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Smyd1 Gene Detail
Summary
  • Symbol
    Smyd1
  • Name
    SET and MYND domain containing 1
  • Synonyms
    4632404M21Rik, Bop
  • Feature Type
    protein coding gene
  • IDs
    MGI:104790
    NCBI Gene: 12180
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:71190924-71239265 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 6, 32.14 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    422 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104790
protein coding gene Chr6:71190924-71299217 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030854
protein coding gene Chr6:71673684-71791705 (-)
A/J MGP_AJ_G0030824
protein coding gene Chr6:68922836-69031407 (-)
AKR/J MGP_AKRJ_G0030753
protein coding gene Chr6:70898589-71013890 (-)
BALB/cJ MGP_BALBcJ_G0030835
protein coding gene Chr6:68957538-69065338 (-)
C3H/HeJ MGP_C3HHeJ_G0030876
protein coding gene Chr6:113233632-113348523 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031293
protein coding gene Chr6:73557912-73685914 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028482
protein coding gene Chr6:68108319-68215175 (-)
CAST/EiJ MGP_CASTEiJ_G0029942
protein coding gene Chr6:70698734-70874555 (-)
CBA/J MGP_CBAJ_G0030522
protein coding gene Chr6:76479673-76608686 (-)
DBA/2J MGP_DBA2J_G0030674
protein coding gene Chr6:68295290-68404610 (-)
FVB/NJ MGP_FVBNJ_G0030627
protein coding gene Chr6:67666280-67775935 (-)
LP/J MGP_LPJ_G0030753
protein coding gene Chr6:71606700-71720787 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030662
protein coding gene Chr6:79983611-80103891 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031319
protein coding gene Chr6:70747222-70859007 (-)
PWK/PhJ MGP_PWKPhJ_G0029659
protein coding gene Chr6:67166198-67280304 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029487
protein coding gene Chr6:69456989-69567773 (-)
WSB/EiJ MGP_WSBEiJ_G0030025
protein coding gene Chr6:71083652-71200114 (-)



Homology
more
  • Human Ortholog
    SMYD1, SET and MYND domain containing 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMYD1, SET and MYND domain containing 1
  • Synonyms
    BOP, KMT3D, ZMYND18, ZMYND22
  • Links
    NCBI Gene ID: 150572
    neXtProt AC: NX_Q8NB12
    UniProt: Q8NB12

  • Chr Location
    2p11.2; chr2:88067825-88113384 (+)  GRCh38

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    11 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in embryonic lethality at E10.5. Mutant embryos exhibit an enlarged heart and developmental abnormalities of the right ventricle.
Gene Ontology
(GO)
Classifications
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  • 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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12180 NCBI Gene Model | MGI Sequence Detail 48342 C57BL/6J ±  kb
    transcript NM_001160127 RefSeq | MGI Sequence Detail 3379 ZRU/MplStud  
    polypeptide P97443 UniProt | EBI | MGI Sequence Detail 490 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 30
      Genomic 2
      cDNA 23
      Primer pair 3
      Other 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-28082, MGI:2141746
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 20
      Gene Ontology 7
      Phenotypes 11
    • Earliest
      J:29731 Hwang I, et al., Bop: a new T-cell-restricted gene located upstream of and opposite to mouse CD8b. Immunogenetics. 1995;42(5):353-61
    • Latest
      J:332132 Cattaneo P, et al., DOT1L regulates chamber-specific transcriptional networks during cardiogenesis and mediates postnatal cell cycle withdrawal. Nat Commun. 2022 Dec 2;13(1):7444

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory