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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
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

  • Chr Location
    9q21.33; chr9:85546539-85742029 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Agtpbp1 mouse models

Human Disease Mouse Models
       Retinitis Pigmentosa; RP   OMIM: 268000 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
    47 phenotypes from 12 alleles in 14 genetic backgrounds
    3 images
    124 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.
  • All Mutations and Alleles
    20
  • Chemically induced (ENU)
    5
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Spontaneous
    6
  • Transgenic
    1
  • Genomic Mutations
    1 involving Agtpbp1
  • Incidental Mutations
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
receptor
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
Interactions
less
Sequences &
Gene Models
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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 78
    Genomic 1
    cDNA 74
    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 154
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 16
    Phenotypes 124
  • Earliest
    J:5597 Mullen RJ, et al., Two types of retinal degeneration in cerebellar mutant mice. Nature. 1975 Dec 11;258(5535):528-30
  • Latest
    J:231311 Xia P, et al., Glutamylation of the DNA sensor cGAS regulates its binding and synthase activity in antiviral immunity. Nat Immunol. 2016 Apr;17(4):369-78

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
08/17/2016
MGI 6.05
The Jackson Laboratory