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Agtpbp1 Gene Detail
Summary
  • Symbol
    Agtpbp1
  • Name
    ATP/GTP binding protein 1
  • Synonyms
    1700020N17Rik, 2310001G17Rik, 2900054O13Rik, 4930445M19Rik, 5730402G09Rik, atms, Ccp1, nmf243, Nna1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2159437
    NCBI Gene: 67269
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:59597348-59705184 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13,
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3118 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2159437
 protein coding gene Chr13:59593556-59733041 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020637
 protein coding gene Chr13:59152736-59294266 (-)
A/J MGP_AJ_G0020591
 protein coding gene Chr13:56937109-57077676 (-)
AKR/J MGP_AKRJ_G0020569
 protein coding gene Chr13:58640422-58784185 (-)
BALB/cJ MGP_BALBcJ_G0020587
 protein coding gene Chr13:57202277-57338438 (-)
C3H/HeJ MGP_C3HHeJ_G0020386
 protein coding gene Chr13:58437842-58578148 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021021
 protein coding gene Chr13:60937880-61083803 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018603
 protein coding gene Chr13:54826996-54967694 (-)
CAST/EiJ MGP_CASTEiJ_G0019901
 protein coding gene Chr13:58624460-58782788 (-)
CBA/J MGP_CBAJ_G0020346
 protein coding gene Chr13:63237923-63395105 (-)
DBA/2J MGP_DBA2J_G0020469
 protein coding gene Chr13:56484038-56624707 (-)
FVB/NJ MGP_FVBNJ_G0020448
 protein coding gene Chr13:55970362-56105521 (-)
LP/J MGP_LPJ_G0020545
 protein coding gene Chr13:59414007-59553732 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020477
 protein coding gene Chr13:62556189-62699598 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021064
 protein coding gene Chr13:58248948-58388009 (-)
PWK/PhJ MGP_PWKPhJ_G0019656
 protein coding gene Chr13:56507260-56648527 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019483
 protein coding gene Chr13:57124305-57269394 (-)
WSB/EiJ MGP_WSBEiJ_G0019962
 protein coding gene Chr13:58693898-58834763 (-)



Homology
more
  • Human Ortholog
    AGTPBP1, ATP/GTP binding carboxypeptidase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AGTPBP1, ATP/GTP binding carboxypeptidase 1
  • Synonyms
    CCP1, CONDCA, NNA1
  • Links
    NCBI Gene ID: 23287
    neXtProt AC: NX_Q9UPW5
    UniProt: Q9UPW5

  • Chr Location
    9q21.33; chr9:85546539-85805483 (-)  GRCh38
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
less
  • Phenotype Summary
    64 phenotypes from 14 alleles in 19 genetic backgrounds
    17 phenotypes from multigenic genotypes
    3 images
    157 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.
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
less
  • All GO Annotations
    54
  • GO References
    22
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
membraneless 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
    878
  • Tissues
    51
  • cDNA Data
    73
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67269 NCBI Gene Model | MGI Sequence Detail 107837 C57BL/6J ±  kb
    transcript NM_001284221 RefSeq | MGI Sequence Detail 8864 ZRU/MplStud  
    polypeptide Q641K1 UniProt | EBI | MGI Sequence Detail 1218 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 80
      Genomic 1
      cDNA 75
      Primer pair 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-13173, MGI:1914519, MGI:1916623, MGI:1921986, MGI:1922111, MGI:1923828, MGI:2145471, MGI:3612156, MGI:97500
    References
    more
    • Summaries
      All 197
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 22
      Phenotypes 157
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:343289 Ho KH, et al., Choroid plexuses carry nodal-like cilia that undergo axoneme regression from early adult stage. Dev Cell. 2023 Dec 4;58(23):2641-2651.e6
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory