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SMAD1 (SMAD family member 1)

Identity

Alias_namesMADH1
MAD, mothers against decapentaplegic homolog 1 (Drosophila)
SMAD, mothers against DPP homolog 1 (Drosophila)
Alias_symbol (synonym)MADR1
JV4-1
Other aliasBSP-1
BSP1
JV41
HGNC (Hugo) SMAD1
LocusID (NCBI) 4086
Atlas_Id 41228
Location 4q31.21  [Link to chromosome band 4q31]
Location_base_pair Starts at 146403957 and ends at 146480325 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CLCN3 (4q33) / SMAD1 (4q31.21)CLCN3 4q33 / SMAD1 4q31.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SMAD1   6767
Cards
Entrez_Gene (NCBI)SMAD1  4086  SMAD family member 1
AliasesBSP-1; BSP1; JV4-1; JV41; 
MADH1; MADR1
GeneCards (Weizmann)SMAD1
Ensembl hg19 (Hinxton)ENSG00000170365 [Gene_View]  chr4:146403957-146480325 [Contig_View]  SMAD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000170365 [Gene_View]  chr4:146403957-146480325 [Contig_View]  SMAD1 [Vega]
ICGC DataPortalENSG00000170365
TCGA cBioPortalSMAD1
AceView (NCBI)SMAD1
Genatlas (Paris)SMAD1
WikiGenes4086
SOURCE (Princeton)SMAD1
Genetics Home Reference (NIH)SMAD1
Genomic and cartography
GoldenPath hg19 (UCSC)SMAD1  -     chr4:146403957-146480325 +  4q31.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SMAD1  -     4q31.21   [Description]    (hg38-Dec_2013)
EnsemblSMAD1 - 4q31.21 [CytoView hg19]  SMAD1 - 4q31.21 [CytoView hg38]
Mapping of homologs : NCBISMAD1 [Mapview hg19]  SMAD1 [Mapview hg38]
OMIM601595   
Gene and transcription
Genbank (Entrez)AK096624 AK293055 BC001878 BE644607 BI772689
RefSeq transcript (Entrez)NM_001003688 NM_005900
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_042284 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)SMAD1
Cluster EST : UnigeneHs.604588 [ NCBI ]
CGAP (NCI)Hs.604588
Alternative Splicing GalleryENSG00000170365
Gene ExpressionSMAD1 [ NCBI-GEO ]   SMAD1 [ EBI - ARRAY_EXPRESS ]   SMAD1 [ SEEK ]   SMAD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4086
GTEX Portal (Tissue expression)SMAD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15797   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15797  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15797
Splice isoforms : SwissVarQ15797
PhosPhoSitePlusQ15797
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD_dom-like    SMAD_dom_Dwarfin-type    SMAD_FHA_domain   
Domain families : Pfam (Sanger)MH1 (PF03165)    MH2 (PF03166)   
Domain families : Pfam (NCBI)pfam03165    pfam03166   
Domain families : Smart (EMBL)DWA (SM00523)  DWB (SM00524)  
Conserved Domain (NCBI)SMAD1
DMDM Disease mutations4086
Blocks (Seattle)SMAD1
PDB (SRS)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
PDB (PDBSum)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
PDB (IMB)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
PDB (RSDB)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
Structural Biology KnowledgeBase1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
SCOP (Structural Classification of Proteins)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
CATH (Classification of proteins structures)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A   
SuperfamilyQ15797
Human Protein AtlasENSG00000170365
Peptide AtlasQ15797
HPRD03356
IPIIPI00019549   IPI00023594   IPI00967197   IPI00966911   IPI00964775   IPI00967231   IPI00964170   IPI00968055   
Protein Interaction databases
DIP (DOE-UCLA)Q15797
IntAct (EBI)Q15797
FunCoupENSG00000170365
BioGRIDSMAD1
STRING (EMBL)SMAD1
ZODIACSMAD1
Ontologies - Pathways
QuickGOQ15797
Ontology : AmiGOMAPK cascade  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  ureteric bud development  mesodermal cell fate commitment  osteoblast fate commitment  transcription factor activity, sequence-specific DNA binding  receptor signaling protein activity  protein binding  intracellular  nucleus  nucleus  nucleus  nucleus  nuclear inner membrane  nucleoplasm  transcription factor complex  cytoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  inflammatory response  signal transduction  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  gamete generation  negative regulation of cell proliferation  embryonic pattern specification  positive regulation of gene expression  integral component of membrane  protein kinase binding  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  midbrain development  hindbrain development  primary miRNA processing  homeostatic process  identical protein binding  protein homodimerization activity  protein complex  positive regulation of osteoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  cartilage development  cardiac muscle cell proliferation  bone development  SMAD protein signal transduction  SMAD protein signal transduction  positive regulation of cartilage development  co-SMAD binding  I-SMAD binding  SMAD protein complex  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  
Ontology : EGO-EBIMAPK cascade  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  ureteric bud development  mesodermal cell fate commitment  osteoblast fate commitment  transcription factor activity, sequence-specific DNA binding  receptor signaling protein activity  protein binding  intracellular  nucleus  nucleus  nucleus  nucleus  nuclear inner membrane  nucleoplasm  transcription factor complex  cytoplasm  cytoplasm  cytosol  transcription from RNA polymerase II promoter  inflammatory response  signal transduction  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  gamete generation  negative regulation of cell proliferation  embryonic pattern specification  positive regulation of gene expression  integral component of membrane  protein kinase binding  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity  midbrain development  hindbrain development  primary miRNA processing  homeostatic process  identical protein binding  protein homodimerization activity  protein complex  positive regulation of osteoblast differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  cartilage development  cardiac muscle cell proliferation  bone development  SMAD protein signal transduction  SMAD protein signal transduction  positive regulation of cartilage development  co-SMAD binding  I-SMAD binding  SMAD protein complex  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  
Pathways : BIOCARTACTCF: First Multivalent Nuclear Factor [Genes]    ALK in cardiac myocytes [Genes]   
Pathways : KEGGTGF-beta signaling pathway    Hippo signaling pathway    Transcriptional misregulation in cancer   
NDEx NetworkSMAD1
Atlas of Cancer Signalling NetworkSMAD1
Wikipedia pathwaysSMAD1
Orthology - Evolution
OrthoDB4086
GeneTree (enSembl)ENSG00000170365
Phylogenetic Trees/Animal Genes : TreeFamSMAD1
HOVERGENQ15797
HOGENOMQ15797
Homologs : HomoloGeneSMAD1
Homology/Alignments : Family Browser (UCSC)SMAD1
Gene fusions - Rearrangements
Fusion : MitelmanCLCN3/SMAD1 [4q33/4q31.21]  [t(4;4)(q31;q33)]  
Fusion: TCGACLCN3 4q33 SMAD1 4q31.21 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD1
dbVarSMAD1
ClinVarSMAD1
1000_GenomesSMAD1 
Exome Variant ServerSMAD1
ExAC (Exome Aggregation Consortium)SMAD1 (select the gene name)
Genetic variants : HAPMAP4086
Genomic Variants (DGV)SMAD1 [DGVbeta]
DECIPHER (Syndromes)4:146403957-146480325  ENSG00000170365
CONAN: Copy Number AnalysisSMAD1 
Mutations
ICGC Data PortalSMAD1 
TCGA Data PortalSMAD1 
Broad Tumor PortalSMAD1
OASIS PortalSMAD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMAD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMAD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SMAD1
DgiDB (Drug Gene Interaction Database)SMAD1
DoCM (Curated mutations)SMAD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMAD1 (select a term)
intoGenSMAD1
Cancer3DSMAD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601595   
Orphanet
MedgenSMAD1
Genetic Testing Registry SMAD1
NextProtQ15797 [Medical]
TSGene4086
GENETestsSMAD1
Huge Navigator SMAD1 [HugePedia]
snp3D : Map Gene to Disease4086
BioCentury BCIQSMAD1
ClinGenSMAD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4086
Chemical/Pharm GKB GenePA30524
Clinical trialSMAD1
Miscellaneous
canSAR (ICR)SMAD1 (select the gene name)
Probes
Litterature
PubMed227 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMAD1
EVEXSMAD1
GoPubMedSMAD1
iHOPSMAD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:28:12 CET 2017

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