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Ruvbl1 Gene Detail
Summary
  • Symbol
    Ruvbl1
  • Name
    RuvB-like AAA ATPase 1
  • Synonyms
    2510009G06Rik, Pontin52, Tip49a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928760
    NCBI Gene: 56505
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr6:88442391-88474548 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 39.51 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    806 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1928760
 protein coding gene Chr6:88442391-88474554 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031010
 protein coding gene Chr6:89862610-89894987 (+)
A/J MGP_AJ_G0030976
 protein coding gene Chr6:86406542-86439726 (+)
AKR/J MGP_AKRJ_G0030907
 protein coding gene Chr6:88895765-88926927 (+)
BALB/cJ MGP_BALBcJ_G0030989
 protein coding gene Chr6:86400536-86432487 (+)
C3H/HeJ MGP_C3HHeJ_G0030721
 protein coding gene Chr6:95526841-95559599 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031446
 protein coding gene Chr6:92289187-92322321 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028628
 protein coding gene Chr6:84562042-84595110 (+)
CAST/EiJ MGP_CASTEiJ_G0030098
 protein coding gene Chr6:88988555-89021084 (+)
CBA/J MGP_CBAJ_G0030673
 protein coding gene Chr6:95835729-95869978 (+)
DBA/2J MGP_DBA2J_G0030829
 protein coding gene Chr6:85695066-85726918 (+)
FVB/NJ MGP_FVBNJ_G0030782
 protein coding gene Chr6:84887374-84920375 (+)
LP/J MGP_LPJ_G0030906
 protein coding gene Chr6:89902109-89933700 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030815
 protein coding gene Chr6:99937451-99974068 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031473
 protein coding gene Chr6:88748607-88779780 (+)
PWK/PhJ MGP_PWKPhJ_G0029813
 protein coding gene Chr6:84672833-84706359 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029641
 protein coding gene Chr6:87556480-87590108 (+)
WSB/EiJ MGP_WSBEiJ_G0030179
 protein coding gene Chr6:89199117-89232828 (+)



Homology
more
  • Human Ortholog
    RUVBL1, RuvB like AAA ATPase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RUVBL1, RuvB like AAA ATPase 1
  • Synonyms
    ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
  • Links
    NCBI Gene ID: 8607
    neXtProt AC: NX_Q9Y265
    UniProt: Q9Y265

  • Chr Location
    3q21.3; chr3:128064778-128153914 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 3 alleles in 3 genetic backgrounds
    23 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 null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    86
  • GO References
    18
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
    754
  • Tissues
    41
  • cDNA Data
    57
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56505 NCBI Gene Model | MGI Sequence Detail 32158 C57BL/6J ±  kb
    transcript NM_019685 RefSeq | MGI Sequence Detail 1684 C57BL/6  
    polypeptide P60122 UniProt | EBI | MGI Sequence Detail 456 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 58

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1913734
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 5
      Gene Ontology 18
      Phenotypes 23
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory