Human Gene AMPD3 (ENST00000396553.7_6) from GENCODE V47lift37
  Description: adenosine monophosphate deaminase 3, transcript variant 2 (from RefSeq NM_001025389.2)
Gencode Transcript: ENST00000396553.7_6
Gencode Gene: ENSG00000133805.16_16
Transcript (Including UTRs)
   Position: hg19 chr11:10,476,811-10,529,126 Size: 52,316 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr11:10,483,067-10,527,431 Size: 44,365 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:10,476,811-10,529,126)mRNA (may differ from genome)Protein (767 aa)
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-  Comments and Description Text from UniProtKB
  ID: AMPD3_HUMAN
DESCRIPTION: RecName: Full=AMP deaminase 3; EC=3.5.4.6; AltName: Full=AMP deaminase isoform E; AltName: Full=Erythrocyte AMP deaminase;
FUNCTION: AMP deaminase plays a critical role in energy metabolism.
CATALYTIC ACTIVITY: AMP + H(2)O = IMP + NH(3).
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
PATHWAY: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.
SUBUNIT: Homotetramer.
TISSUE SPECIFICITY: Isoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes.
DISEASE: Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]; also known as erythrocyte AMP deaminase deficiency. AMPDDE is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.
SIMILARITY: Belongs to the adenosine and AMP deaminases family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AMPD3
Diseases sorted by gene-association score: adenosine monophosphate deaminase deficiency erythrocyte type* (332), adenosine monophosphate deaminase 1 deficiency* (247), erythrocyte amp deaminase deficiency* (130), glycogen storage disease vii (10), mcardle disease (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.18 RPKM in Muscle - Skeletal
Total median expression: 159.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.10190-0.385 Picture PostScript Text
3' UTR -465.001695-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006650 - A/AMP_deam_AS
IPR001365 - A/AMP_deaminase_dom
IPR006329 - AMP_deaminase

Pfam Domains:
PF00962 - Adenosine deaminase
PF19326 - AMP deaminase

SCOP Domains:
51556 - Metallo-dependent hydrolases

ModBase Predicted Comparative 3D Structure on Q01432
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003876 AMP deaminase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0019239 deaminase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006188 IMP biosynthetic process
GO:0006196 AMP catabolic process
GO:0009117 nucleotide metabolic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0032264 IMP salvage
GO:0034101 erythrocyte homeostasis
GO:0043101 purine-containing compound salvage
GO:0043312 neutrophil degranulation
GO:0046031 ADP metabolic process
GO:0046033 AMP metabolic process
GO:0046034 ATP metabolic process
GO:0046039 GTP metabolic process
GO:0097009 energy homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0034774 secretory granule lumen
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  AK295046 - Homo sapiens cDNA FLJ52427 complete cds, highly similar to AMP deaminase 3 (EC 3.5.4.6).
BC126118 - Homo sapiens adenosine monophosphate deaminase (isoform E), mRNA (cDNA clone MGC:161396 IMAGE:8991834), complete cds.
AK311436 - Homo sapiens cDNA, FLJ18478.
M84720 - Human AMP deaminase (AMPD3) mRNA, 5' end.
AK313039 - Homo sapiens cDNA, FLJ93512.
AK289998 - Homo sapiens cDNA FLJ76195 complete cds, highly similar to Homo sapiens adenosine monophosphate deaminase (isoform E) (AMPD3),mRNA.
AK294444 - Homo sapiens cDNA FLJ55301 complete cds, highly similar to AMP deaminase 3 (EC 3.5.4.6).
HQ258646 - Synthetic construct Homo sapiens clone IMAGE:100072676 adenosine monophosphate deaminase 3 (AMPD3) gene, encodes complete protein.
KJ890670 - Synthetic construct Homo sapiens clone ccsbBroadEn_00064 AMPD3 gene, encodes complete protein.
KR711664 - Synthetic construct Homo sapiens clone CCSBHm_00028356 AMPD3 (AMPD3) mRNA, encodes complete protein.
KR711665 - Synthetic construct Homo sapiens clone CCSBHm_00028358 AMPD3 (AMPD3) mRNA, encodes complete protein.
KR711666 - Synthetic construct Homo sapiens clone CCSBHm_00028363 AMPD3 (AMPD3) mRNA, encodes complete protein.
KR711667 - Synthetic construct Homo sapiens clone CCSBHm_00028365 AMPD3 (AMPD3) mRNA, encodes complete protein.
D12775 - Homo sapiens ampd-3 mRNA for erythrocyte-specific AMP deaminase, complete cds.
AK308181 - Homo sapiens cDNA, FLJ98129.
M84721 - Human AMP deaminase (AMPD3) mRNA, complete cds.
AK299113 - Homo sapiens cDNA FLJ51949 complete cds, highly similar to AMP deaminase 3 (EC 3.5.4.6).
AK311711 - Homo sapiens cDNA, FLJ18753.
M84722 - Human AMP deaminase (AMPD3) mRNA, 5' end.
AK301507 - Homo sapiens cDNA FLJ51124 complete cds, highly similar to AMP deaminase 3 (EC 3.5.4.6).
AK311607 - Homo sapiens cDNA, FLJ18649.
AK302970 - Homo sapiens cDNA FLJ52453 complete cds, highly similar to AMP deaminase 3 (EC 3.5.4.6).
AK311279 - Homo sapiens cDNA, FLJ18321.
JD334070 - Sequence 315094 from Patent EP1572962.
JD345014 - Sequence 326038 from Patent EP1572962.
JD049578 - Sequence 30602 from Patent EP1572962.
JD403408 - Sequence 384432 from Patent EP1572962.
JD484241 - Sequence 465265 from Patent EP1572962.
JD428524 - Sequence 409548 from Patent EP1572962.
JD500095 - Sequence 481119 from Patent EP1572962.
JD553950 - Sequence 534974 from Patent EP1572962.
JD495165 - Sequence 476189 from Patent EP1572962.
JD084089 - Sequence 65113 from Patent EP1572962.
JD368062 - Sequence 349086 from Patent EP1572962.
JD353349 - Sequence 334373 from Patent EP1572962.
CQ873721 - Sequence 140 from Patent WO2004076622.
DD413558 - Regulation of Mammalian Cells.
JD252982 - Sequence 234006 from Patent EP1572962.
JD427858 - Sequence 408882 from Patent EP1572962.
JD345829 - Sequence 326853 from Patent EP1572962.
JD242393 - Sequence 223417 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q01432 (Reactome details) participates in the following event(s):

R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-76590 AMP + H2O => IMP + NH4+ (AMPD)
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-74217 Purine salvage
R-HSA-168256 Immune System
R-HSA-8956321 Nucleotide salvage
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A0AUX0, AMPD3 , AMPD3_HUMAN, B7Z2S2, B7Z763, B7Z877, ENST00000396553.1, ENST00000396553.2, ENST00000396553.3, ENST00000396553.4, ENST00000396553.5, ENST00000396553.6, NM_001025389, Q01432, uc318yic.1, uc318yic.2
UCSC ID: ENST00000396553.7_6
RefSeq Accession: NM_001025389.2
Protein: Q01432 (aka AMPD3_HUMAN or AMD3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.