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Protein

AMP deaminase 3

Gene

AMPD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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:
  1. AMP deaminase 1 (AMPD1), AMP deaminase 3 (AMPD3), AMP deaminase 2 (AMPD2)
This subpathway is part of the pathway IMP biosynthesis via salvage pathway, which is itself part of Purine metabolism.
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 keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi317Zinc; catalyticBy similarity1
Metal bindingi319Zinc; catalyticBy similarity1
Binding sitei319SubstrateBy similarity1
Metal bindingi586Zinc; catalyticBy similarity1
Binding sitei589SubstrateBy similarity1
Active sitei608Proton acceptorPROSITE-ProRule annotation1
Metal bindingi663Zinc; catalyticBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Nucleotide metabolism

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS05789-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-74217. Purine salvage.
SABIO-RKQ01432.
UniPathwayiUPA00591; 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:470. AMPD3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042606310N → K in AMPDDE. 1 Publication1
Natural variantiVAR_042607311V → L in AMPDDE. 1 PublicationCorresponds to variant rs117706710dbSNPEnsembl.1
Natural variantiVAR_042608320A → V in AMPDDE. 1 PublicationCorresponds to variant rs147542803dbSNPEnsembl.1
Natural variantiVAR_042609324M → T in AMPDDE. 1 PublicationCorresponds to variant rs750004231dbSNPEnsembl.1
Natural variantiVAR_042610331R → C in AMPDDE. 1 PublicationCorresponds to variant rs758038726dbSNPEnsembl.1
Natural variantiVAR_042611402R → C in AMPDDE. 1 PublicationCorresponds to variant rs766280048dbSNPEnsembl.1
Natural variantiVAR_042612450W → R in AMPDDE. 2 Publications1
Natural variantiVAR_009881573R → C in AMPDDE; enzyme inactive. 1 PublicationCorresponds to variant rs3741040dbSNPEnsembl.1
Natural variantiVAR_042614585P → L in AMPDDE. 1 PublicationCorresponds to variant rs748852415dbSNPEnsembl.1
Natural variantiVAR_042615712Q → P in AMPDDE. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi272.
MalaCardsiAMPD3.
MIMi612874. phenotype.
OpenTargetsiENSG00000133805.
Orphaneti45. Adenosine monophosphate deaminase deficiency.
PharmGKBiPA24778.

Chemistry databases

ChEMBLiCHEMBL2912.

Polymorphism and mutation databases

BioMutaiAMPD3.
DMDMi399033.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001944101 – 767AMP deaminase 3Add BLAST767

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei85PhosphoserineCombined sources1
Modified residuei107PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ01432.
MaxQBiQ01432.
PaxDbiQ01432.
PeptideAtlasiQ01432.
PRIDEiQ01432.

PTM databases

iPTMnetiQ01432.
PhosphoSitePlusiQ01432.

Expressioni

Gene expression databases

BgeeiENSG00000133805.
CleanExiHS_AMPD3.
ExpressionAtlasiQ01432. baseline and differential.
GenevisibleiQ01432. HS.

Organism-specific databases

HPAiHPA038662.
HPA047408.

Interactioni

Subunit structurei

Homotetramer.

Protein-protein interaction databases

BioGridi106769. 2 interactors.
IntActiQ01432. 3 interactors.
STRINGi9606.ENSP00000379802.

Chemistry databases

BindingDBiQ01432.

Structurei

3D structure databases

ProteinModelPortaliQ01432.
SMRiQ01432.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni388 – 393Substrate bindingBy similarity6
Regioni664 – 667Substrate bindingBy similarity4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1096. Eukaryota.
COG1816. LUCA.
GeneTreeiENSGT00390000008190.
HOGENOMiHOG000092200.
HOVERGENiHBG050494.
InParanoidiQ01432.
KOiK01490.
OMAiMMELNEP.
OrthoDBiEOG091G01OU.
PhylomeDBiQ01432.
TreeFamiTF300439.

Family and domain databases

CDDicd01319. AMPD. 1 hit.
InterProiIPR006650. A/AMP_deam_AS.
IPR001365. A/AMP_deaminase_dom.
IPR006329. AMPD.
IPR029771. AMPD3.
IPR032466. Metal_Hydrolase.
[Graphical view]
PANTHERiPTHR11359. PTHR11359. 1 hit.
PTHR11359:SF2. PTHR11359:SF2. 1 hit.
PfamiPF00962. A_deaminase. 1 hit.
[Graphical view]
PIRSFiPIRSF001251. AMP_deaminase_met. 1 hit.
SUPFAMiSSF51556. SSF51556. 1 hit.
TIGRFAMsiTIGR01429. AMP_deaminase. 1 hit.
PROSITEiPS00485. A_DEAMINASE. 1 hit.
[Graphical view]

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.

« Hide

        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
Length:767
Mass (Da):88,812
Last modified:July 1, 1993 - v1
Checksum:i2E0A2C629003B98C
GO
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.

Show »
Length:216
Mass (Da):24,119
Checksum:i77821100D9737811
GO
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.

Show »
Length:658
Mass (Da):76,269
Checksum:i0FDFC779DC4996F2
GO
Isoform 2 (identifier: Q01432-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MALSSEPAEM

Show »
Length:776
Mass (Da):89,728
Checksum:i53FFE0714FC9BC45
GO
Isoform 3 (identifier: Q01432-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEPGSAEM

Show »
Length:774
Mass (Da):89,514
Checksum:i208BFD79F9053BA2
GO
Isoform 4 (identifier: Q01432-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-159: Missing.

Show »
Length:608
Mass (Da):71,222
Checksum:i04814500471AE377
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033499185R → W.Corresponds to variant rs11042836dbSNPEnsembl.1
Natural variantiVAR_042606310N → K in AMPDDE. 1 Publication1
Natural variantiVAR_042607311V → L in AMPDDE. 1 PublicationCorresponds to variant rs117706710dbSNPEnsembl.1
Natural variantiVAR_042608320A → V in AMPDDE. 1 PublicationCorresponds to variant rs147542803dbSNPEnsembl.1
Natural variantiVAR_042609324M → T in AMPDDE. 1 PublicationCorresponds to variant rs750004231dbSNPEnsembl.1
Natural variantiVAR_042610331R → C in AMPDDE. 1 PublicationCorresponds to variant rs758038726dbSNPEnsembl.1
Natural variantiVAR_042611402R → C in AMPDDE. 1 PublicationCorresponds to variant rs766280048dbSNPEnsembl.1
Natural variantiVAR_042612450W → R in AMPDDE. 2 Publications1
Natural variantiVAR_042613455Y → H.Corresponds to variant rs36003153dbSNPEnsembl.1
Natural variantiVAR_009881573R → C in AMPDDE; enzyme inactive. 1 PublicationCorresponds to variant rs3741040dbSNPEnsembl.1
Natural variantiVAR_042614585P → L in AMPDDE. 1 PublicationCorresponds to variant rs748852415dbSNPEnsembl.1
Natural variantiVAR_042615712Q → P in AMPDDE. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442301 – 159Missing in isoform 4. 1 PublicationAdd BLAST159
Alternative sequenceiVSP_0012751M → MALSSEPAEM in isoform 1A and isoform 2. 3 Publications1
Alternative sequenceiVSP_0012761M → MEPGSAEM in isoform 1C and isoform 3. 2 Publications1
Alternative sequenceiVSP_001277208 – 767Missing in isoform 1A. 1 PublicationAdd BLAST560
Alternative sequenceiVSP_001278652 – 767Missing in isoform 1C. 1 PublicationAdd BLAST116

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D12775 mRNA. Translation: BAA02240.1.
M84720 mRNA. Translation: AAA58365.1.
M84721 mRNA. Translation: AAA58366.1.
M84722 mRNA. Translation: AAA58367.1.
U29926
, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60410.1.
U29926
, U29912, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60408.1.
U29926
, U29927, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60409.1.
D31646 Genomic DNA. Translation: BAA06505.1.
AK289998 mRNA. Translation: BAF82687.1.
AK295046 mRNA. Translation: BAH11958.1.
AK301507 mRNA. Translation: BAH13499.1.
AK302970 mRNA. Translation: BAH13863.1.
AC084117 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68567.1.
CH471064 Genomic DNA. Translation: EAW68568.1.
CH471064 Genomic DNA. Translation: EAW68569.1.
BC126118 mRNA. Translation: AAI26119.1.
CCDSiCCDS41617.1. [Q01432-1]
CCDS44537.1. [Q01432-5]
CCDS53601.1. [Q01432-6]
CCDS7802.1. [Q01432-4]
PIRiS68146.
S68147.
RefSeqiNP_000471.1. NM_000480.2. [Q01432-4]
NP_001020560.1. NM_001025389.1. [Q01432-1]
NP_001020561.1. NM_001025390.1. [Q01432-5]
NP_001165901.1. NM_001172430.1. [Q01432-1]
NP_001165902.1. NM_001172431.1. [Q01432-6]
UniGeneiHs.501890.

Genome annotation databases

EnsembliENST00000396553; ENSP00000379801; ENSG00000133805. [Q01432-1]
ENST00000396554; ENSP00000379802; ENSG00000133805. [Q01432-4]
ENST00000444303; ENSP00000396000; ENSG00000133805. [Q01432-6]
ENST00000528723; ENSP00000436987; ENSG00000133805. [Q01432-5]
ENST00000529507; ENSP00000431648; ENSG00000133805. [Q01432-1]
GeneIDi272.
KEGGihsa:272.
UCSCiuc001min.2. human. [Q01432-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D12775 mRNA. Translation: BAA02240.1.
M84720 mRNA. Translation: AAA58365.1.
M84721 mRNA. Translation: AAA58366.1.
M84722 mRNA. Translation: AAA58367.1.
U29926
, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60410.1.
U29926
, U29912, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60408.1.
U29926
, U29927, U29929, U29907, U29909, U29910, U29911, U29916, U29917, U29918, U29922, U29924, U29925 Genomic DNA. Translation: AAB60409.1.
D31646 Genomic DNA. Translation: BAA06505.1.
AK289998 mRNA. Translation: BAF82687.1.
AK295046 mRNA. Translation: BAH11958.1.
AK301507 mRNA. Translation: BAH13499.1.
AK302970 mRNA. Translation: BAH13863.1.
AC084117 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68567.1.
CH471064 Genomic DNA. Translation: EAW68568.1.
CH471064 Genomic DNA. Translation: EAW68569.1.
BC126118 mRNA. Translation: AAI26119.1.
CCDSiCCDS41617.1. [Q01432-1]
CCDS44537.1. [Q01432-5]
CCDS53601.1. [Q01432-6]
CCDS7802.1. [Q01432-4]
PIRiS68146.
S68147.
RefSeqiNP_000471.1. NM_000480.2. [Q01432-4]
NP_001020560.1. NM_001025389.1. [Q01432-1]
NP_001020561.1. NM_001025390.1. [Q01432-5]
NP_001165901.1. NM_001172430.1. [Q01432-1]
NP_001165902.1. NM_001172431.1. [Q01432-6]
UniGeneiHs.501890.

3D structure databases

ProteinModelPortaliQ01432.
SMRiQ01432.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106769. 2 interactors.
IntActiQ01432. 3 interactors.
STRINGi9606.ENSP00000379802.

Chemistry databases

BindingDBiQ01432.
ChEMBLiCHEMBL2912.

PTM databases

iPTMnetiQ01432.
PhosphoSitePlusiQ01432.

Polymorphism and mutation databases

BioMutaiAMPD3.
DMDMi399033.

Proteomic databases

EPDiQ01432.
MaxQBiQ01432.
PaxDbiQ01432.
PeptideAtlasiQ01432.
PRIDEiQ01432.

Protocols and materials databases

DNASUi272.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396553; ENSP00000379801; ENSG00000133805. [Q01432-1]
ENST00000396554; ENSP00000379802; ENSG00000133805. [Q01432-4]
ENST00000444303; ENSP00000396000; ENSG00000133805. [Q01432-6]
ENST00000528723; ENSP00000436987; ENSG00000133805. [Q01432-5]
ENST00000529507; ENSP00000431648; ENSG00000133805. [Q01432-1]
GeneIDi272.
KEGGihsa:272.
UCSCiuc001min.2. human. [Q01432-1]

Organism-specific databases

CTDi272.
DisGeNETi272.
GeneCardsiAMPD3.
HGNCiHGNC:470. AMPD3.
HPAiHPA038662.
HPA047408.
MalaCardsiAMPD3.
MIMi102772. gene.
612874. phenotype.
neXtProtiNX_Q01432.
OpenTargetsiENSG00000133805.
Orphaneti45. Adenosine monophosphate deaminase deficiency.
PharmGKBiPA24778.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1096. Eukaryota.
COG1816. LUCA.
GeneTreeiENSGT00390000008190.
HOGENOMiHOG000092200.
HOVERGENiHBG050494.
InParanoidiQ01432.
KOiK01490.
OMAiMMELNEP.
OrthoDBiEOG091G01OU.
PhylomeDBiQ01432.
TreeFamiTF300439.

Enzyme and pathway databases

UniPathwayiUPA00591; UER00663.
BioCyciZFISH:HS05789-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-74217. Purine salvage.
SABIO-RKQ01432.

Miscellaneous databases

ChiTaRSiAMPD3. human.
GeneWikiiAMPD3.
GenomeRNAii272.
PROiQ01432.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133805.
CleanExiHS_AMPD3.
ExpressionAtlasiQ01432. baseline and differential.
GenevisibleiQ01432. HS.

Family and domain databases

CDDicd01319. AMPD. 1 hit.
InterProiIPR006650. A/AMP_deam_AS.
IPR001365. A/AMP_deaminase_dom.
IPR006329. AMPD.
IPR029771. AMPD3.
IPR032466. Metal_Hydrolase.
[Graphical view]
PANTHERiPTHR11359. PTHR11359. 1 hit.
PTHR11359:SF2. PTHR11359:SF2. 1 hit.
PfamiPF00962. A_deaminase. 1 hit.
[Graphical view]
PIRSFiPIRSF001251. AMP_deaminase_met. 1 hit.
SUPFAMiSSF51556. SSF51556. 1 hit.
TIGRFAMsiTIGR01429. AMP_deaminase. 1 hit.
PROSITEiPS00485. A_DEAMINASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAMPD3_HUMAN
AccessioniPrimary (citable) accession number: Q01432
Secondary accession number(s): A0AUX0
, B7Z2S2, B7Z763, B7Z877
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: November 30, 2016
This is version 160 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar 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.