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

SMAD1 - SMAD family member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：SMAD 家族成员 1

种属: Homo sapiens

同用名: BSP1; JV41; BSP-1; JV4-1; MADH1; MADR1

基因 ID: 4086 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质属于 SMAD，这是一个蛋白质家族，类似于果蝇基因“抗脑瘫母亲” (Mad) 和秀丽隐杆线虫基因 Sma 的基因产物。 SMAD 蛋白是介导多种信号通路的信号转导和转录调节剂。这种蛋白质介导骨形态发生蛋白 (BMP) 的信号，骨形态发生蛋白参与一系列生物活动，包括细胞生长、细胞凋亡、形态发生、发育和免疫反应。响应于 BMP 配体，该蛋白可被 BMP 受体激酶磷酸化和激活。这种蛋白质的磷酸化形式与 SMAD4 形成复合物，这对其在转录调节中的功能很重要。该蛋白是 SMAD 特异性 E3 泛素连接酶 (如 SMURF1 和 SMURF2) 的靶标，并经历泛素化和蛋白酶体介导的降解。已经观察到编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DEAD/H-box RNA helicase binding IPI
IPI: 通过物理相互作用推断
18548003 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
12270938 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
9389648 GOA
enables I-SMAD binding IPI
IPI: 通过物理相互作用推断
9436979 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12270938 GOA
enables co-SMAD binding IPI
IPI: 通过物理相互作用推断
9111321 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
9111321 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9436979 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
12874272 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
11278251 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IDA
IDA: 通过直接分析推断
8637600 GOA
involved in BMP signaling pathway IMP
IMP: 通过突变表型推断
19664780 GOA
involved in DNA-templated transcription IDA
IDA: 通过直接分析推断
11779505 GOA
involved in SMAD protein signal transduction IDA
IDA: 通过直接分析推断
9111321 GOA
involved in SMAD protein signal transduction IGI
IGI: 通过遗传相互作用推断
25012146 GOA
involved in ossification IGI
IGI: 通过遗传相互作用推断
25012146 GOA
involved in positive regulation of sprouting angiogenesis IMP
IMP: 通过突变表型推断
24047927 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12270938 GOA
involved in transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
9389648 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
8653785 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
9389648 GOA
part of heteromeric SMAD protein complex IPI
IPI: 通过物理相互作用推断
11779505 GOA
part of homomeric SMAD protein complex IPI
IPI: 通过物理相互作用推断
11779505 GOA
located in nuclear inner membrane IDA
IDA: 通过直接分析推断
15647271 GOA
located in nucleus IDA
IDA: 通过直接分析推断
8653785 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23610558 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SMAD1 蛋白结构

MH1

MH1: MH1 domain (31 - 131)

MH2

MH2: MH2 domain (266 - 442)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 465 a.a.
蛋白主名 其他名称

mothers against decapentaplegic homolog 1

MAD, mothers against decapentaplegic homolog 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Clinical Phase
抗体抑制剂 (2)
目录号 产品名 作用方式
纯度 Phase
HY-P99359 Elezanumab Inhibitor 99.69% Phase 2
HY-P99353 Ascrinvacumab Inhibitor 97.45% Phase 2
Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-124697 BMP signaling agonist sb4 Agonist 99.98% 否
HY-12274 ML347 Inhibitor 99.94% 否
HY-123900 AZ12799734 Inhibitor 98.07% 否
HY-164145 CDD-1653 / 否
HY-N0946 (-)-Pinoresinol 4-O-glucoside Inhibitor / 否
HY-RS13392 SMAD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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