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AMPD3 adenosine monophosphate deaminase 3 [ Homo sapiens (human) ]

Gene ID: 272, updated on 5-Aug-2018

Summary

Official Symbol
AMPD3provided by HGNC
Official Full Name
adenosine monophosphate deaminase 3provided by HGNC
Primary source
HGNC:HGNC:470
See related
Ensembl:ENSG00000133805 MIM:102772; Vega:OTTHUMG00000165682
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
Summary
This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
Expression
Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues See more
Orthologs

Genomic context

See AMPD3 in Genome Data Viewer
Location:
11p15.4
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (10450321..10507579)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (10471846..10529126)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376544 Neighboring gene uncharacterized LOC100130460 Neighboring gene adrenomedullin Neighboring gene RNA, U6atac small nuclear 33, pseudogene Neighboring gene MT-RNR2 like 8 Neighboring gene microRNA 4485 Neighboring gene ring finger protein 141

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Erythrocyte AMP deaminase deficiency
MedGen: C2752073 OMIM: 612874 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, organism-specific biosystem (from REACTOME)
    Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Purine salvage, organism-specific biosystem (from REACTOME)
    Purine salvage, organism-specific biosystemNucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathway of purine biosynthesis. Nucleosides and free bases...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AMP deaminase activity EXP
Inferred from Experiment
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ADP metabolic process IEA
Inferred from Electronic Annotation
more info
 
AMP catabolic process TAS
Traceable Author Statement
more info
PubMed 
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GTP metabolic process IEA
Inferred from Electronic Annotation
more info
 
IMP salvage IEA
Inferred from Electronic Annotation
more info
 
energy homeostasis IEA
Inferred from Electronic Annotation
more info
 
erythrocyte homeostasis IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
AMP deaminase 3
Names
AMP aminohydrolase
adenosine monophosphate deaminase (isoform E)
erythrocyte AMP deaminase
erythrocyte type AMP deaminase
erythrocyte-specific AMP deaminase
myoadenylate deaminase
NP_000471.1
NP_001020560.1
NP_001020561.1
NP_001165901.1
NP_001165902.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_012041.1 RefSeqGene

    Range
    5001..61903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000480.2NP_000471.1  AMP deaminase 3 isoform 1A

    See identical proteins and their annotated locations for NP_000471.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1A).
    Source sequence(s)
    AC021914, M84720, M84722
    Consensus CDS
    CCDS7802.1
    UniProtKB/Swiss-Prot
    Q01432
    Related
    ENSP00000379802.3, OTTHUMP00000230743, ENST00000396554.7, OTTHUMT00000385783
    Conserved Domains (1) summary
    TIGR01429
    Location:155762
    AMP_deaminase; AMP deaminase
  2. NM_001025389.1NP_001020560.1  AMP deaminase 3 isoform 1B

    See identical proteins and their annotated locations for NP_001020560.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon for its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 1B, which has a shorter N-terminus, compared to isoform 1A.
    Source sequence(s)
    AC021914, D12775
    Consensus CDS
    CCDS41617.1
    UniProtKB/Swiss-Prot
    Q01432
    Related
    ENSP00000379801.2, OTTHUMP00000230746, ENST00000396553.6, OTTHUMT00000385787
    Conserved Domains (2) summary
    PLN03055
    Location:146754
    PLN03055; AMP deaminase; Provisional
    TIGR01429
    Location:146753
    AMP_deaminase; AMP deaminase
  3. NM_001025390.1NP_001020561.1  AMP deaminase 3 isoform 1C

    See identical proteins and their annotated locations for NP_001020561.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate, in-frame exon for its 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 1C, which has a shorter, distinct N-terminus, compared to isoform 1A.
    Source sequence(s)
    AC021914, M84722
    Consensus CDS
    CCDS44537.1
    UniProtKB/Swiss-Prot
    Q01432
    Related
    ENSP00000436987.1, OTTHUMP00000230748, ENST00000528723.5, OTTHUMT00000385789
    Conserved Domains (2) summary
    PLN03055
    Location:153761
    PLN03055; AMP deaminase; Provisional
    TIGR01429
    Location:153760
    AMP_deaminase; AMP deaminase
  4. NM_001172430.1NP_001165901.1  AMP deaminase 3 isoform 1B

    See identical proteins and their annotated locations for NP_001165901.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon for its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 1B, which has a shorter N-terminus, compared to isoform 1A.
    Source sequence(s)
    AC021914, DC401375, M84721
    Consensus CDS
    CCDS41617.1
    UniProtKB/Swiss-Prot
    Q01432
    Related
    ENSP00000431648.1, OTTHUMP00000230749, ENST00000529507.5, OTTHUMT00000385790
    Conserved Domains (2) summary
    PLN03055
    Location:146754
    PLN03055; AMP deaminase; Provisional
    TIGR01429
    Location:146753
    AMP_deaminase; AMP deaminase
  5. NM_001172431.1NP_001165902.1  AMP deaminase 3 isoform 4

    See identical proteins and their annotated locations for NP_001165902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon for its 5' UTR, lacks portions of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 4, which has a shorter N-terminus, compared to isoform 1A.
    Source sequence(s)
    AC021914, AK295046, BC126118
    Consensus CDS
    CCDS53601.1
    UniProtKB/Swiss-Prot
    Q01432
    Related
    ENSP00000396000.2, ENST00000444303.6
    Conserved Domains (2) summary
    PLN03055
    Location:20595
    PLN03055; AMP deaminase; Provisional
    TIGR01429
    Location:1594
    AMP_deaminase; AMP deaminase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    10450321..10507579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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