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Entry version 177 (13 Feb 2019)
Sequence version 1 (01 Jul 1993)
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Protein

AMP deaminase 3

Gene

AMPD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

AMP deaminase plays a critical role in energy metabolism.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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 2 (AMPD2), AMP deaminase 1 (AMPD1), AMP deaminase 3 (AMPD3)
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
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi317Zinc; catalyticBy similarity1
Metal bindingi319Zinc; catalyticBy similarity1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei319SubstrateBy similarity1
Metal bindingi586Zinc; catalyticBy similarity1
Binding sitei589SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei608Proton acceptorPROSITE-ProRule annotation1
Metal bindingi663Zinc; catalyticBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processNucleotide metabolism
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q01432

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00591;UER00663

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
AMP deaminase 3 (EC:3.5.4.6)
Alternative name(s):
AMP deaminase isoform E
Erythrocyte AMP deaminase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMPD3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000133805.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:470 AMPD3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
102772 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q01432

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_042606310N → K in AMPDDE. 1 Publication1
Natural variantiVAR_042607311V → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs117706710Ensembl.1
Natural variantiVAR_042608320A → V in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs147542803Ensembl.1
Natural variantiVAR_042609324M → T in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs750004231Ensembl.1
Natural variantiVAR_042610331R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs758038726Ensembl.1
Natural variantiVAR_042611402R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs766280048Ensembl.1
Natural variantiVAR_042612450W → R in AMPDDE. 2 PublicationsCorresponds to variant dbSNP:rs1273151844Ensembl.1
Natural variantiVAR_009881573R → C in AMPDDE; enzyme inactive. 1 PublicationCorresponds to variant dbSNP:rs3741040EnsemblClinVar.1
Natural variantiVAR_042614585P → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs748852415Ensembl.1
Natural variantiVAR_042615712Q → P in AMPDDE. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
272

MalaCards human disease database

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MalaCardsi
AMPD3
MIMi612874 phenotype

Open Targets

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OpenTargetsi
ENSG00000133805

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
45 Adenosine monophosphate deaminase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24778

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2912

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMPD3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
399033

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001944101 – 767AMP deaminase 3Add BLAST767

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei85PhosphoserineCombined sources1
Modified residuei107PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q01432

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q01432

MaxQB - The MaxQuant DataBase

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MaxQBi
Q01432

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q01432

PeptideAtlas

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PeptideAtlasi
Q01432

PRoteomics IDEntifications database

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PRIDEi
Q01432

ProteomicsDB human proteome resource

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ProteomicsDBi
57945
57946 [Q01432-2]
57947 [Q01432-3]
57948 [Q01432-4]
57949 [Q01432-5]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q01432

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q01432

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q01432

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000133805 Expressed in 219 organ(s), highest expression level in gluteal muscle

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q01432 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q01432 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA038662
HPA047408

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
HSP90AB1P082382EBI-1223554,EBI-352572

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106769, 5 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q01432

Protein interaction database and analysis system

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IntActi
Q01432, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000379802

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q01432

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q01432

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q01432

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni388 – 393Substrate bindingBy similarity6
Regioni664 – 667Substrate bindingBy similarity4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1096 Eukaryota
COG1816 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153699

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000092200

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050494

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q01432

KEGG Orthology (KO)

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KOi
K01490

Identification of Orthologs from Complete Genome Data

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OMAi
PSPDVWT

Database of Orthologous Groups

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OrthoDBi
49756at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q01432

TreeFam database of animal gene trees

More...
TreeFami
TF300439

Family and domain databases

Conserved Domains Database

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CDDi
cd01319 AMPD, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006650 A/AMP_deam_AS
IPR001365 A/AMP_deaminase_dom
IPR006329 AMPD
IPR029771 AMPD3
IPR032466 Metal_Hydrolase

The PANTHER Classification System

More...
PANTHERi
PTHR11359 PTHR11359, 1 hit
PTHR11359:SF2 PTHR11359:SF2, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00962 A_deaminase, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001251 AMP_deaminase_met, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51556 SSF51556, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01429 AMP_deaminase, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00485 A_DEAMINASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKC5E9PKC5_HUMAN
AMP deaminase
AMPD3
677Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLK6E9PLK6_HUMAN
AMP deaminase 3
AMPD3
267Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PIR5E9PIR5_HUMAN
AMP deaminase 3
AMPD3
212Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPG2E9PPG2_HUMAN
AMP deaminase 3
AMPD3
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDC3H0YDC3_HUMAN
AMP deaminase 3
AMPD3
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDY8H0YDY8_HUMAN
AMP deaminase 3
AMPD3
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033499185R → W. Corresponds to variant dbSNP:rs11042836EnsemblClinVar.1
Natural variantiVAR_042606310N → K in AMPDDE. 1 Publication1
Natural variantiVAR_042607311V → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs117706710Ensembl.1
Natural variantiVAR_042608320A → V in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs147542803Ensembl.1
Natural variantiVAR_042609324M → T in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs750004231Ensembl.1
Natural variantiVAR_042610331R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs758038726Ensembl.1
Natural variantiVAR_042611402R → C in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs766280048Ensembl.1
Natural variantiVAR_042612450W → R in AMPDDE. 2 PublicationsCorresponds to variant dbSNP:rs1273151844Ensembl.1
Natural variantiVAR_042613455Y → H. Corresponds to variant dbSNP:rs36003153Ensembl.1
Natural variantiVAR_009881573R → C in AMPDDE; enzyme inactive. 1 PublicationCorresponds to variant dbSNP:rs3741040EnsemblClinVar.1
Natural variantiVAR_042614585P → L in AMPDDE. 1 PublicationCorresponds to variant dbSNP:rs748852415Ensembl.1
Natural variantiVAR_042615712Q → P in AMPDDE. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41617.1 [Q01432-1]
CCDS44537.1 [Q01432-5]
CCDS53601.1 [Q01432-6]
CCDS7802.1 [Q01432-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
S68146
S68147

NCBI Reference Sequences

More...
RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.501890

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
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]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
272

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:272

UCSC genome browser

More...
UCSCi
uc001min.2 human [Q01432-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 5 interactors
ELMiQ01432
IntActiQ01432, 8 interactors
STRINGi9606.ENSP00000379802

Chemistry databases

BindingDBiQ01432
ChEMBLiCHEMBL2912

PTM databases

CarbonylDBiQ01432
iPTMnetiQ01432
PhosphoSitePlusiQ01432

Polymorphism and mutation databases

BioMutaiAMPD3
DMDMi399033

Proteomic databases

EPDiQ01432
jPOSTiQ01432
MaxQBiQ01432
PaxDbiQ01432
PeptideAtlasiQ01432
PRIDEiQ01432
ProteomicsDBi57945
57946 [Q01432-2]
57947 [Q01432-3]
57948 [Q01432-4]
57949 [Q01432-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
272
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

Comparative Toxicogenomics Database

More...
CTDi
272
DisGeNETi272
EuPathDBiHostDB:ENSG00000133805.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AMPD3
HGNCiHGNC:470 AMPD3
HPAiHPA038662
HPA047408
MalaCardsiAMPD3
MIMi102772 gene
612874 phenotype
neXtProtiNX_Q01432
OpenTargetsiENSG00000133805
Orphaneti45 Adenosine monophosphate deaminase deficiency
PharmGKBiPA24778

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1096 Eukaryota
COG1816 LUCA
GeneTreeiENSGT00940000153699
HOGENOMiHOG000092200
HOVERGENiHBG050494
InParanoidiQ01432
KOiK01490
OMAiPSPDVWT
OrthoDBi49756at2759
PhylomeDBiQ01432
TreeFamiTF300439

Enzyme and pathway databases

UniPathwayi
UPA00591;UER00663

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage
SABIO-RKiQ01432

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
AMPD3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
AMPD3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
272

Protein Ontology

More...
PROi
PR:Q01432

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000133805 Expressed in 219 organ(s), highest expression level in gluteal muscle
ExpressionAtlasiQ01432 baseline and differential
GenevisibleiQ01432 HS

Family and domain databases

CDDicd01319 AMPD, 1 hit
InterProiView protein in InterPro
IPR006650 A/AMP_deam_AS
IPR001365 A/AMP_deaminase_dom
IPR006329 AMPD
IPR029771 AMPD3
IPR032466 Metal_Hydrolase
PANTHERiPTHR11359 PTHR11359, 1 hit
PTHR11359:SF2 PTHR11359:SF2, 1 hit
PfamiView protein in Pfam
PF00962 A_deaminase, 1 hit
PIRSFiPIRSF001251 AMP_deaminase_met, 1 hit
SUPFAMiSSF51556 SSF51556, 1 hit
TIGRFAMsiTIGR01429 AMP_deaminase, 1 hit
PROSITEiView protein in PROSITE
PS00485 A_DEAMINASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMPD3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01432
Secondary accession number(s): A0AUX0
, B7Z2S2, B7Z763, B7Z877
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: February 13, 2019
This is version 177 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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