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Ftsj1 Gene Detail
Summary
  • Symbol
    Ftsj1
  • Name
    FtsJ RNA 2'-O-methyltransferase 1
  • Synonyms
    Sfc12
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859648
    NCBI Gene: 54632
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:8104907-8118609 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.73 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    58 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859648
protein coding gene ChrX:8104907-8118645 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035545
protein coding gene ChrX:2893665-2908391 (-)
A/J MGP_AJ_G0035522
protein coding gene ChrX:2877288-2891136 (-)
AKR/J MGP_AKRJ_G0035455
protein coding gene ChrX:2980685-2994416 (-)
BALB/cJ MGP_BALBcJ_G0035519
protein coding gene ChrX:2860251-2874240 (-)
C3H/HeJ MGP_C3HHeJ_G0035227
protein coding gene ChrX:2952814-2967188 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036043
protein coding gene ChrX:2998232-3014769 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032918
protein coding gene ChrX:2385272-2399653 (-)
CAST/EiJ MGP_CASTEiJ_G0034528
protein coding gene ChrX:2832669-2847117 (-)
CBA/J MGP_CBAJ_G0035197
protein coding gene ChrX:3149544-3163969 (-)
DBA/2J MGP_DBA2J_G0035354
protein coding gene ChrX:2846838-2860532 (-)
FVB/NJ MGP_FVBNJ_G0035301
protein coding gene ChrX:2821156-2835231 (-)
LP/J MGP_LPJ_G0035431
protein coding gene ChrX:2911966-2925656 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035341
protein coding gene ChrX:3088746-3107236 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036061
protein coding gene ChrX:2875621-2889334 (-)
PWK/PhJ MGP_PWKPhJ_G0034228
protein coding gene ChrX:2790630-2804530 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034067
protein coding gene ChrX:2852716-2867881 (-)
WSB/EiJ MGP_WSBEiJ_G0034651
protein coding gene ChrX:2879892-2893630 (-)



Homology
more
  • Human Ortholog
    FTSJ1, FtsJ RNA 2'-O-methyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FTSJ1, FtsJ RNA 2'-O-methyltransferase 1
  • Synonyms
    CDLIV, JM23, MRX44, MRX9, SPB1, TRMT7, XLID9
  • Links
    NCBI Gene ID: 24140
    neXtProt AC: NX_Q9UET6
    UniProt: Q9UET6

  • Chr Location
    Xp11.23; chrX:48476021-48486364 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Ftsj1 mouse models; 1 with human FTSJ1 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    6 images
    16 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.
Males hemizygous for a null allele exhibit immature synaptic morphology and aberrant synaptic plasticity, impaired fear memory retrieval, impaired spatial learning and increased anxiety-like behavior.
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 54632 NCBI Gene Model | MGI Sequence Detail 13703 C57BL/6J ±  kb
    transcript NM_133991 RefSeq | MGI Sequence Detail 3389 C57BL/6  
    polypeptide Q8CBC7 UniProt | EBI | MGI Sequence Detail 324 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000029728 ribosomal RNA methyltransferase 1
    • EC
    • InterPro Domains
      IPR015507 Ribosomal RNA large subunit methyltransferase E
      IPR002877 Ribosomal RNA methyltransferase, FtsJ domain
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
      IPR028590 tRNA (cytidine(32)/guanosine(34)-2-O)-methyltransferase TRM7
    Molecular
    Reagents
    less
    • All nucleic 86
      Genomic 6
      cDNA 79
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147938
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 4
      Phenotypes 16
    • Earliest
      J:62168 Means GD, et al., A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. Genomics. 2000 May 1;65(3):213-23
    • Latest
      J:328916 Nagayoshi Y, et al., Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability. Sci Adv. 2021 Mar;7(13)

    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
    03/19/2024
    MGI 6.23
    The Jackson Laboratory