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Agtpbp1 Gene Detail
Summary
  • Symbol
    Agtpbp1
  • Name
    ATP/GTP binding protein 1
  • Synonyms
    1700020N17Rik, 2310001G17Rik, 2900054O13Rik, 4930445M19Rik, 5730402G09Rik, Ccp1, nmf243, Nna1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2159437
    NCBI Gene: 67269
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:59449537-59585227 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      135691 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 31.87 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    AGTPBP1, ATP/GTP binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AGTPBP1, ATP/GTP binding protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CCP1, NNA1
  • Links
    NCBI Gene ID: 23287
    neXtProt AC: NX_Q9UPW5
    UniProt: Q9UPW5

  • Chr Location
    9q21.33; chr9:85543799-85742029 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Agtpbp1 mouse models

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
    51 phenotypes from 12 alleles in 15 genetic backgrounds
    1 phenotype from multigenic genotypes
    3 images
    132 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile.
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 OTTMUSG00000035354 VEGA Gene Model | MGI Sequence Detail 135691 C57BL/6J ±  kb
    transcript OTTMUST00000090298 VEGA | MGI Sequence Detail 4356 Not Applicable  
    polypeptide OTTMUSP00000049503 VEGA | MGI Sequence Detail 1218 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      962 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 79
      Genomic 1
      cDNA 75
      Primer pair 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-13173, MGI:1914519, MGI:1916623, MGI:1921986, MGI:1922111, MGI:1923828, MGI:2145471, MGI:97500
    References
    more
    • Summaries
      All 165
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 16
      Phenotypes 132
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:263824 Munoz-Castaneda R, et al., Cytoskeleton stability is essential for the integrity of the cerebellum and its motor- and affective-related behaviors. Sci Rep. 2018 Feb 15;8(1):3072

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory