SMAD1

SMAD1 Gene 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]

Details

Type
Protein Coding
Official Symbol
SMAD1
Official Name
SMAD family member 1 [Source:HGNC Symbol;Acc:HGNC:6767]
Ensembl ID
ENSG00000170365
Bio databases IDs NCBI: 4086 Ensembl: ENSG00000170365
Aliases SMAD family member 1
Synonyms
BSP-1,DKFZP586M0622,dwf-A,JV4-1,Mad1,MADH1,MADR1,Mlp1,mMad1,MusMLP,SMAD family member 1
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • ubiquitin protein ligase binding
  • SMAD binding
  • transcription regulator
  • MH2 domain
  • protein kinase binding
  • nuclear export signal
  • MH domain
  • nucleic acid binding
  • inhibitory domain
  • linker domain
  • protein binding
  • sequence-specific DNA binding
  • identical protein binding
  • N-terminal Mad Homology 1 (MH1) domain
  • effector domain
  • RNA binding
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • double-stranded DNA binding
  • DEAD/H-box RNA helicase binding
  • MH1 domain
  • C-terminal Mad Homology 2 (MH2) domain
  • transcription factor activity

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • ESR1
  • AR
  • RUNX2
  • GLI1
  • SMAD4
  • ZNF8
  • BUB1
  • SMURF1
  • WDR77
  • IPO8
disease
  • hypertension
  • pulmonary hypertensive arterial disease
  • neoplasia
  • colorectal cancer
  • organismal death
  • tumorigenesis
  • vertebral segmentation anomaly
  • sagittal cleft vertebra
  • chorioallantoic membrane fusion failure
  • epilepsy
regulated by
  • GDF2
  • tetrabromobisphenol A
  • trichostatin A
  • decitabine
  • lipopolysaccharide
  • TNF
  • ALB
  • SLC22A5
  • beta-estradiol
  • TGFB1
regulates
  • TP53
  • ALP
  • TGFB1
  • p38 MAPK
  • COL1A2
  • VEGFA
  • luciferase reporter gene
  • synthetic promoter
  • BCL2L1
  • ICAM1
role in cell
  • expression in
  • invasion by
  • migration
  • proliferation
  • apoptosis
  • upregulation in
  • growth
  • induction in
  • binding in
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Cytoplasm
  • cytosol
  • inner nuclear membrane
  • nucleoplasm
  • nuclear envelope
  • chromatin
  • perikaryon

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the SMAD1 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • positive regulation of cartilage development
  • negative regulation of cell proliferation
  • transforming growth factor beta receptor signaling pathway
  • transcription from RNA polymerase II promoter
  • gamete generation
  • anatomical structure morphogenesis
  • positive regulation of transcription from RNA polymerase II promoter
  • positive regulation of osteoblast differentiation
  • bone development
  • negative regulation of muscle cell differentiation
  • MAPK cascade
  • midbrain development
  • inflammatory response
  • ossification
  • hindbrain development
  • BMP signaling pathway
  • primary miRNA processing
  • signal transduction
  • transcription, DNA-dependent
  • embryonic pattern specification
  • cardiac conduction system development
  • SMAD protein signal transduction
  • osteoblast fate commitment
  • cardiac muscle cell proliferation
  • regulation of transcription from RNA polymerase II promoter
  • mesodermal cell fate commitment
  • ureteric bud development
  • homeostatic process
  • positive regulation of gene expression
  • cell differentiation
  • cellular response to organic cyclic compound
  • cartilage development

CELLULAR COMPONENT

Where in the cell the gene product is active
  • SMAD protein complex
  • nucleus
  • SMAD2 protein complex
  • nuclear inner membrane
  • cytoplasm
  • SMAD2-SMAD3 protein complex
  • membrane
  • cytosol
  • macromolecular complex
  • chromatin
  • nucleoplasm

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein kinase binding
  • identical protein binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • sequence-specific DNA binding RNA polymerase II transcription factor activity
  • sequence-specific DNA binding transcription factor activity
  • ubiquitin protein ligase binding
  • protein binding
  • metal ion binding
  • DEAD/H-box RNA helicase binding
  • co-SMAD binding
  • I-SMAD binding
  • primary miRNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.