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

Gene ID: 272, updated on 7-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 LOC100130460 Neighboring gene VISTA enhancer hs2289 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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 IBA
Inferred from Biological aspect of Ancestor
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
 
AMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
GTP metabolic process IEA
Inferred from Electronic Annotation
more info
 
IMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    5015..61903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000480.3NP_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, ENST00000396554.7
    Conserved Domains (1) summary
    TIGR01429
    Location:155762
    AMP_deaminase; AMP deaminase
  2. NM_001025389.2NP_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, ENST00000396553.6
    Conserved Domains (2) summary
    PLN03055
    Location:146754
    PLN03055; AMP deaminase; Provisional
    TIGR01429
    Location:146753
    AMP_deaminase; AMP deaminase
  3. NM_001025390.2NP_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, ENST00000528723.5
    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, ENST00000529507.5
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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