UniProtKB - Q01432 (AMPD3_HUMAN)
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Protein
AMP deaminase 3
Gene
AMPD3
Organism
Homo sapiens (Human)
Status
Functioni
AMP deaminase plays a critical role in energy metabolism.
Catalytic activityi
AMP + H2O = IMP + NH3.
Cofactori
Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity
Pathwayi: IMP biosynthesis via salvage pathway
This protein is involved in step 1 of the subpathway that synthesizes IMP from AMP.Proteins known to be involved in this subpathway in this organism are:
- AMP deaminase 3 (AMPD3), AMP deaminase 1 (AMPD1), AMP deaminase 2 (AMPD2)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes IMP from AMP, the pathway IMP biosynthesis via salvage pathway and in Purine metabolism.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Metal bindingi | 317 | Zinc; catalyticBy similarity | 1 | |
| Metal bindingi | 319 | Zinc; catalyticBy similarity | 1 | |
| Binding sitei | 319 | SubstrateBy similarity | 1 | |
| Metal bindingi | 586 | Zinc; catalyticBy similarity | 1 | |
| Binding sitei | 589 | SubstrateBy similarity | 1 | |
| Active sitei | 608 | Proton acceptorPROSITE-ProRule annotation | 1 | |
| Metal bindingi | 663 | Zinc; catalyticBy similarity | 1 |
GO - Molecular functioni
- AMP deaminase activity Source: Reactome
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- ADP metabolic process Source: Ensembl
- AMP catabolic process Source: ProtInc
- ATP metabolic process Source: Ensembl
- energy homeostasis Source: Ensembl
- erythrocyte homeostasis Source: Ensembl
- GTP metabolic process Source: Ensembl
- IMP salvage Source: UniProtKB-UniPathway
- neutrophil degranulation Source: Reactome
- purine-containing compound salvage Source: Reactome
Keywordsi
| Molecular function | Hydrolase |
| Biological process | Nucleotide metabolism |
| Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
| Reactomei | R-HSA-6798695. Neutrophil degranulation. R-HSA-74217. Purine salvage. |
| SABIO-RKi | Q01432. |
| UniPathwayi | UPA00591; UER00663. |
Names & Taxonomyi
| Protein namesi | Recommended name: AMP deaminase 3 (EC:3.5.4.6)Alternative name(s): AMP deaminase isoform E Erythrocyte AMP deaminase |
| Gene namesi | Name:AMPD3 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| HGNCi | HGNC:470. AMPD3. |
Subcellular locationi
GO - Cellular componenti
- cytosol Source: Reactome
- extracellular region Source: Reactome
- ficolin-1-rich granule lumen Source: Reactome
- secretory granule lumen Source: Reactome
Pathology & Biotechi
Involvement in diseasei
Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612874| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_042606 | 310 | N → K in AMPDDE. 1 Publication | 1 | |
| Natural variantiVAR_042607 | 311 | V → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs117706710Ensembl. | 1 | |
| Natural variantiVAR_042608 | 320 | A → V in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs147542803Ensembl. | 1 | |
| Natural variantiVAR_042609 | 324 | M → T in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs750004231Ensembl. | 1 | |
| Natural variantiVAR_042610 | 331 | R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs758038726Ensembl. | 1 | |
| Natural variantiVAR_042611 | 402 | R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs766280048Ensembl. | 1 | |
| Natural variantiVAR_042612 | 450 | W → R in AMPDDE. 2 Publications | 1 | |
| Natural variantiVAR_009881 | 573 | R → C in AMPDDE; enzyme inactive. 1 PublicationCorresponds to variant dbSNP:rs3741040Ensembl. | 1 | |
| Natural variantiVAR_042614 | 585 | P → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs748852415Ensembl. | 1 | |
| Natural variantiVAR_042615 | 712 | Q → P in AMPDDE. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
| DisGeNETi | 272. |
| MalaCardsi | AMPD3. |
| MIMi | 612874. phenotype. |
| OpenTargetsi | ENSG00000133805. |
| Orphaneti | 45. Adenosine monophosphate deaminase deficiency. |
| PharmGKBi | PA24778. |
Chemistry databases
| ChEMBLi | CHEMBL2912. |
Polymorphism and mutation databases
| BioMutai | AMPD3. |
| DMDMi | 399033. |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| ChainiPRO_0000194410 | 1 – 767 | AMP deaminase 3Add BLAST | 767 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Modified residuei | 85 | PhosphoserineCombined sources | 1 | |
| Modified residuei | 107 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
| EPDi | Q01432. |
| MaxQBi | Q01432. |
| PaxDbi | Q01432. |
| PeptideAtlasi | Q01432. |
| PRIDEi | Q01432. |
PTM databases
| iPTMneti | Q01432. |
| PhosphoSitePlusi | Q01432. |
Expressioni
Gene expression databases
| Bgeei | ENSG00000133805. |
| CleanExi | HS_AMPD3. |
| ExpressionAtlasi | Q01432. baseline and differential. |
| Genevisiblei | Q01432. HS. |
Organism-specific databases
| HPAi | HPA038662. HPA047408. |
Interactioni
Subunit structurei
Homotetramer.
Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| HSP90AB1 | P08238 | 2 | EBI-1223554,EBI-352572 |
Protein-protein interaction databases
| BioGridi | 106769. 2 interactors. |
| IntActi | Q01432. 6 interactors. |
| STRINGi | 9606.ENSP00000379802. |
Chemistry databases
| BindingDBi | Q01432. |
Structurei
3D structure databases
| ProteinModelPortali | Q01432. |
| SMRi | Q01432. |
| ModBasei | Search... |
| MobiDBi | Search... |
Family & Domainsi
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 388 – 393 | Substrate bindingBy similarity | 6 | |
| Regioni | 664 – 667 | Substrate bindingBy similarity | 4 |
Sequence similaritiesi
Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.Curated
Phylogenomic databases
| eggNOGi | KOG1096. Eukaryota. COG1816. LUCA. |
| GeneTreei | ENSGT00390000008190. |
| HOGENOMi | HOG000092200. |
| HOVERGENi | HBG050494. |
| InParanoidi | Q01432. |
| KOi | K01490. |
| OMAi | HSLPYPD. |
| OrthoDBi | EOG091G01OU. |
| PhylomeDBi | Q01432. |
| TreeFami | TF300439. |
Family and domain databases
| CDDi | cd01319. AMPD. 1 hit. |
| InterProi | View protein in InterPro IPR006650. A/AMP_deam_AS. IPR001365. A/AMP_deaminase_dom. IPR006329. AMPD. IPR029771. AMPD3. IPR032466. Metal_Hydrolase. |
| PANTHERi | PTHR11359. PTHR11359. 1 hit. PTHR11359:SF12. PTHR11359:SF12. 1 hit. |
| Pfami | View protein in Pfam PF00962. A_deaminase. 1 hit. |
| PIRSFi | PIRSF001251. AMP_deaminase_met. 1 hit. |
| SFLDi | SFLDF00063. AMP_deaminase. 1 hit. |
| SUPFAMi | SSF51556. SSF51556. 1 hit. |
| TIGRFAMsi | TIGR01429. AMP_deaminase. 1 hit. |
| PROSITEi | View protein in PROSITE PS00485. A_DEAMINASE. 1 hit. |
Sequences (6)i
Sequence statusi: Complete.
This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1B (identifier: Q01432-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MPRQFPKLNI SEVDEQVRLL AEKVFAKVLR EEDSKDALSL FTVPEDCPIG
60 70 80 90 100
QKEAKERELQ KELAEQKSVE TAKRKKSFKM IRSQSLSLQM PPQQDWKGPP
110 120 130 140 150
AASPAMSPTT PVVTGATSLP TPAPYAMPEF QRVTISGDYC AGITLEDYEQ
160 170 180 190 200
AAKSLAKALM IREKYARLAY HRFPRITSQY LGHPRADTAP PEEGLPDFHP
210 220 230 240 250
PPLPQEDPYC LDDAPPNLDY LVHMQGGILF VYDNKKMLEH QEPHSLPYPD
260 270 280 290 300
LETYTVDMSH ILALITDGPT KTYCHRRLNF LESKFSLHEM LNEMSEFKEL
310 320 330 340 350
KSNPHRDFYN VRKVDTHIHA AACMNQKHLL RFIKHTYQTE PDRTVAEKRG
360 370 380 390 400
RKITLRQVFD GLHMDPYDLT VDSLDVHAGR QTFHRFDKFN SKYNPVGASE
410 420 430 440 450
LRDLYLKTEN YLGGEYFARM VKEVARELEE SKYQYSEPRL SIYGRSPEEW
460 470 480 490 500
PNLAYWFIQH KVYSPNMRWI IQVPRIYDIF RSKKLLPNFG KMLENIFLPL
510 520 530 540 550
FKATINPQDH RELHLFLKYV TGFDSVDDES KHSDHMFSDK SPNPDVWTSE
560 570 580 590 600
QNPPYSYYLY YMYANIMVLN NLRRERGLST FLFRPHCGEA GSITHLVSAF
610 620 630 640 650
LTADNISHGL LLKKSPVLQY LYYLAQIPIA MSPLSNNSLF LEYSKNPLRE
660 670 680 690 700
FLHKGLHVSL STDDPMQFHY TKEALMEEYA IAAQVWKLST CDLCEIARNS
710 720 730 740 750
VLQSGLSHQE KQKFLGQNYY KEGPEGNDIR KTNVAQIRMA FRYETLCNEL
760
SFLSDAMKSE EITALTN
Isoform 1A (identifier: Q01432-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MALSSEPAEM
208-767: Missing.
Isoform 1C (identifier: Q01432-3) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MEPGSAEM
652-767: Missing.
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_033499 | 185 | R → W. Corresponds to variant dbSNP:rs11042836Ensembl. | 1 | |
| Natural variantiVAR_042606 | 310 | N → K in AMPDDE. 1 Publication | 1 | |
| Natural variantiVAR_042607 | 311 | V → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs117706710Ensembl. | 1 | |
| Natural variantiVAR_042608 | 320 | A → V in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs147542803Ensembl. | 1 | |
| Natural variantiVAR_042609 | 324 | M → T in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs750004231Ensembl. | 1 | |
| Natural variantiVAR_042610 | 331 | R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs758038726Ensembl. | 1 | |
| Natural variantiVAR_042611 | 402 | R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs766280048Ensembl. | 1 | |
| Natural variantiVAR_042612 | 450 | W → R in AMPDDE. 2 Publications | 1 | |
| Natural variantiVAR_042613 | 455 | Y → H. Corresponds to variant dbSNP:rs36003153Ensembl. | 1 | |
| Natural variantiVAR_009881 | 573 | R → C in AMPDDE; enzyme inactive. 1 PublicationCorresponds to variant dbSNP:rs3741040Ensembl. | 1 | |
| Natural variantiVAR_042614 | 585 | P → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs748852415Ensembl. | 1 | |
| Natural variantiVAR_042615 | 712 | Q → P in AMPDDE. 1 Publication | 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Alternative sequenceiVSP_044230 | 1 – 159 | Missing in isoform 4. 1 PublicationAdd BLAST | 159 | |
| Alternative sequenceiVSP_001275 | 1 | M → MALSSEPAEM in isoform 1A and isoform 2. 3 Publications | 1 | |
| Alternative sequenceiVSP_001276 | 1 | M → MEPGSAEM in isoform 1C and isoform 3. 2 Publications | 1 | |
| Alternative sequenceiVSP_001277 | 208 – 767 | Missing in isoform 1A. 1 PublicationAdd BLAST | 560 | |
| Alternative sequenceiVSP_001278 | 652 – 767 | Missing in isoform 1C. 1 PublicationAdd BLAST | 116 |
Sequence databases
Genome annotation databases
| Ensembli | ENST00000396553; ENSP00000379801; ENSG00000133805. [Q01432-1] ENST00000396554; ENSP00000379802; ENSG00000133805. [Q01432-4] ENST00000444303; ENSP00000396000; ENSG00000133805. [Q01432-6] ENST00000528723; ENSP00000436987; ENSG00000133805. [Q01432-5] ENST00000529507; ENSP00000431648; ENSG00000133805. [Q01432-1] |
| GeneIDi | 272. |
| KEGGi | hsa:272. |
| UCSCi | uc001min.2. human. [Q01432-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:| 100% | UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry. |
| 90% | UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence). |
| 50% | UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster. |
Entry informationi
| Entry namei | AMPD3_HUMAN | |
| Accessioni | Q01432Primary (citable) accession number: Q01432 Secondary accession number(s): A0AUX0 B7Z877 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
| Last sequence update: | July 1, 1993 | |
| Last modified: | July 5, 2017 | |
| This is version 164 of the entry and version 1 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families
