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Shmt1 Gene Detail
Summary
  • Symbol
    Shmt1
  • Name
    serine hydroxymethyltransferase 1 (soluble)
  • Synonyms
    mshmt, mshmt1, mshmt2, Shmt
  • Feature Type
    protein coding gene
  • IDs
    MGI:98299
    NCBI Gene: 20425
Location & Maps
more
  • Sequence Map
    Chr11:60788104-60811718 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23615 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.84 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SHMT1, serine hydroxymethyltransferase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SHMT1, serine hydroxymethyltransferase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CSHMT, SHMT
  • Links
    NCBI Gene ID: 6470
    neXtProt AC: NX_P34896

  • Chr Location
    17p11.2; chr17:18327860-18363563 (-)  GRCh38.p2

Human Diseases
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  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 3 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    28 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.
  • All Mutations and Alleles
    44
  • Chemically induced (other)
    1
  • Gene trapped
    36
  • Targeted
    7
  • Genomic Mutations
    3 involving Shmt1
  • Incidental Mutations
Mice with deficiencies in this gene display abnormalities in hepatic partioning of methylenetetrahydrofolate but are otherwise healthy and fertile.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007760 VEGA Gene Model | MGI Sequence Detail 23615 C57BL/6J ±  kb
transcript OTTMUST00000017725 VEGA | MGI Sequence Detail 2858 Not Applicable  
polypeptide OTTMUSP00000008170 VEGA | MGI Sequence Detail 478 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    219 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000014847 serine hydroxymethyltransferase, cytosolic
  • PDB
  • EC
  • InterPro Domains
    IPR015424 Pyridoxal phosphate-dependent transferase
    IPR015421 Pyridoxal phosphate-dependent transferase, major region, subdomain 1
    IPR015422 Pyridoxal phosphate-dependent transferase, major region, subdomain 2
    IPR001085 Serine hydroxymethyltransferase
    IPR019798 Serine hydroxymethyltransferase, pyridoxal phosphate binding site
Molecular
Reagents
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  • All nucleic 139
    cDNA 138
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
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MGD-MRK-14406, MGI:2144126, MGI:2144138, MGI:2144665
References
more
  • Summaries
    All 48
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 7
    Phenotypes 28
  • Earliest
    J:36385 Nakshatri H, et al., Isolation of retinoic acid-repressed genes from P19 embryonal carcinoma cells. Gene. 1996 Sep 26;174(1):79-84
  • Latest
    J:217757 Field MS, et al., Nuclear enrichment of folate cofactors and methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) protect de novo thymidylate biosynthesis during folate deficiency. J Biol Chem. 2014 Oct 24;289(43):29642-50

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
11/29/2016
MGI 6.06
The Jackson Laboratory