWCSIAYFE MDVQVGETFK VPSSCPIVTV DGYVDPSGGD 360 RFCLGQLSNV HRTEAIERAR LHIGKGVQLE CKGEGDVWVR CLSDHAVFVQ SYYLDREAGR 420 APGDAVHKIY PSAYIKVFDL RQCHRQMQQQ AATAQAAAAA QAAAVAGNIP GPGSVGGIAP 480 AISLSAAAGI GVDDLRRLCI LRMSFVKGWG PDYPRQSIKE TPCWIEIHLH RALQLLDEVL 540 HTMPIADPQP LD 553 |
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| Database | Annotation |
|---|---|
| Cancer Gene Census | colorectal, pancreatic, small intestine gastrointestinal polyp juvenile polyposis |
| CTD (Curated) (count: 16) (view all) | MESH:C562730
; Adenocarcinoma Of Esophagus MESH:D059327 ; Brachydactyly MESH:D018270 ; Carcinoma, Ductal, Breast MESH:D018281 ; Cholangiocarcinoma MESH:D003072 ; Cognition Disorders MESH:D015179 ; Colorectal Neoplasms |
| DisGeNet (Curated) (count: 129) (view all) | C0000737; Abdominal Pain
C0002871; Anemia C0003492; Aortic coarctation C0003507; Aortic Valve Stenosis C0004352; Autistic Disorder C0005744; Blepharophimosis |
| HGMD (count: 70) (view all) | CD000941; Juvenile polyposis syndrome; Complex rearrangements
CD024182; Juvenile polyposis coli; Small deletions CD040590; Juvenile polyposis and haemorrhagic telangiectasia; Small deletions CD000942; Juvenile polyposis coli; Small deletions CD000943; Juvenile polyposis coli; Small deletions CD064634; Juvenile polyposis syndrome; Small deletions |
| GWASdb (count: 1) | rs11875522; HDL cholesterol; cholesterol ester storage disease|cholesterol embolism|coronary artery disease |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 13) (view all) | 138 YHYERVVSPGIDLSG dbPAF
178 SLSTEGHSIQTIQHP dbPAF 22 ACLSIVHSLMCHRQG dbPAF 265 ATYHHNSTTTWTGSR dbPAF 269 HNSTTTWTGSRTAPY dbPAF 273 TTWTGSRTAPYTPNL dbPAF |
| Acetylation (count: 5) | 106 WRWPDLHKNELKHVK PLMD
37 GESETFAKRAIESLV PLMD 428 APGDAVHKIYPSAYI PLMD 45 RAIESLVKKLKEKKD PLMD 507 ILRMSFVKGWGPDYP PLMD |
| Ubiquitination (count: 4) | 113 KNELKHVKYCQYAFD PLMD
385 RARLHIGKGVQLECK PLMD 519 DYPRQSIKETPCWIE PLMD 70 TNGAHPSKCVTIQRT PLMD |
| Sumoylation (count: 2) | 113 KNELKHVKYCQYAFD PLMD
159 APSSMMVKDEYVHDF PLMD |
| Malonylation (count: 4) | 428 APGDAVHKIYPSAYI PLMD
45 RAIESLVKKLKEKKD PLMD 507 ILRMSFVKGWGPDYP PLMD 88 RLQVAGRKGFPHVIY PLMD |