SMAD1 (SMAD family member 1)

2003-02-01  

Identity

HGNC
LOCATION
4q31.21
LOCUSID
ALIAS
BSP-1,BSP1,JV4-1,JV41,MADH1,MADR1
FUSION GENES

Other Information

Locus ID:

NCBI: 4086
MIM: 601595
HGNC: 6767
Ensembl: ENSG00000170365

Variants:

dbSNP: 4086
ClinVar: 4086
TCGA: ENSG00000170365
COSMIC: SMAD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170365ENST00000302085Q15797
ENSG00000170365ENST00000394092Q15797
ENSG00000170365ENST00000503324D6RBH9
ENSG00000170365ENST00000507367A0A1D5RMR4
ENSG00000170365ENST00000507594D6RAY1
ENSG00000170365ENST00000512019D6RD62
ENSG00000170365ENST00000514778D6REQ3
ENSG00000170365ENST00000514831D6RDN7
ENSG00000170365ENST00000515385Q15797

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179480512007Niche-mediated control of human embryonic stem cell self-renewal and differentiation.135
186847122009Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva.77
192116122009A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.62
203887152010Inflammation anergy in human intestinal macrophages is due to Smad-induced IkappaBalpha expression and NF-kappaB inactivation.62
192249172009Transforming Growth Factor {beta} Can Stimulate Smad1 Phosphorylation Independently of Bone Morphogenic Protein Receptors.61
183103192008Tumor cell cycle arrest induced by shear stress: Roles of integrins and Smad.60
162474762006Bone morphogenetic protein 2 stimulation of tumor growth involves the activation of Smad-1/5.50
187759912008Endoglin promotes transforming growth factor beta-mediated Smad 1/5/8 signaling and inhibits endothelial cell migration through its association with GIPC.43
170436552007Collagen type I-induced Smad-interacting protein 1 expression downregulates E-cadherin in pancreatic cancer.42
199962922009Autocrine bone morphogenetic protein-9 signals through activin receptor-like kinase-2/Smad1/Smad4 to promote ovarian cancer cell proliferation.41

Citation

Dessen P

SMAD1 (SMAD family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41228/smad1