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Ampd1 Gene Detail
Summary
  • Symbol
    Ampd1
  • Name
    adenosine monophosphate deaminase 1
  • Synonyms
    Ampd-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88015
    NCBI Gene: 229665
  • Gene Overview
    MyGene.info: AMPD1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:103074014-103099720 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25707 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 45.25 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    AMPD1, adenosine monophosphate deaminase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AMPD1, adenosine monophosphate deaminase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MAD, MADA, MMDD
  • Links
    NCBI Gene ID: 270
    neXtProt AC: NX_P23109
    UniProt: P23109

  • Chr Location
    1p13.2; chr1:114673098-114695618 (-)  GRCh38.p7

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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.
Mice homozygous for a knock-out allele exhibit alterations in nucleotide metabolism but show normal muscle performance in different exercise protocols.
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
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000030299 VEGA Gene Model | MGI Sequence Detail 25707 C57BL/6J ±  kb
    transcript OTTMUST00000075010 VEGA | MGI Sequence Detail 2342 Not Applicable  
    polypeptide OTTMUSP00000039252 VEGA | MGI Sequence Detail 745 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      122 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 20
      cDNA 17
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
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    MGD-MRK-1307, MGD-MRK-1309, MGI:2139757
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 4
      Phenotypes 14
    • Earliest
      J:10446 Moseley WS, et al., Ampd-2 maps to distal mouse chromosome 3 in linkage with Ampd-1. Genomics. 1990 Mar;6(3):572-4
    • Latest
      J:240489 Pan Y, et al., Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression. Sci Rep. 2016 Oct 24;6:35970

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory