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

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: human all
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Genomic context

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMPD1 is an adenosine monophosphate deaminase that catalyzes the deamination of AMP to IMP. An elevated AMP level and almost complete lack of IMP was detected in the skeletal muscle of E18.5 Ampd1(tm1a/tm1a) mice.
Title: Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression.
AMPD1 deficiency activates AMPK/Akt/mTORC1/p70 S6 kinase axis in skeletal muscle after high fat diet challenge, but not in normal chow diet. These changes may contribute to improve insulin resistance.
Title: AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.
Disruption of the AMPD1 gene leads to a less severe state of insulin resistance, improved glucose tolerance and enhanced insulin clearance in mice fed a high-fat diet. Data suggest that AMPD may be a new drug target for reversing insulin resistance.
Title: AMPD1: a novel therapeutic target for reversing insulin resistance.
AMPD1 deficiency is acquired prior to overt muscle inflammation and is responsible, at least in part, for the muscle weakness that occurs in the mouse model of myositis.
Title: The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI553520 (e-PCR)
- UniSTS:164216

Ampd1 (e-PCR), detects polymorphism
- UniSTS:508561

Ampd1 (e-PCR), detects polymorphism
- UniSTS:464623

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

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Preferred Names: AMP deaminase 1

Names: adenosine monophosphate deaminase 1 (isoform M); myoadenylate deaminase

NP_001028475.2

EC 3.5.4.6

XP_006501463.2

EC 3.5.4.6

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)

NM_001033303.2 → NP_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:129 → 740

PLN03055; AMP deaminase; Provisional

cd01319
Location:238 → 734

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

102981330..103007038

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0G2JFD4

Conserved Domains (1) summary

cd01319
Location:234 → 730

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.