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SMAD4 SMAD family member 4 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_005359 Homo sapiens SMAD family member 4 (SMAD4), mRNA. ORF Sequence $481.11
Peptide Services
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Gene Symbol SMAD4
Entrez Gene ID 4089
Full Name SMAD family member 4
Synonyms DPC4, JIP, MADH4
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q21.1

Summary This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009].
Disorder

MIM: 600993

Pancreatic cancer (3); Polyposis, juvenile intestinal, 174900 (3);

mRNA Protein Product Sequence Price Select
NM_005359, 195963400 NP_005350, 4885457 mothers against decapentaplegic homolog 4 Full Length $0.00
ORF Sequence $481.11
KEGG
hsa05212Pancreatic cancer
hsa05220Chronic myeloid leukemia
hsa05166HTLV-I infection
hsa05210Colorectal cancer
hsa05200Pathways in cancer
hsa04350TGF-beta signaling pathway
hsa05161Hepatitis B
hsa04520Adherens junction
hsa04310Wnt signaling pathway
hsa04110Cell cycle
Pathway Interaction Database
alk1pathwayALK1 signaling events
myc_activpathwayValidated targets of C-MYC transcriptional activation
tgfbrpathwayTGF-beta receptor signaling
smad2_3pathwayRegulation of cytoplasmic and nuclear SMAD2/3 signaling
bmppathwayBMP receptor signaling
myc_represspathwayValidated targets of C-MYC transcriptional repression
lkb1_pathwayLKB1 signaling events
alk2pathwayALK2 signaling events
smad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
hif1_tfpathwayHIF-1-alpha transcription factor network
WikiPathways
WP366TGF-beta Receptor Signaling Pathway
WP1591Heart Development
WP1984Integrated Breast Cancer Pathway
WP560TGF Beta Signaling Pathway
WP53Id Signaling Pathway
WP363Wnt Signaling Pathway NetPath
WP1425BMP signalling and regulation
WP710DNA damage response (only ATM dependent)
WP2256Integrated Pancreatic Cancer Pathway
WP179Cell cycle
WP138Androgen receptor signaling pathway
WP61Delta-Notch Signaling Pathway
WP2377Integrated Pancreatic Cancer Pathway
BIOCYC
HUMAN_PWY66-11BMP Signalling Pathway
Reactome
REACT_120850TGF-beta receptor signaling activates SMADs
REACT_121061Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
REACT_111102Signal Transduction
REACT_71Gene Expression
REACT_121111Downregulation of SMAD2/3:SMAD4 transcriptional activity
REACT_6844Signaling by TGF-beta Receptor Complex
REACT_12627Generic Transcription Pathway
REACT_120734SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
REACT_111045Developmental Biology
REACT_111057Signaling by NODAL
REACT_12034Signaling by BMP
Homo sapiens (human)SMAD4NP_005350.1
Pan troglodytes (chimpanzee)SMAD4XP_001155601.1
Macaca mulatta (Rhesus monkey)SMAD4XP_001096658.1
Canis lupus familiaris (dog)SMAD4XP_849370.1
Bos taurus (cattle)SMAD4NP_001069677.1
Mus musculus (house mouse)Smad4NP_032566.2
Rattus norvegicus (Norway rat)Smad4NP_062148.1
Danio rerio (zebrafish)LOC559111NP_001116172.1
Drosophila melanogaster (fruit fly)MedNP_733438.1
GeneCards SMAD4
PDB 1U7F, 1DD1, 1MR1, 1G88, 1YGS, 1U7V
UniProt Q13485
MIM 600993
Ensembl ENSG00000141646
HGNC 6770
HPRD 02995

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
mothers against decapentaplegic homolog 4
Names
mothers against decapentaplegic homolog 4
MAD homolog 4
SMAD, mothers against DPP homolog 4
deleted in pancreatic carcinoma locus 4
deletion target in pancreatic carcinoma 4
mothers against decapentaplegic, Drosophila, homolog of, 4

Interactant

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