SMAD1 - SMAD family member 1 Gene

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

SMAD1 Protein Structure

MH1

MH2

0
100
200
300
400
465 a.a.

Protein Preferred Names

Protein Names

mothers against decapentaplegic homolog 1

MAD, mothers against decapentaplegic homolog 1

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-P99353	Ascrinvacumab	Inhibitor	97.45%	Phase 2
HY-P99359	Elezanumab	Inhibitor	99.69%	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

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