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SMAD1 (SMAD family member 1)

Identity

Alias (NCBI)BSP-1
BSP1
JV4-1
JV41
MADH1
MADR1
HGNC (Hugo) SMAD1
HGNC Alias symbMADR1
JV4-1
HGNC Previous nameMADH1
HGNC Previous nameMAD, mothers against decapentaplegic homolog 1 (Drosophila)
 SMAD, mothers against DPP homolog 1 (Drosophila)
LocusID (NCBI) 4086
Atlas_Id 41228
Location 4q31.21  [Link to chromosome band 4q31]
Location_base_pair Starts at 145481853 and ends at 145559173 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    SMAD family member 1
AliasesBSP-1; BSP1; JV4-1; JV41; 
MADH1; MADR1
GeneCards (Weizmann)SMAD1
Ensembl hg19 (Hinxton)ENSG00000170365 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170365 [Gene_View]  ENSG00000170365 [Sequence]  chr4:145481853-145559173 [Contig_View]  SMAD1 [Vega]
ICGC DataPortalENSG00000170365
TCGA cBioPortalSMAD1
AceView (NCBI)SMAD1
Genatlas (Paris)SMAD1
SOURCE (Princeton)SMAD1
Genetics Home Reference (NIH)SMAD1
Genomic and cartography
GoldenPath hg38 (UCSC)SMAD1  -     chr4:145481853-145559173 +  4q31.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMAD1  -     4q31.21   [Description]    (hg19-Feb_2009)
GoldenPathSMAD1 - 4q31.21 [CytoView hg19]  SMAD1 - 4q31.21 [CytoView hg38]
ImmunoBaseENSG00000170365
Genome Data Viewer NCBISMAD1 [Mapview hg19]  
OMIM601595   
Gene and transcription
Genbank (Entrez)AK096624 AK293055 BC001878 BE644607 BI772689
RefSeq transcript (Entrez)NM_001003688 NM_001354811 NM_001354812 NM_001354813 NM_001354814 NM_001354816 NM_001354817 NM_005900
Consensus coding sequences : CCDS (NCBI)SMAD1
Gene ExpressionSMAD1 [ NCBI-GEO ]   SMAD1 [ EBI - ARRAY_EXPRESS ]   SMAD1 [ SEEK ]   SMAD1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMAD1 [ Firebrowse - Broad ]
GenevisibleExpression of SMAD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4086
GTEX Portal (Tissue expression)SMAD1
Human Protein AtlasENSG00000170365-SMAD1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ15797
Domaine pattern : Prosite (Expaxy)MH1 (PS51075)    MH2 (PS51076)   
Domains : Interpro (EBI)Dwarfin    MAD_homology1_Dwarfin-type    MAD_homology_MH1    SMAD-like_dom_sf    SMAD_dom_Dwarfin-type    SMAD_FHA_dom_sf    SMAD_MH1_sf   
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
PDB (RSDB)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
PDB Europe1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
PDB (PDBSum)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
PDB (IMB)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
Structural Biology KnowledgeBase1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
SCOP (Structural Classification of Proteins)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
CATH (Classification of proteins structures)1KHU    2LAW    2LAX    2LAY    2LAZ    2LB0    2LB1    3Q47    3Q4A    5ZOK   
SuperfamilyQ15797
AlphaFold pdb e-kbQ15797   
Human Protein Atlas [tissue]ENSG00000170365-SMAD1 [tissue]
HPRD03356
Protein Interaction databases
DIP (DOE-UCLA)Q15797
IntAct (EBI)Q15797
BioGRIDSMAD1
STRING (EMBL)SMAD1
ZODIACSMAD1
Ontologies - Pathways
QuickGOQ15797
Ontology : AmiGOMAPK cascade  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  ureteric bud development  mesodermal cell fate commitment  osteoblast fate commitment  cardiac conduction system development  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleus  nucleus  nuclear inner membrane  nucleoplasm  cytoplasm  cytoplasm  cytosol  regulation of transcription by RNA polymerase II  protein phosphorylation  inflammatory response  signal transduction  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  gamete generation  negative regulation of cell population proliferation  anatomical structure morphogenesis  embryonic pattern specification  positive regulation of gene expression  integral component of membrane  protein deubiquitination  DEAD/H-box RNA helicase binding  protein kinase binding  cell differentiation  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  negative regulation of BMP signaling pathway  midbrain development  hindbrain development  primary miRNA processing  protein-containing complex  homeostatic process  identical protein binding  positive regulation of osteoblast differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  negative regulation of muscle cell differentiation  cartilage development  cardiac muscle cell proliferation  bone development  SMAD protein signal transduction  SMAD protein signal transduction  SMAD protein signal transduction  positive regulation of cartilage development  co-SMAD binding  I-SMAD binding  I-SMAD binding  primary miRNA binding  SMAD protein complex  heteromeric SMAD protein complex  cellular response to organic cyclic compound  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  positive regulation of pri-miRNA transcription by RNA polymerase II  positive regulation of sprouting angiogenesis  
Ontology : EGO-EBIMAPK cascade  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  ureteric bud development  mesodermal cell fate commitment  osteoblast fate commitment  cardiac conduction system development  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleus  nucleus  nuclear inner membrane  nucleoplasm  cytoplasm  cytoplasm  cytosol  regulation of transcription by RNA polymerase II  protein phosphorylation  inflammatory response  signal transduction  transforming growth factor beta receptor signaling pathway  transforming growth factor beta receptor signaling pathway  SMAD protein complex assembly  gamete generation  negative regulation of cell population proliferation  anatomical structure morphogenesis  embryonic pattern specification  positive regulation of gene expression  integral component of membrane  protein deubiquitination  DEAD/H-box RNA helicase binding  protein kinase binding  cell differentiation  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  negative regulation of BMP signaling pathway  midbrain development  hindbrain development  primary miRNA processing  protein-containing complex  homeostatic process  identical protein binding  positive regulation of osteoblast differentiation  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  negative regulation of muscle cell differentiation  cartilage development  cardiac muscle cell proliferation  bone development  SMAD protein signal transduction  SMAD protein signal transduction  SMAD protein signal transduction  positive regulation of cartilage development  co-SMAD binding  I-SMAD binding  I-SMAD binding  primary miRNA binding  SMAD protein complex  heteromeric SMAD protein complex  cellular response to organic cyclic compound  positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  positive regulation of pri-miRNA transcription by RNA polymerase II  positive regulation of sprouting angiogenesis  
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
Homologs : HomoloGeneSMAD1
Homology/Alignments : Family Browser (UCSC)SMAD1
Gene fusions - Rearrangements
Fusion : MitelmanCLCN3/SMAD1 [4q33/4q31.21]  
Fusion : QuiverSMAD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMAD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMAD1
dbVarSMAD1
ClinVarSMAD1
MonarchSMAD1
1000_GenomesSMAD1 
Exome Variant ServerSMAD1
GNOMAD BrowserENSG00000170365
Varsome BrowserSMAD1
ACMGSMAD1 variants
VarityQ15797
Genomic Variants (DGV)SMAD1 [DGVbeta]
DECIPHERSMAD1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSMAD1
Mutations and Diseases : HGMDSMAD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMAD1
DgiDB (Drug Gene Interaction Database)SMAD1
DoCM (Curated mutations)SMAD1
CIViC (Clinical Interpretations of Variants in Cancer)SMAD1
Cancer3DSMAD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601595   
Orphanet
DisGeNETSMAD1
MedgenSMAD1
Genetic Testing Registry SMAD1
NextProtQ15797 [Medical]
GENETestsSMAD1
Target ValidationSMAD1
Huge Navigator SMAD1 [HugePedia]
ClinGenSMAD1
Clinical trials, drugs, therapy
MyCancerGenomeSMAD1
Protein Interactions : CTDSMAD1
Pharm GKB GenePA30524
PharosQ15797
Clinical trialSMAD1
Miscellaneous
canSAR (ICR)SMAD1
HarmonizomeSMAD1
DataMed IndexSMAD1
Probes
Litterature
PubMed281 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMAD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:07 CEST 2021

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