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Smad1
Gene Detail
Symbol

Name
ID
Smad1
SMAD family member 1
MGI:109452
Synonyms
Madh1, Madr1, Smad 1
Feature Type
protein coding gene
Genetic Map
Chromosome 8
37.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:79338395-79399518 bp, - strand
From VEGA annotation of GRCm38

  61124 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21196  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SMAD1
Protein SuperFamily: Smad protein
Gene Tree: Smad1

Human
homologs
SMAD1, SMAD family member 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4086
neXtProt AC: NX_Q15797

Human Synonyms: BSP1, BSP-1, JV41, JV4-1, MADH1, MADR1

Human Chr (Location): 4q31; chr4:145481306-145559176 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(5) Targeted(11)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10.
 
Mutations Annotated to Human Diseases (2)   
Interactions
Smad1 interacts with 297 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (74 annotations)
Process BMP signaling pathway, bone development, ...
Component cytoplasm, intracellular, ...
Function co-SMAD binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (326 records)
Data Summary: Results (544)    Tissues (318)    Images (114)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 83
RNA in situ 291
Northern blot 6
Western blot 65
RT-PCR 99
cDNA source data(70)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA SMAD1 ; Xenbase smad1 ; ZFIN smad1    NEW 
Molecular
reagents
All nucleic(88) cDNA(76) Primer pair(10) Other(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000021109 (Evidence)
Ensembl Gene Model ENSMUSG00000031681 (Evidence)
Entrez Gene 17125 (Evidence)
UniGene 223717
DFCI TC1574892
DoTS DT.91508201, DT.101708497, DT.101141947
NIA Mouse Gene Index U029992
PDB 3KMP
Consensus CDS Project CCDS22437.1
International Mouse Phenotyping Consortium Status Smad1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021109 VEGA Gene Model | MGI Sequence Detail 61124 C57BL/6J ±  kb
transcript OTTMUST00000049956 VEGA | MGI Sequence Detail 3099 Not Applicable 
polypeptide OTTMUSP00000023243 VEGA | MGI Sequence Detail 465 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(209 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013790 Dwarfin
InterPro IPR003619 MAD homology 1, Dwarfin-type
InterPro IPR013019 MAD homology, MH1
InterPro IPR001132 SMAD domain, Dwarfin-type
InterPro IPR017855 SMAD domain-like
InterPro IPR008984 SMAD/FHA domain
Protein Ontology PR:000000363 smad1
References
(Earliest) J:51722 Yingling JM, et al., Mammalian dwarfins are phosphorylated in response to transforming growth factor beta and are implicated in control of cell growth. Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):8940-4
(Latest) J:220362 Sun Y, et al., Trps1 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression. Biochem Biophys Res Commun. 2015 Jan 16;456(3):721-6
All references(418)
Other
accession IDs
MGD-MRK-38497, MGI:2142582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory