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Smad1 Gene Detail
Summary
  • Symbol
    Smad1
  • Name
    SMAD family member 1
  • Synonyms
    Madh1, Madr1, Smad 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:109452
    NCBI Gene: 17125
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:79338395-79399468 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 37.56 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    209 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109452
protein coding gene Chr8:79338395-79399518 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033812
protein coding gene Chr8:79998831-80061529 (-)
A/J MGP_AJ_G0033794
protein coding gene Chr8:76813662-76875549 (-)
AKR/J MGP_AKRJ_G0033721
protein coding gene Chr8:79118178-79179275 (-)
BALB/cJ MGP_BALBcJ_G0033788
protein coding gene Chr8:76920076-76981195 (-)
C3H/HeJ MGP_C3HHeJ_G0033497
protein coding gene Chr8:79745599-79807380 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034308
protein coding gene Chr8:83072295-83141404 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031249
protein coding gene Chr8:70891241-70951802 (-)
CAST/EiJ MGP_CASTEiJ_G0032828
protein coding gene Chr8:79071938-79137370 (-)
CBA/J MGP_CBAJ_G0033476
protein coding gene Chr8:85991679-86052619 (-)
DBA/2J MGP_DBA2J_G0033629
protein coding gene Chr8:76525226-76586233 (-)
FVB/NJ MGP_FVBNJ_G0033574
protein coding gene Chr8:75491321-75552403 (-)
LP/J MGP_LPJ_G0033719
protein coding gene Chr8:80086321-80148213 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033617
protein coding gene Chr8:88568881-88635075 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034325
protein coding gene Chr8:79134019-79197564 (-)
PWK/PhJ MGP_PWKPhJ_G0032531
protein coding gene Chr8:75788630-75850463 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032369
protein coding gene Chr8:77936251-78000747 (-)
WSB/EiJ MGP_WSBEiJ_G0032941
protein coding gene Chr8:79465828-79528606 (-)



Homology
more
  • Human Ortholog
    SMAD1, SMAD family member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMAD1, SMAD family member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BSP1, BSP-1, JV41, JV4-1, MADH1, MADR1
  • Links
    NCBI Gene ID: 4086
    neXtProt AC: NX_Q15797
    UniProt: Q15797

  • Chr Location
    4q31.21; chr4:145481306-145559176 (+)  GRCh38.p7

Human Diseases
less
  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    61 phenotypes from 8 alleles in 13 genetic backgrounds
    36 phenotypes from multigenic genotypes
    50 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17125 NCBI Gene Model | MGI Sequence Detail 61074 C57BL/6J ±  kb
    transcript NM_008539 RefSeq | MGI Sequence Detail 3040 C57BL/6  
    polypeptide P70340 UniProt | EBI | MGI Sequence Detail 465 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 92
      cDNA 77
      Primer pair 13
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-38497, MGI:2142582
    References
    more
    • Summaries
      All 560
      Developmental Gene Expression 419
      Diseases 1
      Gene Ontology 41
      Phenotypes 50
    • 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:265524 Tasca A, et al., SMAD1/5 signaling in osteoclasts regulates bone formation via coupling factors. PLoS One. 2018;13(9):e0203404

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory