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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:60678933-60702091 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.84 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    218 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98299
protein coding gene Chr11:60678930-60702544 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018426
protein coding gene Chr11:60707038-60731995 (-)
A/J MGP_AJ_G0018395
protein coding gene Chr11:58472922-58497030 (-)
AKR/J MGP_AKRJ_G0018365
protein coding gene Chr11:60324470-60348056 (-)
BALB/cJ MGP_BALBcJ_G0018366
protein coding gene Chr11:58768546-58794208 (-)
C3H/HeJ MGP_C3HHeJ_G0018179
protein coding gene Chr11:60264490-60292253 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018818
protein coding gene Chr11:62629793-62654758 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016464
protein coding gene Chr11:55612007-55635575 (-)
CAST/EiJ MGP_CASTEiJ_G0017736
protein coding gene Chr11:60361953-60396116 (-)
CBA/J MGP_CBAJ_G0018153
protein coding gene Chr11:65352744-65379405 (-)
DBA/2J MGP_DBA2J_G0018262
protein coding gene Chr11:58057854-58082752 (-)
FVB/NJ MGP_FVBNJ_G0018253
protein coding gene Chr11:57720897-57744664 (-)
LP/J MGP_LPJ_G0018335
protein coding gene Chr11:61284041-61310542 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018277
protein coding gene Chr11:66417178-66444032 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018859
protein coding gene Chr11:60419126-60443429 (-)
PWK/PhJ MGP_PWKPhJ_G0017509
protein coding gene Chr11:58638115-58662047 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017299
protein coding gene Chr11:60233450-60258191 (-)
WSB/EiJ MGP_WSBEiJ_G0017788
protein coding gene Chr11:60039080-60062680 (-)



Homology
more
  • Human Ortholog
    SHMT1, serine hydroxymethyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHMT1, serine hydroxymethyltransferase 1
  • Synonyms
    CSHMT, SHMT
  • Links
    NCBI Gene ID: 6470
    neXtProt AC: NX_P34896
    UniProt: P34896

  • Chr Location
    17p11.2; chr17:18327873-18363550 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human SHMT1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 4 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    34 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.
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
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
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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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20425 NCBI Gene Model | MGI Sequence Detail 23159 C57BL/6J ±  kb
    transcript NM_001425412 RefSeq | MGI Sequence Detail 2040 C57BL/6  
    polypeptide P50431 UniProt | EBI | MGI Sequence Detail 478 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • 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 domain
      IPR015422 Pyridoxal phosphate-dependent transferase, small domain
      IPR001085 Serine hydroxymethyltransferase
      IPR039429 Serine hydroxymethyltransferase-like domain
      IPR019798 Serine hydroxymethyltransferase, pyridoxal phosphate binding site
    Molecular
    Reagents
    less
    • All nucleic 140
      cDNA 138
      Primer pair 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-14406, MGI:2144126, MGI:2144138, MGI:2144665
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 8
      Phenotypes 34
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:321836 Zhao K, et al., LONP1-mediated mitochondrial quality control safeguards metabolic shifts in heart development. Development. 2022 Mar 15;149(6):dev200458

    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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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory