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 zebrafish

Protein SuperFamily: Smad protein
Gene Tree: Smad1

Human homologs

Human Homolog		SMAD1, SMAD family member 1
NCBI Gene ID		4086
neXtProt AC		NX_Q15797
Human Synonyms		BSP1, BSP-1, JV41, JV4-1, MADH1, MADR1
Human Chr (Location)		4q31; chr4:146402951-146480328 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(16) : Targeted(11) Gene trapped(5)
 

Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10.

 
Human Diseases Modeled Using Mouse Smad1 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (60 annotations)

Process	BMP signaling pathway, bone development, ...
Component	cytoplasm, intracellular, ...
Function	co-SMAD binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (264 records)
Data Summary: Results (365)    Tissues (243)    Images (83)
Theiler Stages: 1, 2, 3, 4, 5, 9, 10, 11, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	31
RNA in situ	242
Northern blot	6
Western blot	7
RT-PCR	79

cDNA source data(71)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(86) cDNA(77) Primer pair(7) 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.101141947, DT.101708497, DT.91508201
NIA Mouse Gene Index	U029992
PDB	3KMP
Consensus CDS Project	CCDS22437.1
International Mouse Knockout Project Status	Smad1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021109	VEGA Gene Model | MGI Sequence Detail	61124	C57BL/6J
transcript	OTTMUST00000049956	VEGA | MGI Sequence Detail	3099	Not Applicable
polypeptide	OTTMUSP00000023243	VEGA | MGI Sequence Detail	465	Not Applicable

All sequences(43) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(183 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:191714 Jia S, et al., Roles of Bmp4 during tooth morphogenesis and sequential tooth formation. Development. 2013 Jan 15;140(2):423-32
All references(348)

Other accession IDs

MGD-MRK-38497, MGI:2142582