About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:102981330-103007036 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 45.25 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    697 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_88015
 protein coding gene Chr3:102981330-103007038 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027690
 protein coding gene Chr3:104317934-104344562 (+)
A/J MGP_AJ_G0027649
 protein coding gene Chr3:101003648-101029832 (+)
AKR/J MGP_AKRJ_G0027615
 protein coding gene Chr3:103490903-103516294 (+)
BALB/cJ MGP_BALBcJ_G0027662
 protein coding gene Chr3:100775788-100802481 (+)
C3H/HeJ MGP_C3HHeJ_G0027391
 protein coding gene Chr3:103820896-103846454 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028105
 protein coding gene Chr3:108194195-108225107 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025446
 protein coding gene Chr3:97147136-97172750 (+)
CAST/EiJ MGP_CASTEiJ_G0026848
 protein coding gene Chr3:102926802-102952401 (+)
CBA/J MGP_CBAJ_G0027366
 protein coding gene Chr3:111878724-111912043 (+)
DBA/2J MGP_DBA2J_G0027509
 protein coding gene Chr3:100259612-100286179 (+)
FVB/NJ MGP_FVBNJ_G0027477
 protein coding gene Chr3:98185454-98214912 (+)
LP/J MGP_LPJ_G0027616
 protein coding gene Chr3:105647121-105674528 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027506
 protein coding gene Chr3:118042501-118072108 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028160
 protein coding gene Chr3:102997215-103024278 (+)
PWK/PhJ MGP_PWKPhJ_G0026574
 protein coding gene Chr3:99997084-100024242 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026396
 protein coding gene Chr3:101090070-101116515 (+)
WSB/EiJ MGP_WSBEiJ_G0026927
 protein coding gene Chr3:103567825-103594549 (+)



Homology
more
  • Human Ortholog
    AMPD1, adenosine monophosphate deaminase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AMPD1, adenosine monophosphate deaminase 1
  • Synonyms
    MAD, MADA, MMDD
  • Links
    NCBI Gene ID: 270
    neXtProt AC: NX_P23109
    UniProt: P23109

  • Chr Location
    1p13.2; chr1:114673090-114695618 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human AMPD1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    21 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 knock-out allele exhibit alterations in nucleotide metabolism but show normal muscle performance in different exercise protocols.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    9
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
    882
  • Tissues
    111
  • cDNA Data
    15
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000070385 Ensembl Gene Model | MGI Sequence Detail 25707 C57BL/6J ±  kb
    transcript ENSMUST00000090715 Ensembl | MGI Sequence Detail 2342 Not Applicable  
    polypeptide ENSMUSP00000088217 Ensembl | MGI Sequence Detail 745 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 17
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-1307, MGD-MRK-1309, MGI:2139757
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 9
      Phenotypes 21
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory