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Ampd1 adenosine monophosphate deaminase 1 [ Mus musculus (house mouse) ]

Gene ID: 229665, updated on 27-Nov-2024

Summary

Official Symbol
Ampd1provided by MGI
Official Full Name
adenosine monophosphate deaminase 1provided by MGI
Primary source
MGI:MGI:88015
See related
Ensembl:ENSMUSG00000070385 AllianceGenome:MGI:88015
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ampd-1
Summary
Enables AMP deaminase activity. Involved in IMP salvage. Predicted to be active in cytosol. Is expressed in several structures, including diaphragm; foregut; liver; lung; and musculature. Human ortholog(s) of this gene implicated in congestive heart failure and coronary artery disease. Orthologous to human AMPD1 (adenosine monophosphate deaminase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in mammary gland adult (RPKM 31.3), limb E14.5 (RPKM 2.6) and 1 other tissue See more
Orthologs
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Genomic context

See Ampd1 in Genome Data Viewer
Location:
3 F2.2; 3 45.25 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (102981330..103007038)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (103073897..103099720)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_08583 Neighboring gene cold shock domain containing E1, RNA binding Neighboring gene STARR-seq mESC enhancer starr_08584 Neighboring gene neuroblastoma ras oncogene Neighboring gene STARR-seq mESC enhancer starr_08585 Neighboring gene STARR-seq mESC enhancer starr_08586 Neighboring gene DENN domain containing 2C Neighboring gene STARR-seq mESC enhancer starr_08590 Neighboring gene STARR-seq mESC enhancer starr_08592 Neighboring gene STARR-positive B cell enhancer mm9_chr3:102975364-102975665 Neighboring gene BCAS2 pre-mRNA processing factor

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (5)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables AMP deaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables AMP deaminase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables AMP deaminase activity ISO
Inferred from Sequence Orthology
more info
 
enables AMP deaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables myosin heavy chain binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in AMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in GMP salvage ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in IMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in IMP salvage IEA
Inferred from Electronic Annotation
more info
 
involved_in IMP salvage IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
AMP deaminase 1
Names
adenosine monophosphate deaminase 1 (isoform M)
myoadenylate deaminase
NP_001028475.2
XP_006501463.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033303.2NP_001028475.2  AMP deaminase 1

    See identical proteins and their annotated locations for NP_001028475.2

    Status: VALIDATED

    Source sequence(s)
    AC150894, AC163297
    Consensus CDS
    CCDS38571.1
    UniProtKB/Swiss-Prot
    F8VPY9, Q3V1D3
    UniProtKB/TrEMBL
    A0A0G2JFD4
    Related
    ENSMUSP00000088217.7, ENSMUST00000090715.13
    Conserved Domains (2) summary
    PLN03055
    Location:129740
    PLN03055; AMP deaminase; Provisional
    cd01319
    Location:238734
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    102981330..103007038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501400.5XP_006501463.2  AMP deaminase 1 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JFD4
    Conserved Domains (1) summary
    cd01319
    Location:234730
    AMPD; AMP deaminase (AMPD) catalyzes the hydrolytic deamination of adensosine monophosphate (AMP) at position 6 of the adenine nucleotide ring. AMPD is a diverse and highly regulated eukaryotic key enzyme of the adenylate catabolic pathway.