AMPD1 adenosine monophosphate deaminase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMPD1provided by HGNC
Official Full Name: adenosine monophosphate deaminase 1provided by HGNC
Primary source: HGNC:HGNC:468
See related: Ensembl:ENSG00000116748 MIM:102770; AllianceGenome:HGNC:468
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MAD; MADA; MMDD
Summary: Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Expression: Biased expression in duodenum (RPKM 8.5), prostate (RPKM 4.6) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (114673098..114695546, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (114684545..114707007, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (115215719..115238167, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.
Title: AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.
Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.
Title: Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.
T allele of AMPD1 gene C34T polymorphism may be correlated with LVEF, LVEDD and SBP, which plays a protective role in the cardiac functions and blood pressure in cardiovascular disease patients.
Title: Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.
The metabolic-chronotropic response is decreased in skeletal muscle MAD deficiency, suggesting a biological mechanism by which AMPD1 gene exerts cardiac effect
Title: Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome.
Title: Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
Common polymorphism of the AMPD1 gene (C34T) is strongly associated with essential hypertension.
Title: Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients.
AMPD1 could have a profound influence on cholinergic neurotransmission and sleep; further studies are mandatory
Title: Possible influence of AMPD1 on cholinergic neurotransmission and sleep.
AMPD1 34C>T variant is associated with higher infection susceptibility to community acquired pneumonia but not to ventilator associated pneumonia in sepsis pateints
Title: Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients.
Mutational variants in AMPD1 contribute to autism risk in Han Chinese population, via mitochondria dysfunction and cell necrosis.
Title: AMPD1 functional variants associated with autism in Han Chinese population.
The best response to creatine in terms of physical performance was presented by AMPD1 CC genotype.
Title: Effect of creatine supplementation on physical performance are related to the AMPD1 and PPARG genes polymorphisms in football players.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Muscle AMP deaminase deficiency MedGen: C3714933 OMIM: 615511 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common genetic variants on 1p13.2 associate with risk of autism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AMPD1 (e-PCR)
- UniSTS:503830

D1S3310 (e-PCR)
- UniSTS:154693

CHLC.GGAA25C10 (e-PCR)
- UniSTS:74080

D1S2069E (e-PCR)
- UniSTS:151652

AI553520 (e-PCR)
- UniSTS:164216

Gene Ontology Provided by GOA

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	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in GMP salvage	IDA Inferred from Direct Assay 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

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: AMP deaminase 1

Names: AMPD; adenosine monophosphate deaminase 1 (isoform M); adenosine monophosphate deaminase-1 (muscle); myoadenylate deaminase; skeletal muscle AMPD

NP_000027.3

EC 3.5.4.6

NP_001166097.2

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.

Genomic

NG_008012.1 RefSeqGene

Range

5010..27458

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000036.3 → NP_000027.3 AMP deaminase 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL096773

Consensus CDS

CCDS876.3

UniProtKB/Swiss-Prot

A8K5N4, B2RAM1, F2Z3B3, P23109, Q5TF00, Q5TF02

Related

ENSP00000430075.3, ENST00000520113.7

Conserved Domains (1) summary

cd01319
Location:240 → 736

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.
NM_001172626.2 → NP_001166097.2 AMP deaminase 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon in the 5' region, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AL096773

Consensus CDS

CCDS53349.2

Related

ENSP00000358551.4, ENST00000369538.4

Conserved Domains (1) summary

cd01319
Location:236 → 732

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.