About   Help   FAQ
Bud23 Gene Detail
Summary
  • Symbol
    Bud23
  • Name
    BUD23, rRNA methyltransferase and ribosome maturation factor
  • Synonyms
    1110003N24Rik, Wbscr22
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913388
    NCBI Gene: 66138
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:135081811-135093813 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 5, 74.97 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    76 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913388
protein coding gene Chr5:135081811-135093813 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030171
protein coding gene Chr5:139550095-139562095 (-)
A/J MGP_AJ_G0030139
protein coding gene Chr5:133577293-133589293 (-)
AKR/J MGP_AKRJ_G0030072
protein coding gene Chr5:137920744-137932743 (-)
BALB/cJ MGP_BALBcJ_G0030149
protein coding gene Chr5:134935105-134947107 (-)
C3H/HeJ MGP_C3HHeJ_G0029865
protein coding gene Chr5:138482071-138494071 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030602
protein coding gene Chr5:144773698-144785700 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027825
protein coding gene Chr5:127875634-127887428 (-)
CAST/EiJ MGP_CASTEiJ_G0029274
protein coding gene Chr5:137903202-137915205 (-)
CBA/J MGP_CBAJ_G0029835
protein coding gene Chr5:150437783-150449785 (-)
DBA/2J MGP_DBA2J_G0029986
protein coding gene Chr5:133480673-133492667 (-)
FVB/NJ MGP_FVBNJ_G0029941
protein coding gene Chr5:132614106-132626090 (-)
LP/J MGP_LPJ_G0030074
protein coding gene Chr5:139994819-140006821 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029973
protein coding gene Chr5:153456248-153468250 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030642
protein coding gene Chr5:137664793-137676793 (-)
PWK/PhJ MGP_PWKPhJ_G0028989
protein coding gene Chr5:132521907-132534277 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028824
protein coding gene Chr5:135226894-135240031 (-)
WSB/EiJ MGP_WSBEiJ_G0029348
protein coding gene Chr5:138416110-138431428 (-)



Homology
more
  • Human Ortholog
    BUD23, BUD23 rRNA methyltransferase and ribosome maturation factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BUD23, BUD23 rRNA methyltransferase and ribosome maturation factor
  • Synonyms
    HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22
  • Links
    NCBI Gene ID: 114049
    neXtProt AC: NX_O43709
    UniProt: O43709

  • Chr Location
    7q11.23; chr7:73683597-73698212 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with human BUD23 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 3 alleles in 3 genetic backgrounds
    20 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 knock-out allele exhibit complete embryonic lethality. Heterozygotes show partial lethality throughout fetal growth and development, increased citrate synthase activity indicating greater mitochondrial density, and male-specific mitochondrial dysfunction.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66138 NCBI Gene Model | MGI Sequence Detail 12003 C57BL/6J ±  kb
    transcript NM_001363324 RefSeq | MGI Sequence Detail 1813 C57BL/6  
    polypeptide Q9CY21 UniProt | EBI | MGI Sequence Detail 281 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      13 Sequences
    • Protein Ontology
      PR:000032057 probable 18S rRNA (guanine-N(7))-methyltransferase
    • EC
    • InterPro Domains
      IPR022238 18S rRNA (guanine(1575)-N(7))-methyltransferase Bud23, C-terminal
      IPR039769 18S rRNA (guanine(1575)-N(7))-methyltransferase Bud23-like
      IPR013216 Methyltransferase type 11
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 1
      cDNA 13
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 4
      Phenotypes 20
    • 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:337436 Abdalla N, et al., Dysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model. Int J Mol Sci. 2023 Jun 13;24(12)

    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.
    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory