2. Gene
  3. SMAD1 - SMAD family member 1 Gene

SMAD1 - SMAD family member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BSP1; JV41; BSP-1; JV4-1; MADH1; MADR1

Gene ID: 4086 | Gene type: protein coding

About SMAD1

Cytogenetic location: 4q31.21 Genomic coordinates (GRCh38): 4:145,480,770-145,559,176 (from NCBI)

This gene has 16 transcripts (splice variants), 272 orthologues and 7 paralogues. Ubiquitous expression in endometrium (RPKM 11.3), brain (RPKM 9.3) and 25 other tissues.

Summary

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]

SMAD1 Products(8)

mRNA Protein Name
NM_001003688.1 NP_001003688.1 mothers against decapentaplegic homolog 1
NM_001354811.1 NP_001341740.1 mothers against decapentaplegic homolog 1
NM_001354812.1 NP_001341741.1 mothers against decapentaplegic homolog 1
NM_001354813.1 NP_001341742.1 mothers against decapentaplegic homolog 1
NM_001354814.1 NP_001341743.1 mothers against decapentaplegic homolog 1
NM_001354816.1 NP_001341745.1 mothers against decapentaplegic homolog 1
NM_001354817.1 NP_001341746.1 mothers against decapentaplegic homolog 1
NM_005900.3 NP_005891.1 mothers against decapentaplegic homolog 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DEAD/H-box RNA helicase binding IPI
IPI: Inferred from physical interaction
18548003 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
12270938 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9389648 GOA
enables I-SMAD binding IPI
IPI: Inferred from physical interaction
9436979 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12270938 GOA
enables co-SMAD binding IPI
IPI: Inferred from physical interaction
9111321 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
9111321 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9436979 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
12874272 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
11278251 GOA
Biological Process GO Annotation Evidence Reference Source
involved in BMP signaling pathway IDA
IDA: Inferred from direct assay
8637600 GOA
involved in BMP signaling pathway IMP
IMP: Inferred from mutant phenotype
19664780 GOA
involved in DNA-templated transcription IDA
IDA: Inferred from direct assay
11779505 GOA
involved in SMAD protein signal transduction IDA
IDA: Inferred from direct assay
9111321 GOA
involved in SMAD protein signal transduction IGI
IGI: Inferred from genetic interaction
25012146 GOA
involved in ossification IGI
IGI: Inferred from genetic interaction
25012146 GOA
involved in positive regulation of sprouting angiogenesis IMP
IMP: Inferred from mutant phenotype
24047927 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12270938 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
9389648 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromatin IDA
IDA: Inferred from direct assay
8653785 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
9389648 GOA
part of heteromeric SMAD protein complex IPI
IPI: Inferred from physical interaction
11779505 GOA
part of homomeric SMAD protein complex IPI
IPI: Inferred from physical interaction
11779505 GOA
located in nuclear inner membrane IDA
IDA: Inferred from direct assay
15647271 GOA
located in nucleus IDA
IDA: Inferred from direct assay
8653785 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
23610558 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMAD1 Protein Structure

MH1

MH1: MH1 domain (31 - 131)

MH2

MH2: MH2 domain (266 - 442)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 465 a.a.
Protein Preferred Names Protein Names

mothers against decapentaplegic homolog 1

MAD, mothers against decapentaplegic homolog 1

SMAD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SMAD1 Q15797 EPN2 Homo sapiens O95208-2
Y2H Prey Pooling
32296183
Intra
SMAD1 Q15797 EPN2 Homo sapiens O95208-2
Y2H Array
32296183
Intra
SMAD1 Q15797 CTDSPL Homo sapiens O15194
Anti Tag CoIP
16882717
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
SLC
31467278
Intra
SMAD1 Q15797 SMURF2 Homo sapiens Q9HAU4
Y2H Prey Pooling
32296183
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Density Sedimentation
11779505
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Y2H Array
31467278
Intra
SMAD1 Q15797 LEMD3 Homo sapiens Q9Y2U8
Y2H
15231748
Intra
SMAD1 Q15797 SMURF2 Homo sapiens Q9HAU4
Validated Y2H
32296183
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Y2H Prey Pooling
32296183
Intra
SMAD1 Q15797 LEMD3 Homo sapiens Q9Y2U8
Y2H Prey Pooling
32296183
Intra
SMAD1 Q15797 SMURF2 Homo sapiens Q9HAU4
Y2H Array
32296183
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Y2H Array
24412244
Intra
SMAD1 Q15797 LEMD3 Homo sapiens Q9Y2U8
Validated Y2H
32296183
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Anti Tag CoIP
9436979
Intra
SMAD1 Q15797 SMURF2 Homo sapiens Q9HAU4
Y2H
15231748
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Y2H Array
32296183
Intra
SMAD1 Q15797 LEMD3 Homo sapiens Q9Y2U8
Y2H Array
32296183
Intra
SMAD1 Q15797 SMAD4 Homo sapiens Q13485
Y2H
15231748
Intra
SMAD1 Q15797 SMAD1 Homo sapiens Q15797
Density Sedimentation
11779505
Intra
SMAD1 Q15797 CTDSP2 Homo sapiens O14595
Anti Tag CoIP
16882717
Intra
SMAD1 Q15797 DDX5 Homo sapiens P17844
Pull Down
18548003
Intra
SMAD1 Q15797 IPO8 Homo sapiens O15397
Anti Tag CoIP
17785517
Intra
SMAD1 Q15797 IPO8 Homo sapiens O15397
Pull Down
17785517
Intra
SMAD1 Q15797 DROSHA Homo sapiens Q9NRR4
Anti Tag CoIP
18548003
Intra
SMAD1 Q15797 DROSHA Homo sapiens Q9NRR4
Pull Down
18548003
Intra
SMAD1 Q15797 PSMB4 Homo sapiens P28070
Y2H Prey Pooling
32296183
Intra
SMAD1 Q15797 PSMB4 Homo sapiens P28070
Y2H Array
32296183
Intra
SMAD1 Q15797 PSMB4 Homo sapiens P28070
Y2H
15231748
Intra
SMAD1 Q15797 AR Homo sapiens P10275
IF
17183365
Intra
SMAD1 Q15797 AR Homo sapiens P10275
Anti Bait CoIP
17183365
Intra
SMAD1 Q15797 AR Homo sapiens P10275
Anti Tag CoIP
17183365
Intra
SMAD1 Q15797 AR Homo sapiens P10275
Complementation
17183365
Intra
SMAD1 Q15797 OPTN Homo sapiens Q96CV9
Y2H Pooling
32814053
Intra
SMAD1 Q15797 OPTN Homo sapiens Q96CV9
Validated Y2H
32814053
Intra
SMAD1 Q15797 OPTN Homo sapiens Q96CV9
Y2H Array
32814053
Intra
SMAD1 Q15797 UCHL3 Homo sapiens P15374
Anti Tag CoIP
21453705
Intra
SMAD1 Q15797 SMAD6 Homo sapiens O43541
Y2H
9436979
Intra
SMAD1 Q15797 SMAD6 Homo sapiens O43541
Anti Tag CoIP
9436979
Intra
SMAD1 Q15797 SMURF1 Homo sapiens Q9HCE7-2
Pull Down
21708152
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Buschke-Ollendorff Syndrome

BOS

Dermatoosteopoikilosis

Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

Osteopathia Condensans Disseminata

Dermatofibrosis Lenticularis Disseminata

Disseminated Dermatofibrosis With Osteopoikilosis

Dermatofibrosis, Disseminated, With Osteopoikilosis

Osteopoikilosis With Or Without Melorheostosis

Dermatofibrosis, Disseminated With Osteopoikilosis

Dermatofibrosis Disseminata Lenticularis

Isolated Osteopoikilosis

Osteopoikilosis, Isolated
Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata
Melorheostosis

Candle Wax Disease

Flowing Hyperostosis

Hyperostosis, Monomelic

Leri Syndrome

Leri'S Disease

Melorheostoses

Melorheostosis Of Leri

Melorheostosis, Isolated

Periostitis

Monomelic

Rheostosis
Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification
Cowden Syndrome 6

CWS6

Cowden Syndrome, Type 6
Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome
Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial
Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]
Follicular Lymphoma

Lymphoma, Follicular

Lymphoma Follicular

Brill-Symmers' Disease

Large Cell Follicular Non-Hodgkin Lymphoma

Diffuse Follicle Centre Lymphoma

Diffuse Follicular Lymphoma Nos

Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

Follicular Large Cell Cleaved Or Noncleaved Lymphoma

Large Cell Follicular Noncleaved Lymphoma

Follicular Lymphoma With Or Without Diffuse Areas

Histiocytic Follicular Lymphoma

Histiocytic Nodular Lymphoma

Histiocytic Nodular Malignant Lymphoma

Large Cell Follicular Lymphoma

Large Cell Noncleaved Follicular Lymphoma

Large Cell Noncleaved Follicular Malignant Lymphoma

Nodular Reticulum Cell Sarcoma

Noncleaved Follicular Lymphoma
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation
Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Inhibitory Antibodies (2)
Cat. No. Product Name Effect
Purity Phase
HY-P99359 Elezanumab Inhibitor 99.69% Phase 2
HY-P99353 Ascrinvacumab Inhibitor 97.45% Phase 2
Pre-clinical Phase
Bioactive Molecules (6)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-124697 BMP signaling agonist sb4 Agonist 99.98% Unkown
HY-12274 ML347 Inhibitor 99.94% Unkown
HY-123900 AZ12799734 Inhibitor 98.07% Unkown
HY-164145 CDD-1653 / Unkown
HY-N0946 (-)-Pinoresinol 4-O-glucoside Inhibitor / Unkown
HY-RS13392 SMAD1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SMAD1 RGD RGD:3030
Canis familiaris SMAD1 VGNC VGNC:46518
Mus musculus SMAD1 MGD MGI:109452
Macaca mulatta SMAD1 VGNC VGNC:77809
Bos taurus SMAD1 VGNC VGNC:34974
Felis catus SMAD1 VGNC VGNC:68129
Others SMAD1 NCBI