SMAD1 - SMAD family member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4086

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	References	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	References	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	References	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

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

SMAD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

SMAD1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80323	Smad1 Antibody (YA077)	WB, ICC/IF, IHC-P	Human, Mouse
HY-P80852	Phospho-Smad1 (Ser463/Ser465) Antibody (YA153)	WB, IP	Human, Rat
HY-P80852A	Phospho-Smad1 (Ser463/Ser465) Antibody (YA153)(PBS only)	WB, IP	Human, Rat
HY-P83771	Phospho-Smad1/5/9 (S463/S465/S467)Antibody(YA3567)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P84600	Smad1 Antibody (YA4297)	WB, ELISA	Human, Mouse, Monkey
HY-P84600A	Smad1 Antibody (YA4297)(PBS only)	WB, ELISA	Human, Mouse, Monkey
HY-P84601	Smad1 Antibody (YA4298)	WB, ELISA	Human, Mouse, Rat
HY-P84601A	Smad1 Antibody (YA4298)(PBS only)	WB, ELISA	Human, Mouse, Rat
HY-P85875	Smad1/9 Antibody (YA5567)	WB, ICC/IF, ELISA	Human, Mouse, Rat, Monkey

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

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P5542	Vicatertide	Inhibitor	99.24%	Phase 3
HY-112499	Menaquinone-7	Activator	98.51%	Phase 2

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