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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:108174104-108179501 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 59.19 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    24 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3646700
 protein coding gene Chr9:108174052-108179501 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035290
 protein coding gene Chr9:110242196-110247663 (+)
A/J MGP_AJ_G0035269
 protein coding gene Chr9:106205503-106210973 (+)
AKR/J MGP_AKRJ_G0035201
 protein coding gene Chr9:108855783-108861233 (+)
BALB/cJ MGP_BALBcJ_G0035263
 protein coding gene Chr9:105903338-105908803 (+)
C3H/HeJ MGP_C3HHeJ_G0034973
 protein coding gene Chr9:109252424-109257807 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035783
 protein coding gene Chr9:113225600-113233483 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032681
 protein coding gene Chr9:103637526-103642889 (+)
CAST/EiJ MGP_CASTEiJ_G0034284
 protein coding gene Chr9:109224412-109230376 (+)
CBA/J MGP_CBAJ_G0034941
 protein coding gene Chr9:117237788-117243363 (+)
DBA/2J MGP_DBA2J_G0035102
 protein coding gene Chr9:105662984-105668398 (+)
FVB/NJ MGP_FVBNJ_G0035050
 protein coding gene Chr9:104428208-104433688 (+)
LP/J MGP_LPJ_G0035178
 protein coding gene Chr9:110441132-110447194 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035089
 protein coding gene Chr9:118820861-118826289 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035804
 protein coding gene Chr9:109151626-109157072 (+)
PWK/PhJ MGP_PWKPhJ_G0033991
 protein coding gene Chr9:105989872-105995409 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033826
 protein coding gene Chr9:109197722-109214590 (+)
WSB/EiJ MGP_WSBEiJ_G0034405
 protein coding gene Chr9:109023439-109029846 (+)



Homology
more
  • Human Ortholog
    AMT, aminomethyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AMT, aminomethyltransferase
  • Synonyms
    GCE, GCE2, GCST, GCVT, NKH
  • Links
    NCBI Gene ID: 275
    neXtProt AC: NX_P48728
    UniProt: P48728

  • Chr Location
    3p21.31; chr3:49416778-49422685 (-)  GRCh38
  • MGI Vertebrate Homology
    Amt stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: AMT
  • Protein SuperFamily
    GcvT
  • Gene Tree
    Amt
Human Diseases
more
  • Diseases
    1 with human AMT associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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 homozygous for a gene trapped allele develop neural tubes defects at high frequency and exhibit prenatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    6
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
    805
  • Tissues
    97
  • cDNA Data
    5
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 434437 NCBI Gene Model | MGI Sequence Detail 5398 C57BL/6J ±  kb
    transcript NM_001013814 RefSeq | MGI Sequence Detail 2047 C57BL/6  
    polypeptide Q8CFA2 UniProt | EBI | MGI Sequence Detail 403 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000004005 aminomethyltransferase, mitochondrial
      (term hierarchy)
    • EC
      2.1.2.10
    • InterPro Domains
      IPR006222 Aminomethyltransferase, folate-binding domain
      IPR028896 Aminomethyltransferase-like
      IPR006223 Glycine cleavage system T protein
      IPR013977 Glycine cleavage T-protein, C-terminal barrel domain
      IPR029043 Glycine cleavage T-protein/YgfZ, C-terminal
      IPR027266 GTP-binding protein TrmE/Aminomethyltransferase GcvT, domain 1
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 5
      Primer pair 2

      Microarray probesets 1
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 5
      Gene Ontology 6
      Phenotypes 10
    • 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:338257 Peng MZ, et al., Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism. Cell Mol Life Sci. 2022 Jun 21;79(7):375
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory