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Ruvbl1 Gene Detail
Summary
  • Symbol
    Ruvbl1
  • Name
    RuvB-like protein 1
  • Synonyms
    2510009G06Rik, Pontin52, Tip49a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928760
    NCBI Gene: 56505
  • Gene Overview
    MyGene.info: RUVBL1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:88465409-88497572 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      32164 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 39.51 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    RUVBL1, RuvB like AAA ATPase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RUVBL1, RuvB like AAA ATPase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ECP54, ECP-54, INO80H, NMP238, NMP 238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
  • Links
    NCBI Gene ID: 8607
    neXtProt AC: NX_Q9Y265
    UniProt: Q9Y265

  • Chr Location
    3q21.3; chr3:128064612-128153914 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 3 alleles in 3 genetic backgrounds
    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.
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
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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
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000023968 VEGA Gene Model | MGI Sequence Detail 32164 C57BL/6J ±  kb
    transcript OTTMUST00000058579 VEGA | MGI Sequence Detail 1675 Not Applicable  
    polypeptide OTTMUSP00000028402 VEGA | MGI Sequence Detail 456 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      210 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 57

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1913734
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 16
    • 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:253681 Li Y, et al., Axonemal dynein assembly requires the R2TP complex component Pontin. Development. 2017 Dec 15;144(24):4684-4693

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory