Aliases for SMAD1 Gene
Aliases for SMAD1 Gene
- SMAD Family Member 1 2 3 4 5
- Mothers Against DPP Homolog 1 3 4
- Mad-Related Protein 1 3 4
- MADH1 3 4
- BSP-1 3 4
- JV4-1 3 4
- MADR1 3 4
- BSP1 3 4
- MAD, Mothers Against Decapentaplegic Homolog 1 (Drosophila) 2
- Transforming Growth Factor-Beta Signaling Protein 1 3
- Transforming Growth Factor-Beta-Signaling Protein 1 4
External Ids for SMAD1 Gene
- HGNC: 6767
- Entrez Gene: 4086
- Ensembl: ENSG00000170365
- OMIM: 601595
- UniProtKB: Q15797
Previous HGNC Symbols for SMAD1 Gene
- MADH1
Previous GeneCards Identifiers for SMAD1 Gene
- GC07U990134
- GC04P146981
- GC04P146760
- GC04P146622
- GC04P146402
- GC04P142134
Summaries for SMAD1 Gene
-
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
GeneCards Summary for SMAD1 Gene
SMAD1 (SMAD Family Member 1) is a Protein Coding gene. Diseases associated with SMAD1 include Buschke-Ollendorff Syndrome and Osteopoikilosis. Among its related pathways are Integrated Breast Cancer Pathway and TGF-beta signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein kinase binding. An important paralog of this gene is SMAD5.
UniProtKB/Swiss-Prot for SMAD1 Gene
-
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMAD1 Gene
Genomics for SMAD1 Gene
GeneHancer (GH) Regulatory Elements for SMAD1 Gene
Promoters and enhancers for SMAD1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04J145480 | Promoter/Enhancer | 2.4 | EPDnew Ensembl ENCODE dbSUPER | 650.7 | +1.8 | 1847 | 4.3 | PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 GLI4 ZNF2 ZNF48 YY1 | SMAD1 SMAD1-AS2 | |
| GH04J145481 | Promoter/Enhancer | 0.7 | EPDnew dbSUPER | 650.7 | -0.4 | -443 | 0.1 | SMAD1 GC04P145457 | ||
| GH04J145275 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 10.5 | -202.8 | -202806 | 6 | ATF1 FEZF1 NCOA2 TCF12 ZNF213 GATA2 FOS ATF7 RUNX3 KLF13 | SMAD1 RPS23P4 LINC02266 | |
| GH04J145538 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 12 | +59.5 | 59504 | 4.1 | PRDM6 SCRT2 ATF7 ZNF600 ATF2 | SMAD1-AS1 SMAD1-AS2 SMAD1 LOC285422 | |
| GH04J145530 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 11.9 | +51.3 | 51276 | 3.5 | ZNF121 POLR2A MAFK CHD2 | SMAD1-AS2 SMAD1 OTUD4 MMAA SMAD1-AS1 LOC285422 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMAD1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SMAD1 gene promoter:
-
- Nkx2-5
- C/EBPalpha
Regulatory Element Products
Genomic Locations for SMAD1 Gene
Genomic Locations for SMAD1 Gene
- chr4:145,481,194-145,559,176
- (GRCh38/hg38)
- Size:
- 77,983 bases
- Orientation:
- Plus strand
- chr4:146,402,346-146,480,328
- (GRCh37/hg19)
- Size:
- 77,983 bases
- Orientation:
- Plus strand
Genomic View for SMAD1 Gene
Genes around SMAD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q31.21 by Entrez Gene
- 4q31.21 by HGNC
- 4q31.21 by Ensembl
SMAD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMAD1 Gene
Proteins for SMAD1 Gene
-
Protein details for SMAD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q15797-SMAD1_HUMAN
- Recommended name:
- Mothers against decapentaplegic homolog 1
- Protein Accession:
- Q15797
- A8KAJ0
- D3DNZ9
- Q16636
- Q9UFT8
Protein attributes for SMAD1 Gene
- Size:
- 465 amino acids
- Molecular mass:
- 52260 Da
- Quaternary structure:
-
- Found in a complex with SMAD4 and YY1. Interacts with HGS, NANOG and ZCCHC12 (By similarity). Upon C-terminus phosphorylation: forms trimers with another SMAD1 and the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit, CREB-binding protein (CBP), p300, SMURF1, SMURF2, USP15 and HOXC8. Associates with ZNF423 or ZNF521 in response to BMP2 leading to activate transcription of BMP target genes. Interacts with SKOR1. Interacts (via MH2 domain) with LEMD3. Binding to LEMD3 results in at least a partial reduction of receptor-mediated phosphorylation. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the 20S proteasome. Found in a macromolecular complex with FAM83G. Interacts (via MH2 domain) with FAM83G (via MH2 domain); in a SMAD4-independent manner. Interacts with ZC3H3 (By similarity). Interacts with TMEM119 (By similarity). Interacts (via MH1 and MH2 domains) with ZNF8 (By similarity). Interacts with RANBP3L; the interaction increases when SMAD1 is not phosphorylated and mediates SMAD1 nuclear export (PubMed:25755279).
Three dimensional structures from OCA and Proteopedia for SMAD1 Gene
Protein Expression for SMAD1 Gene
Post-translational modifications for SMAD1 Gene
- Phosphorylation of the C-terminal SVS motif by BMP type 1 receptor kinase activates SMAD1 by promoting dissociation from the receptor and trimerization with SMAD4.
- Ubiquitinated by SMAD-specific E3 ubiquitin ligase SMURF1, leading to its degradation. Monoubiquitinated, leading to prevent DNA-binding. Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes. Dephosphorylation, probably by PPM1A, induces its export from the nucleus to the cytoplasm (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SMAD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for SMAD1 (Smad1)
-
Custom Antibody ServicesOriGene Antibodies for SMAD1
- AP00195PU-N
- AP06624PU-N
- AP08024PU-N
- AP08024PU-S
- AP08071PU-N
- AP08071PU-S
- AP20533PU-N
- AP21086PU-N
- AP23424PU-N
- AP39026PU-N
- TA310019
- TA312831
- TA312832
- TA312833
- TA312834
- TA312835
- TA319239
- TA319240
- TA323504
- TA323505
- TA323506
- TA325845
- TA325846
- TA325847
- TA326928
- TA327894
- TA336360
- TA336440
- TA336694
- TA347697
- TA348866
- TA350977
- TA507240
- CF507240
- TA507243
- CF507243
- TA507244
- CF507244
- TA507245
- CF507245
- TA809092
- CF809092
- TA809093
- CF809093
- Novus Biologicals Antibodies for SMAD1
-
Abcam antibodies for SMAD1
- Invitrogen Antibodies for SMAD1
- antibodies-online: Search results for 340 available SMAD1 Antibodies ranked by validation data
- Compare Top SMAD1 Antibodies
-
Recommended
- 269 WB Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 161 WB Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 139 WB Antibodies (anti-rat)
- 36 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- GeneTex Smad1 Antibody for SMAD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD1
- Sino Biological Antibodies for SMAD1
Protein Products
-
OriGene Purified Proteins for SMAD1
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD1
- Origene Custom Protein Services for SMAD1
- Search GeneTex for Proteins for SMAD1
-
ProSci Proteins for SMAD1
-
Abcam proteins for SMAD1
Assay Products
-
Abcam assays for SMAD1
No data available for DME Specific Peptides for SMAD1 Gene
Domains & Families for SMAD1 Gene
Gene Families for SMAD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SMAD1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMAD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q15797UniProtKB/Swiss-Prot:
SMAD1_HUMAN :- The MH2 domain mediates phosphorylation-dependent trimerization through L3 loop binding of phosphoserines in the adjacent subunit.
- Belongs to the dwarfin/SMAD family.
- Domain:
-
- The MH2 domain mediates phosphorylation-dependent trimerization through L3 loop binding of phosphoserines in the adjacent subunit.
- Family:
-
- Belongs to the dwarfin/SMAD family.
Function for SMAD1 Gene
Molecular function for SMAD1 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA,IEA | 12270938 |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | NAS | 19274049 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12270938 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | IDA | 9389648 |
Phenotypes for SMAD1 Gene
- MGI mutant phenotypes for SMAD1:
-
inferred from 9 alleles
- cardiovascular system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for SMAD1:
-
- Increased transcriptional activity
- Decreased homologous recombination repair frequency
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance
- Increased cell number in S
- shRNA abundance <= 50%
- Lamellipodia cells
Animal Models for SMAD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMAD1
-
CRISPR Products
-
OriGene CRISPR knockouts for SMAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD1
- genomics-online: gRNA clones - Search results for available SMAD1 gene related products
- Applied Biological Materials CRISPR for SMAD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD1
- GenScript: Design CRISPR guide RNA sequences for SMAD1
miRNA for SMAD1 Gene
- miRTarBase miRNAs that target SMAD1
-
- hsa-mir-155-5p (MIRT001500)
- hsa-mir-26a-5p (MIRT002340)
- hsa-mir-30a-5p (MIRT006319)
- hsa-mir-30b-5p (MIRT006320)
- hsa-mir-30c-5p (MIRT006321)
- hsa-mir-30d-5p (MIRT006322)
- hsa-mir-16-5p (MIRT031384)
- hsa-mir-205-5p (MIRT053377)
- hsa-mir-675-3p (MIRT438188)
- hsa-mir-3117-3p (MIRT653378)
- hsa-mir-216b-5p (MIRT653379)
- hsa-mir-3591-3p (MIRT653380)
- hsa-mir-21-3p (MIRT653381)
- hsa-mir-186-5p (MIRT653382)
- hsa-mir-26b-5p (MIRT731492)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD1
- Browse OriGene Inhibitory RNA Products For SMAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD1
- genomics-online: shRNA clones - Search results for available SMAD1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SMAD1
- VectorBuilder custom plasmid, inducible vectors for SMAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SMAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD1
- genomics-online: cdna clones - Search results for available SMAD1 gene related products
- orf clones - Search results for available SMAD1 gene related products
- Applied Biological Materials Clones for SMAD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SMAD1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMAD1 Gene
Localization for SMAD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMAD1 Gene
- Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4 (PubMed:15647271). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15647271). Exported from the nucleus to the cytoplasm when dephosphorylated (By similarity). {ECO:0000250 UniProtKB:P70340, ECO:0000269 PubMed:15647271}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Cytosol (3)
- Nucleus (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | NAS | 10647776 |
| GO:0005634 | nucleus | TAS | 19018011 |
| GO:0005637 | nuclear inner membrane | IDA | 15647271 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
Pathways & Interactions for SMAD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by BMP |
.33
|
|
| 2 | BMP Pathway |
.44
|
|
| 3 | Human Embryonic Stem Cell Pluripotency | ||
| 4 | TGF-Beta Pathway |
.60
|
.57
|
| 5 | Deubiquitination |
.74
|
|
Pathways by source for SMAD1 Gene
1 Sino Biological pathway for SMAD1 Gene
1 GeneTex pathway for SMAD1 Gene
13 BioSystems pathways for SMAD1 Gene
6 Reactome pathways for SMAD1 Gene
4 KEGG pathways for SMAD1 Gene
3 R&D Systems pathways for SMAD1 Gene
8 Qiagen pathways for SMAD1 Gene
1 Cell Signaling Technology pathway for SMAD1 Gene
Interacting Proteins for SMAD1 Gene
Selected Interacting proteins:
Q15797-SMAD1_HUMAN
ENSP00000305769
for SMAD1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SMAD1
SIGNOR curated interactions for SMAD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | IEA | -- |
| GO:0001657 | ureteric bud development | IEA | -- |
| GO:0001710 | mesodermal cell fate commitment | IEA | -- |
| GO:0002051 | osteoblast fate commitment | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
Drugs & Compounds for SMAD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Pirfenidone | Approved, Investigational | Pharma | TGF-β production inhibitor, Antifibrotic agent; regulates cytokine levels in vivo | 65 | ||
| LDN193189 Hydrochloride | Pharma | ALK inhibitor,potent and selective | 0 | |||
| LY364947 | Pharma | 0 | ||||
| RepSox | Pharma | ALK5 inhibitor,potent and selective, Potent and selective inhibitor of TGF-betaRI | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) ApexBio Compounds for SMAD1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| LDN193189 Hydrochloride | ALK inhibitor,potent and selective | 1062368-62-0 |
| LY364947 | 396129-53-6 | |
| Pirfenidone | TGF-β production inhibitor | 53179-13-8 |
| RepSox | ALK5 inhibitor,potent and selective | 446859-33-2 |
Transcripts for SMAD1 Gene
mRNA/cDNA for SMAD1 Gene
- (10) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (237) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000514778 616 bps (uc062zzl.1)
- ENST00000507594 558 bps (uc062zzm.1)
- ENST00000514831 569 bps (uc062zzn.1)
- ENST00000302085 1966 bps (uc003ikc.4)
- ENST00000512019 847 bps (uc062zzo.1)
Unigene Clusters for SMAD1 Gene
- SMAD family member 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SMAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD1
- genomics-online: gRNA clones - Search results for available SMAD1 gene related products
- Applied Biological Materials CRISPR for SMAD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD1
- GenScript: Design CRISPR guide RNA sequences for SMAD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD1
- Browse OriGene Inhibitory RNA Products For SMAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD1
- genomics-online: shRNA clones - Search results for available SMAD1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SMAD1
- VectorBuilder custom plasmid, inducible vectors for SMAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SMAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD1
- genomics-online: cdna clones - Search results for available SMAD1 gene related products
- orf clones - Search results for available SMAD1 gene related products
- Applied Biological Materials Clones for SMAD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | · | 8g | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
Expression for SMAD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Central Intermediate Lamina Cells Autopod Synovial Joint
- Articular Cartilage Cells Zeugopod Articular Cartilage
- Articular Cartilage Cells Stylopod Articular Cartilage
- Hypertrophic Chondrocytes Stylopod Growth Plate
- Interzone Cells Autopod Synovial Joint
-
Limb (Muscoskeletal System)
- Central Intermediate Lamina Cells Autopod Synovial Joint
- Interzone Cells Autopod Synovial Joint
- Central Intermediate Lamina Cells Zeugopod Synovial Joint
- Interzone Cells Stylopod Synovial Joint
- Interzone Cells Zeugopod Synovial Joint
- Blood (Cardiovascular System)
-
Bone (Muscoskeletal System)
- Hypertrophic Chondrocytes Stylopod Growth Plate
- Hypertrophic Chondrocytes Zeugopod Growth Plate
- Hypertrophic Chondrocytes Autopod Growth Plate
-
Primitive Streak (Early Embryonic Tissues)
- Hemangioblasts Posterior Primitive Streak
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Spinal Cord (Nervous System)
- Preganglionic Motor Neurons Preganglionic Column
-
Neurons
- Preganglionic Motor Neurons Preganglionic Column
-
Endothelium (Cardiovascular System)
- Hemangioblasts Posterior Primitive Streak
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
-
Thymus (Hematopoietic System)
- Double Positive Thymocytes Thymus
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Epiblast (Early Embryo)
- Extraembryonic Mural Cells Extraembryonic Mesoderm
-
Mesoderm (Gastrulation Derivatives)
- Mesoderm Cells Mesoderm
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Mesenchymal Stem Cells
- Umbilical Cord (Extraembryonic Tissues)
- Neural Crest (Gastrulation Derivatives)
This gene is overexpressed in Liver (63.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMAD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SMAD1 Gene:
SMAD1SOURCE GeneReport for Unigene cluster for SMAD1 Gene:
Hs.604588mRNA Expression by UniProt/SwissProt for SMAD1 Gene:
Q15797-SMAD1_HUMAN
Tissue specificity:
Ubiquitous. Highest expression seen in the heart and skeletal muscle.
Evidence on tissue expression from TISSUES for SMAD1 Gene
- Kidney(4.2)
- Nervous system(3.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for SMAD1
-
OriGene qPCR primer pairs for SMAD1
- genomics-online: primer clones - Search results for available SMAD1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD1 Gene
Orthologs for SMAD1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MADH1 34 |
|
OneToOne | |
| SMAD1 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | SMAD1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SMAD1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SMAD1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Smad1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Smad1 33 |
|
||
| chicken (Gallus gallus) |
Aves | SMAD1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SMAD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | smad1 33 |
|
||
| Str.8919 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.87 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | smad1 34 33 |
|
ManyToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | Mad 34 33 |
|
ManyToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008551 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sma-2 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8058 34 |
|
OneToOne |
- Species where no ortholog for SMAD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for SMAD1 Gene
- ENSEMBL:
- Gene Tree for SMAD1 (if available)
- TreeFam:
- Gene Tree for SMAD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMAD1: view image
Paralogs for SMAD1 Gene
(8) SIMAP similar genes for SMAD1 Gene using alignment to 6 proteins:
- SMAD1_HUMAN
- D6RAY1_HUMAN
- D6RBH9_HUMAN
- D6RD62_HUMAN
- D6RDN7_HUMAN
- D6REQ3_HUMAN
Variants for SMAD1 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs587777018 | uncertain-significance, Variant of unknown significance, Primary pulmonary hypertension | 145,514,621(+) | T/C | coding_sequence_variant, missense_variant | |
| rs1000047752 | -- | 145,554,312(+) | C/A | intron_variant | |
| rs1000079756 | -- | 145,528,473(+) | C/T | intron_variant | |
| rs1000098599 | -- | 145,551,194(+) | A/G | intron_variant | |
| rs1000105832 | -- | 145,506,133(+) | G/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv128e180 | CNV | loss | 20482838 |
| dgv900n67 | CNV | loss | 20364138 |
| dgv9299n54 | CNV | gain | 21841781 |
| dgv9300n54 | CNV | loss | 21841781 |
| dgv981e199 | CNV | deletion | 23128226 |
| esv1000240 | CNV | deletion | 20482838 |
| esv1540098 | CNV | deletion | 17803354 |
| esv2662386 | CNV | deletion | 23128226 |
| esv2728491 | CNV | deletion | 23290073 |
| esv2728492 | CNV | deletion | 23290073 |
| esv28792 | CNV | loss | 19812545 |
| esv3298273 | CNV | deletion | 24192839 |
| esv3564752 | CNV | deletion | 23714750 |
| esv3602561 | CNV | loss | 21293372 |
| esv3602562 | CNV | loss | 21293372 |
| nsv1074222 | CNV | deletion | 25765185 |
| nsv1126699 | CNV | deletion | 24896259 |
| nsv511241 | CNV | loss | 21212237 |
| nsv513171 | CNV | loss | 21212237 |
| nsv595621 | CNV | loss | 21841781 |
| nsv595623 | CNV | gain+loss | 21841781 |
| nsv595625 | CNV | gain | 21841781 |
| nsv822763 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.61;
13.03% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMAD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD1 Gene
Disorders for SMAD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| buschke-ollendorff syndrome |
|
|
| osteopoikilosis |
|
|
| pulmonary hypertension |
|
|
Search SMAD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMAD1_HUMAN- Note=SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:21898662}.
Additional Disease Information for SMAD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SMAD1 Gene
Publications for SMAD1 Gene
- Structural basis of Smad1 activation by receptor kinase phosphorylation. (PMID: 11779505) Qin BY … Lin K (Molecular cell 2001) 3 4 22 58
- The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. (PMID: 9136927) Kretzschmar M … Massagué J (Genes & development 1997) 3 4 22 58
- A human Mad protein acting as a BMP-regulated transcriptional activator. (PMID: 8637600) Liu F … Massagué J (Nature 1996) 3 4 22 58
- MADR1, a MAD-related protein that functions in BMP2 signaling pathways. (PMID: 8653785) Hoodless PA … Wrana JL (Cell 1996) 2 3 4 58
- Serine phosphorylation, chromosomal localization, and transforming growth factor-beta signal transduction by human bsp-1. (PMID: 8663601) Lechleider RJ … Roberts AB (The Journal of biological chemistry 1996) 3 4 22 58
Products for SMAD1 Gene
- R&D Systems Antibodies for SMAD1 (Smad1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for SMAD1
- AP00195PU-N
- AP06624PU-N
- AP08024PU-N
- AP08024PU-S
- AP08071PU-N
- AP08071PU-S
- AP20533PU-N
- AP21086PU-N
- AP23424PU-N
- AP39026PU-N
- TA310019
- TA312831
- TA312832
- TA312833
- TA312834
- TA312835
- TA319239
- TA319240
- TA323504
- TA323505
- TA323506
- TA325845
- TA325846
- TA325847
- TA326928
- TA327894
- TA336360
- TA336440
- TA336694
- TA347697
- TA348866
- TA350977
- TA507240
- CF507240
- TA507243
- CF507243
- TA507244
- CF507244
- TA507245
- CF507245
- TA809092
- CF809092
- TA809093
- CF809093
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SMAD1
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD1
- Origene Custom Protein Services for SMAD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD1
- Browse OriGene Inhibitory RNA Products For SMAD1
- OriGene qPCR primer pairs and template standards for SMAD1
- OriGene qPCR primer pairs for SMAD1
- OriGene CRISPR knockouts for SMAD1
- OriGene ORF clones in human for SMAD1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SMAD1
- GenScript: Next-day shipping of latest version cDNA ORF clones for SMAD1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SMAD1
- GenScript Custom Assay Services for SMAD1
- GenScript Custom overexpressing Cell Line Services for SMAD1
- GenScript: Design CRISPR guide RNA sequences for SMAD1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SMAD1
- Sino Biological Human cDNA Clone for SMAD1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for SMAD1
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SMAD1
- Novus Biologicals proteins and lysates for SMAD1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SMAD1
- Abcam proteins for SMAD1
- Abcam assays for SMAD1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cyagen custom Knockout/knockin (KOKI) mouse models for SMAD1
- VectorBuilder custom plasmid, inducible vectors for SMAD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SMAD1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SMAD1
- antibodies-online: Search results for 340 available SMAD1 Antibodies ranked by validation data
- Compare Top SMAD1 Antibodies
- Recommended
- 269 WB Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 161 WB Antibodies (anti-mouse)
- 36 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 139 WB Antibodies (anti-rat)
- 36 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- antibodies-online: Search results for 54 available SMAD1 Elisa Kits ranked by validation data
- Compare Top SMAD1 Elisa Kits
- antibodies-online: Search results for 22 available SMAD1 Proteins ranked by validation data
- Compare Top SMAD1 Proteins
- GeneTex Smad1 Antibody for SMAD1
- Search GeneTex for Proteins for SMAD1
- Santa Cruz Biotechnology (SCBT) Antibodies for SMAD1
- Search Santa Cruz Biotechnology (SCBT) for SMAD1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMAD1
- Search for SMAD1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for SMAD1
- Horizon Cell Lines for SMAD1
- genomics-online: cdna clones - Search results for available SMAD1 gene related products
- orf clones - Search results for available SMAD1 gene related products
- genomics-online: gRNA clones - Search results for available SMAD1 gene related products
- genomics-online: primer clones - Search results for available SMAD1 gene related products
- genomics-online: shRNA clones - Search results for available SMAD1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD1
- GeneCopoeia miRNA 3'UTR Target clone products for SMAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD1
Sources for SMAD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt