Free for academic non-profit institutions. Other users need a Commercial license
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... See more...
Aliases for SMAD1 Gene
Aliases for SMAD1 Gene
- SMAD Family Member 1 2 3 4 5
- JV4-1 2 3 4
- MADR1 2 3 4
- Mothers Against Decapentaplegic Homolog 1 3 4
- Mothers Against DPP Homolog 1 3 4
- Mad-Related Protein 1 3 4
- BSP-1 3 4
- MADH1 3 4
- BSP1 3 4
- MAD, Mothers Against Decapentaplegic Homolog 1 (Drosophila) 2
- Transforming Growth Factor-Beta Signaling Protein 1 3
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 Melorheostosis. Among its related pathways are Transcriptional misregulation in cancer and Signaling by GPCR. 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 Summary 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.
Additional gene information for SMAD1 Gene
- HGNC(6767)
- Entrez Gene(4086)
- Ensembl(ENSG00000170365)
- OMIM(601595)
- UniProtKB(Q15797)
- Open Targets Platform(ENSG00000170365)
- Search for SMAD1 at DataMed
- Search for SMAD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMAD1 Gene
Genomics for SMAD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SMAD1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMAD1
- Top Transcription factor binding sites by QIAGEN in the SMAD1 gene promoter:
-
- C/EBPalpha
- Nkx2-5
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 HGNC
- 4q31.21 by Entrez Gene
- 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
- RayBiotech Chicken Anti-Human SFRP1 Antibody and Rabbit Anti-Human Smad1
- GeneTex Anti-Smad1 antibody and Anti-Smad1 antibody [SD2090]
-
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
- CF507240
- CF507243
- CF507244
- CF507245
- CF809092
- CF809093
- TA310019
- TA312831
- TA312832
- TA312833
- TA312834
- TA312835
- TA319239
- TA319240
- TA323504
- TA323505
- TA323506
- TA325845
- TA325846
- TA325847
- TA326928
- TA327894
- TA336360
- TA336440
- TA336694
- TA347697
- TA348866
- TA350977
- TA507240
- TA507240S
- TA507243
- TA507243S
- TA507244
- TA507244S
- TA507245
- TA507245S
- TA809092
- TA809092S
- TA809093
- TA809093S
- Novus Biologicals Antibodies for SMAD1
-
Abcam antibodies for SMAD1
- Invitrogen Antibodies for SMAD1 (AFLGC-SMAD1)
- antibodies-online: Show 131 available SMAD1 Antibodies ranked by validation data
- Compare Top SMAD1 Antibodies
-
Recommended
- 303 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 192 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 167 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD1
- Sino Biological Antibodies for SMAD1
Protein Products
- G Biosciences Human SMAD1/SMAD family member 1, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD1
- Origene Custom Protein Services for SMAD1
-
ProSci Proteins for SMAD1
-
Abcam proteins for SMAD1
Assay Products
- Novus Biologicals ELISA Kits for SMAD1
- antibodies-online: Show 60 available SMAD1 Elisa Kits ranked by validation data
- Compare Top SMAD1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for SMAD1
-
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:
-
- Dwarfin protein
- ProtoNet:
Suggested Antigen Peptide Sequences for SMAD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Transforming growth factor-beta-signaling protein 1 (SMAD1_HUMAN)
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.
Phenotypes From GWAS Catalog for SMAD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12270938 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | 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
- nervous system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for SMAD1:
Animal Models for SMAD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SMAD1 - Select products 50% OFF >
- * SMAD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SMAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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)
- mmu-miR-199a-3p (MIRT006577)
- hsa-miR-16-5p (MIRT031384)
- hsa-miR-205-5p (MIRT053377)
- mmu-miR-30a-5p (MIRT054528)
- mmu-miR-30c-5p (MIRT054536)
- 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
Clone Products
- Applied Biological Materials (abm): Clones for SMAD1 - Select products 50% OFF >
- * SMAD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226823
- MR226823
- MR226823L3
- MR226823L4
- RC200299
- RC200299L1
- RC200299L2
- RC200299L3
- RC200299L4
- RC223918
- RC223918L1
- RC223918L2
- RC223918L3
- RC223918L4
- RG200299
- RG223918
- RR205371
- RR205371L3
- RR205371L4
- MR226823L3V
- MR226823L4V
- RC200299L1V
- RC200299L2V
- RC200299L3V
- RC200299L4V
- RC223918L1V
- RC223918L2V
- RC223918L3V
- RC223918L4V
- RR205371L3V
- RR205371L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMAD1
- Addgene plasmids for SMAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD1
Cell Line Products
-
Horizon Cell Lines for SMAD1
No data available for Enzyme Numbers (IUBMB) , 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 | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (3)
- Nucleoplasm (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | NAS,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 | nNOS Signaling in Skeletal Muscle |
BMP Pathway
.44
|
TOB in Osteoblast Signaling
.01
|
| 3 | Human Embryonic Stem Cell Pluripotency |
Factors Promoting Cardiogenesis in Vertebrates
.50
|
Human Embryonic Stem Cell Pluripotency
.50
|
| 4 | TGF-Beta Pathway |
TGF-Beta Pathway
.60
|
JAK-STAT Pathway
.57
|
| 5 | Deubiquitination |
.74
|
|
Pathways by source for SMAD1 Gene
1 Sino Biological pathway for SMAD1 Gene
13 BioSystems pathways for SMAD1 Gene
6 Reactome pathways for SMAD1 Gene
3 R&D Systems pathways for SMAD1 Gene
8 Qiagen pathways for SMAD1 Gene
- BMP Pathway
- Cardiomyocyte Differentiation through BMP Receptors
- Factors Promoting Cardiogenesis in Vertebrates
- Human Embryonic Stem Cell Pluripotency
- JAK-STAT Pathway
1 Cell Signaling Technology pathway for SMAD1 Gene
1 GeneTex pathway for SMAD1 Gene
Interacting Proteins for SMAD1 Gene
Selected Interacting proteins:
Q15797-SMAD1_HUMAN
ENSP00000426568
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:0006355 | regulation of 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 | 86 | ||
| 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 |
Drug Products
- G Biosciences Human SMAD1/SMAD family member 1, Lyophilized
- ApexBio compounds for SMAD1
Transcripts for SMAD1 Gene
mRNA/cDNA for SMAD1 Gene
- 8 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302085 3002 nts (view in UCSC)
- ENST00000394092 1658 nts (view in UCSC)
- ENST00000502342 262 nts (view in UCSC)
- ENST00000503324 573 nts (view in UCSC)
- ENST00000506626 518 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SMAD1 - Select products 50% OFF >
- * SMAD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SMAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for SMAD1 - Select products 50% OFF >
- * SMAD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226823
- MR226823
- MR226823L3
- MR226823L4
- RC200299
- RC200299L1
- RC200299L2
- RC200299L3
- RC200299L4
- RC223918
- RC223918L1
- RC223918L2
- RC223918L3
- RC223918L4
- RG200299
- RG223918
- RR205371
- RR205371L3
- RR205371L4
- MR226823L3V
- MR226823L4V
- RC200299L1V
- RC200299L2V
- RC200299L3V
- RC200299L4V
- RC223918L1V
- RC223918L2V
- RC223918L3V
- RC223918L4V
- RR205371L3V
- RR205371L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMAD1
- Addgene plasmids for SMAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD1
| 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: |
Relevant External Links for SMAD1 Gene
- GeneLoc Exon Structure for
- SMAD1
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMAD1
SOURCE 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(4.5)
- Nervous system(3.9)
- Muscle(2.5)
- Lung(2.4)
- Skin(2.3)
- Heart(2.3)
- Liver(2.3)
- Blood(2.1)
- Intestine(2.1)
- Spleen(2.1)
- Pancreas(2.1)
Primer Products
-
OriGene qPCR primer pairs for SMAD1
-
OriGene qPCR primer pairs and template standards for SMAD1
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 31 |
|
OneToOne | |
| SMAD1 30 |
|
||||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SMAD1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SMAD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SMAD1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Smad1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Smad1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SMAD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SMAD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smad1 30 |
|
||
| Str.8919 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.87 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | smad1 30 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Mad 30 31 |
|
ManyToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008551 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | sma-2 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8058 31 |
|
OneToOne |
- Species where no ortholog for SMAD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMAD1 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs587777018 | Uncertain Significance: Variant of unknown significance; Primary pulmonary hypertension. - | 145,514,621(+) | T/Cp.Val3Ala | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_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 |
|
|
| melorheostosis |
|
|
| osteopoikilosis |
|
|
| pulmonary hypertension |
|
|
| fibrodysplasia ossificans progressiva |
|
|
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
- Open Targets Platform
No data available for Genatlas for SMAD1 Gene
Publications for SMAD1 Gene
- A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PMID: 19211612) Shintani M … Matsuoka R (Journal of medical genetics 2009) 3 23 41
- Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling. (PMID: 17292623) Arndt S … Bosserhoff AK (Molecular and cellular neurosciences 2007) 3 4 23
- Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J … Mosser J (American journal of human genetics 2007) 3 23 41
- Structural basis of Smad1 activation by receptor kinase phosphorylation. (PMID: 11779505) Qin BY … Lin K (Molecular cell 2001) 3 4 23
- 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 23
ExternalLinks
Products for SMAD1 Gene
- 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
- CF507240
- CF507243
- CF507244
- CF507245
- CF809092
- CF809093
- TA310019
- TA312831
- TA312832
- TA312833
- TA312834
- TA312835
- TA319239
- TA319240
- TA323504
- TA323505
- TA323506
- TA325845
- TA325846
- TA325847
- TA326928
- TA327894
- TA336360
- TA336440
- TA336694
- TA347697
- TA348866
- TA350977
- TA507240
- TA507240S
- TA507243
- TA507243S
- TA507244
- TA507244S
- TA507245
- TA507245S
- TA809092
- TA809092S
- TA809093
- TA809093S
- Browse OriGene ELISA Kits
- Custom Assay Services
- 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 for SMAD1
- OriGene qPCR primer pairs and template standards for SMAD1
- OriGene CRISPR knockouts for SMAD1
- MG226823
- MR226823
- MR226823L3
- MR226823L4
- RC200299
- RC200299L1
- RC200299L2
- RC200299L3
- RC200299L4
- RC223918
- RC223918L1
- RC223918L2
- RC223918L3
- RC223918L4
- RG200299
- RG223918
- RR205371
- RR205371L3
- RR205371L4
- MR226823L3V
- MR226823L4V
- RC200299L1V
- RC200299L2V
- RC200299L3V
- RC200299L4V
- RC223918L1V
- RC223918L2V
- RC223918L3V
- RC223918L4V
- RR205371L3V
- RR205371L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products 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 ELISA Kits for SMAD1
- 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
- Invitrogen Antibodies for SMAD1 (AFLGC-SMAD1)
- ApexBio compounds for SMAD1
- VectorBuilder Custom and pre-made DNA vectors for SMAD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SMAD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SMAD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SMAD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SMAD1
- Addgene plasmids for SMAD1
- antibodies-online: Show 131 available SMAD1 Antibodies ranked by validation data
- Compare Top SMAD1 Antibodies
- Recommended
- 303 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 192 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 167 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- antibodies-online: Show 60 available SMAD1 Elisa Kits ranked by validation data
- Compare Top SMAD1 Elisa Kits
- Quality Products:
- antibodies-online: Show 24 available SMAD1 Proteins ranked by validation data
- Compare Top SMAD1 Proteins
- 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
- 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
- Search GeneCopoeia for 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) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB