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Amt Gene Detail
Summary
  • Symbol
    Amt
  • Name
    aminomethyltransferase
  • Synonyms
    EG434437
  • Feature Type
    protein coding gene
  • IDs
    MGI:3646700
    NCBI Gene: 434437
Location & Maps
more
  • Sequence Map
    Chr9:108296853-108302302 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5450 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    AMT, aminomethyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AMT, aminomethyltransferase
    Orthology source: HomoloGene
  • Synonyms
    GCE, GCST, GCVT, NKH
  • Links
    NCBI Gene ID: 275
    neXtProt AC: NX_P48728

  • Chr Location
    3p21.31; chr3:49416778-49422678 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human AMT associations

Human Disease Mouse Models
       Glycine Encephalopathy; GCE   OMIM: 605899
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Gene trapped
    18
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for a gene trapped allele develop neural tubes defects at high frequency and exhibit prenatal lethality.
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 OTTMUSG00000032968 VEGA Gene Model | MGI Sequence Detail 5450 C57BL/6J ±  kb
transcript OTTMUST00000082195 VEGA | MGI Sequence Detail 2082 Not Applicable  
polypeptide OTTMUSP00000044035 VEGA | MGI Sequence Detail 403 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    24 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004005 aminomethyltransferase, mitochondrial
  • EC
  • InterPro Domains
    IPR028896 Aminomethyltransferase/Dimethylsulfonioproprionate demethylase DmdA
    IPR006223 Glycine cleavage system T protein
    IPR013977 Glycine cleavage T-protein, C-terminal barrel domain
    IPR006222 Glycine cleavage T-protein-like, N-terminal
    IPR029043 Glycine cleavage T-protein/YgfZ, C-terminal domain
    IPR027266 GTP-binding protein TrmE/Glycine cleavage system T protein, domain 1
Molecular
Reagents
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  • All nucleic 5
    cDNA 4
    Primer pair 1

    Microarray probesets 1
References
more
  • Summaries
    All 25
    Developmental Gene Expression 1
    Gene Ontology 4
    Phenotypes 8
  • Earliest
    J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
  • Latest
    J:181568 Narisawa A, et al., Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans. Hum Mol Genet. 2012 Apr 1;21(7):1496-503

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory