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Mthfs Gene Detail
Summary
  • Symbol
    Mthfs
  • Name
    5, 10-methenyltetrahydrofolate synthetase
  • Synonyms
    1110034I12Rik, 2310020H23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1340032
    NCBI Gene: 107885
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:89093243-89122278 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 47.24 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    80 from dbSNP Build 142
  • Strain Annotations
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1340032
 protein coding gene Chr9:89092729-89259766 (+)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ no annotation
C57BL/6NJ no annotation
CAROLI/EiJ MGP_CAROLIEiJ_G0032510
 protein coding gene Chr9:85210895-85365302 (+)
CAST/EiJ MGP_CASTEiJ_G0034110
 protein coding gene Chr9:89388318-89424308 (+)
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



Homology
more
  • Human Ortholog
    MTERF1, mitochondrial transcription termination factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTERF1, mitochondrial transcription termination factor 1
  • Synonyms
    MTERF
  • Links
    NCBI Gene ID: 7978
    neXtProt AC: NX_Q99551
    UniProt: Q99551

  • Chr Location
    7q21.2; chr7:91692008-91880702 (-)  GRCh38
  • Human Ortholog
    MTHFS, methenyltetrahydrofolate synthetase
  • Synonyms
    HsT19268, NEDMEHM
  • Links
    NCBI Gene ID: 10588
    neXtProt AC: NX_P49914
    UniProt: P49914

  • Chr Location
    15q25.1; chr15:79833585-79897379 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    8 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 trap allele display embryonic lethality. Heterozygous mice display decreased de novo purine synthesis and reduced plasma folate levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    5
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
    811
  • Tissues
    97
  • cDNA Data
    6
  • Literature Summary
    4
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 107885 NCBI Gene Model | MGI Sequence Detail 29036 C57BL/6J ±  kb
transcript NM_026829 RefSeq | MGI Sequence Detail 768 C57BL/6  
polypeptide Q9D110 UniProt | EBI | MGI Sequence Detail 203 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    4 Sequences
  • EC
    6.3.3.2
  • InterPro Domains
    IPR002698 5-formyltetrahydrofolate cyclo-ligase
    IPR024185 5-formyltetrahydrofolate cyclo-ligase-like domain superfamily
    IPR037171 NagB/RpiA transferase-like
Molecular
Reagents
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  • All nucleic 10
    cDNA 8
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:1915997, MGI:1922835, MGI:2142982
References
more
  • Summaries
    All 43
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 8
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory