AMPD3 (adenosine monophosphate deaminase 3)

2006-10-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 272
MIM: 102772
HGNC: 470
Ensembl: ENSG00000133805

Variants:

dbSNP: 272
ClinVar: 272
TCGA: ENSG00000133805
COSMIC: AMPD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133805ENST00000396553Q01432
ENSG00000133805ENST00000396554Q01432
ENSG00000133805ENST00000444303Q01432
ENSG00000133805ENST00000524866E9PLK6
ENSG00000133805ENST00000528723Q01432
ENSG00000133805ENST00000529507Q01432
ENSG00000133805ENST00000529744H0YDY8
ENSG00000133805ENST00000529834E9PKC5
ENSG00000133805ENST00000532250E9PPG2
ENSG00000133805ENST00000533116H0YDC3
ENSG00000133805ENST00000534047E9PIR5

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
184938422008Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC).4
166700712006The contribution of Ca+ calmodulin activation of human erythrocyte AMP deaminase (isoform E) to the erythrocyte metabolic dysregulation of familial phosphofructokinase deficiency.2
122138082002N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E.1
126043572003Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion.1
184095302008[AMPD genes and urate metabolism].1

Citation

Dessen P

AMPD3 (adenosine monophosphate deaminase 3)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43120/ampd3