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Entry version 191 (07 Oct 2020)
Sequence version 2 (01 Dec 2000)
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Protein

AMP deaminase 2

Gene

AMPD2

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. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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%5Fsection">'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 (AMPD2), AMP deaminase, AMP deaminase 1 (AMPD1), AMP deaminase 3 (AMPD3), AMP deaminase (AMPD3), AMP deaminase (AMPD2), AMP deaminase 2 (AMPD2), AMP deaminase, AMP deaminase (AMPD2), AMP deaminase
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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi418Zinc; catalyticBy similarity1
Metal bindingi420Zinc; catalyticBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei420SubstrateBy similarity1
Metal bindingi687Zinc; catalyticBy similarity1
Binding sitei690SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei709Proton acceptorPROSITE-ProRule annotation1
Metal bindingi764Zinc; 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

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS04008-MONOMER

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q01433

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-74217, Purine salvage

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q01433

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

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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%5Fand%5Ftaxonomy%5Fsection">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 2 (EC:3.5.4.6)
Alternative name(s):
AMP deaminase isoform L
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:AMPD2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000116337.15

Human Gene Nomenclature Database

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HGNCi
HGNC:469, AMPD2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
102771, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q01433

<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

Pontocerebellar hypoplasia 9 (PCH9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.
Related information in OMIM
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_071158674R → H in PCH9. 1 PublicationCorresponds to variant dbSNP:rs587777395Ensembl.1
Natural variantiVAR_071193778E → D in PCH9. 1 PublicationCorresponds to variant dbSNP:rs587777392Ensembl.1
Natural variantiVAR_071159793D → Y in PCH9. 1 PublicationCorresponds to variant dbSNP:rs587777394Ensembl.1
Spastic paraplegia 63, autosomal recessive (SPG63)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi6Q → R: Abolishes methylation by N6AMT1. 1 Publication1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
271

MalaCards human disease database

More...
MalaCardsi
AMPD2
MIMi615686, phenotype
615809, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000116337

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

More...
Orphaneti
401805, Autosomal recessive spastic paraplegia type 63
369920, Pontocerebellar hypoplasia type 9

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24777

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q01433, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2997

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AMPD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
12644375

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001944071 – 879AMP deaminase 2Add BLAST879

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 residuei6N5-methylglutamine1 Publication1
Modified residuei76PhosphoserineCombined sources1
Modified residuei99Omega-N-methylarginineBy similarity1
Modified residuei100PhosphoserineCombined sources1
Modified residuei118PhosphoserineCombined sources1
Modified residuei134PhosphoserineCombined sources1
Modified residuei145PhosphotyrosineBy similarity1
Modified residuei151PhosphoserineCombined sources1
Modified residuei168PhosphoserineCombined sources1
Modified residuei188PhosphothreonineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei192PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Methylated at Gln-6 by N6AMT1.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q01433

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q01433

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q01433

MaxQB - The MaxQuant DataBase

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MaxQBi
Q01433

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

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PaxDbi
Q01433

PeptideAtlas

More...
PeptideAtlasi
Q01433

PRoteomics IDEntifications database

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PRIDEi
Q01433

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
22402
57950 [Q01433-1]
57951 [Q01433-2]
57952 [Q01433-3]
57953 [Q01433-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q01433, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q01433

MetOSite database of methionine sulfoxide sites

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MetOSitei
Q01433

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

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PhosphoSitePlusi
Q01433

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in cerebellum.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000116337, Expressed in adenohypophysis and 113 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q01433, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q01433, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000116337, Tissue enhanced (bone)

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
106768, 42 interactors

Protein interaction database and analysis system

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IntActi
Q01433, 22 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000256578

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q01433

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q01433, protein

<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

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

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SMRi
Q01433

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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>Regioni489 – 494Substrate bindingBy similarity6
Regioni765 – 768Substrate 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

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eggNOGi
KOG1096, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00950000183011

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_003782_4_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q01433

KEGG Orthology (KO)

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KOi
K01490

Identification of Orthologs from Complete Genome Data

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OMAi
QHVEWRI

Database for complete collections of gene phylogenies

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PhylomeDBi
Q01433

TreeFam database of animal gene trees

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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
IPR029749, AMPD2
IPR032466, Metal_Hydrolase

The PANTHER Classification System

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PANTHERi
PTHR11359, PTHR11359, 1 hit
PTHR11359:SF3, PTHR11359:SF3, 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

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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

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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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform Ex1B-2-3 (identifier: Q01433-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MRNRGQGLFR LRSRCFLHQS LPLGAGRRKG LDVAEPGPSR CRSDSPAVAA
60 70 80 90 100
VVPAMASYPS GSGKPKAKYP FKKRASLQAS TAAPEARGGL GAPPLQSARS
110 120 130 140 150
LPGPAPCLKH FPLDLRTSMD GKCKEIAEEL FTRSLAESEL RSAPYEFPEE
160 170 180 190 200
SPIEQLEERR QRLERQISQD VKLEPDILLR AKQDFLKTDS DSDLQLYKEQ
210 220 230 240 250
GEGQGDRSLR ERDVLEREFQ RVTISGEEKC GVPFTDLLDA AKSVVRALFI
260 270 280 290 300
REKYMALSLQ SFCPTTRRYL QQLAEKPLET RTYEQGPDTP VSADAPVHPP
310 320 330 340 350
ALEQHPYEHC EPSTMPGDLG LGLRMVRGVV HVYTRREPDE HCSEVELPYP
360 370 380 390 400
DLQEFVADVN VLMALIINGP IKSFCYRRLQ YLSSKFQMHV LLNEMKELAA
410 420 430 440 450
QKKVPHRDFY NIRKVDTHIH ASSCMNQKHL LRFIKRAMKR HLEEIVHVEQ
460 470 480 490 500
GREQTLREVF ESMNLTAYDL SVDTLDVHAD RNTFHRFDKF NAKYNPIGES
510 520 530 540 550
VLREIFIKTD NRVSGKYFAH IIKEVMSDLE ESKYQNAELR LSIYGRSRDE
560 570 580 590 600
WDKLARWAVM HRVHSPNVRW LVQVPRLFDV YRTKGQLANF QEMLENIFLP
610 620 630 640 650
LFEATVHPAS HPELHLFLEH VDGFDSVDDE SKPENHVFNL ESPLPEAWVE
660 670 680 690 700
EDNPPYAYYL YYTFANMAML NHLRRQRGFH TFVLRPHCGE AGPIHHLVSA
710 720 730 740 750
FMLAENISHG LLLRKAPVLQ YLYYLAQIGI AMSPLSNNSL FLSYHRNPLP
760 770 780 790 800
EYLSRGLMVS LSTDDPLQFH FTKEPLMEEY SIATQVWKLS SCDMCELARN
810 820 830 840 850
SVLMSGFSHK VKSHWLGPNY TKEGPEGNDI RRTNVPDIRV GYRYETLCQE
860 870
LALITQAVQS EMLETIPEEA GITMSPGPQ
Length:879
Mass (Da):100,688
Last modified:December 1, 2000 - v2
<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:i5BD9BBF5AA41BE8F
GO
Isoform Ex1A-2-3 (identifier: Q01433-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.
     82-84: AAP → MAS

Show »
Length:798
Mass (Da):92,071
Checksum:iA31876E9F8CC93EB
GO
Isoform Ex1A-3 (identifier: Q01433-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: MRNRGQGLFR...MDGKCKEIAE → MLTFLPSPQ

Show »
Length:760
Mass (Da):88,198
Checksum:iAF0EF5DDE5DEBEE3
GO
Isoform Ex1B-3 (identifier: Q01433-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: MRNRGQGLFR...MDGKCKEIAE → MWQSQAPAGA...PACRPPLQLQ

Show »
Length:804
Mass (Da):92,918
Checksum:i753154327F2740E4
GO
Isoform 5 (identifier: Q01433-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.

Show »
Length:761
Mass (Da):88,288
Checksum:iA3BD94E9D6226281
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y360H0Y360_HUMAN
AMP deaminase
AMPD2
836Annotation score:

Annotation score:3 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>
A0A5F9UK94A0A5F9UK94_HUMAN
AMP deaminase
AMPD2
825Annotation 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>
H0YF16H0YF16_HUMAN
AMP deaminase
AMPD2
231Annotation 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>
E9PIJ1E9PIJ1_HUMAN
AMP deaminase 2
AMPD2
87Annotation 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>
A0A590UJY6A0A590UJY6_HUMAN
AMP deaminase 2
AMPD2
660Annotation 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>
A0A590UK85A0A590UK85_HUMAN
AMP deaminase 2
AMPD2
564Annotation 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>
A0A590UJX5A0A590UJX5_HUMAN
AMP deaminase 2
AMPD2
183Annotation 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>
E9PJF6E9PJF6_HUMAN
AMP deaminase 2
AMPD2
103Annotation 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>
A0A590UK60A0A590UK60_HUMAN
AMP deaminase 2
AMPD2
38Annotation 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>
H0YE32H0YE32_HUMAN
AMP deaminase 2
AMPD2
40Annotation 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>
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti207R → G in AAA11725 (PubMed:1429593).Curated1
Sequence conflicti811V → I in BAG59062 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069105522I → V1 PublicationCorresponds to variant dbSNP:rs201254826Ensembl.1
Natural variantiVAR_071158674R → H in PCH9. 1 PublicationCorresponds to variant dbSNP:rs587777395Ensembl.1
Natural variantiVAR_071193778E → D in PCH9. 1 PublicationCorresponds to variant dbSNP:rs587777392Ensembl.1
Natural variantiVAR_071159793D → Y in PCH9. 1 PublicationCorresponds to variant dbSNP:rs587777394Ensembl.1

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_0012741 – 128MRNRG…KEIAE → MLTFLPSPQ in isoform Ex1A-3. CuratedAdd BLAST128
Alternative sequenceiVSP_0012731 – 128MRNRG…KEIAE → MWQSQAPAGAAQTPPLSPPW SQPWHPIHLALASPRPNIPL RSGPACRPPLQLQ in isoform Ex1B-3. 1 PublicationAdd BLAST128
Alternative sequenceiVSP_0459751 – 118Missing in isoform 5. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0012711 – 81Missing in isoform Ex1A-2-3. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_00127282 – 84AAP → MAS in isoform Ex1A-2-3. 1 Publication3

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
M91029 mRNA Translation: AAA62127.1
M91029 mRNA Translation: AAA62126.1
S47833 mRNA Translation: AAA11725.1
U16267 mRNA Translation: AAC50306.1
U16268 mRNA Translation: AAC50307.1
U16269 Genomic RNA Translation: AAB06511.1
U16270 mRNA Translation: AAC50308.1
U16272, U16271 Genomic DNA Translation: AAD56302.1
U16272, U16271 Genomic DNA Translation: AAC50309.2
U16272, U16271 Genomic DNA Translation: AAD56303.1
AK296394 mRNA Translation: BAG59062.1
AK302939 mRNA Translation: BAG64097.1
AL355310 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56396.1
CH471122 Genomic DNA Translation: EAW56399.1
CH471122 Genomic DNA Translation: EAW56401.1
BC007711 mRNA Translation: AAH07711.1
BC075844 mRNA Translation: AAH75844.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS58016.1 [Q01433-5]
CCDS76186.1 [Q01433-4]
CCDS804.1 [Q01433-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
A44313
S59994
S59995
S59998
S59999
S60000

NCBI Reference Sequences

More...
RefSeqi
NP_001244289.1, NM_001257360.1
NP_001244290.1, NM_001257361.1 [Q01433-5]
NP_001295099.1, NM_001308170.1 [Q01433-4]
NP_004028.3, NM_004037.7
NP_631895.1, NM_139156.3 [Q01433-2]
NP_981949.1, NM_203404.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342115; ENSP00000345498; ENSG00000116337 [Q01433-2]
ENST00000358729; ENSP00000351573; ENSG00000116337 [Q01433-4]
ENST00000528454; ENSP00000437164; ENSG00000116337 [Q01433-5]
ENST00000667949; ENSP00000499465; ENSG00000116337 [Q01433-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
271

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:271

UCSC genome browser

More...
UCSCi
uc001dyb.3, human [Q01433-1]

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
M91029 mRNA Translation: AAA62127.1
M91029 mRNA Translation: AAA62126.1
S47833 mRNA Translation: AAA11725.1
U16267 mRNA Translation: AAC50306.1
U16268 mRNA Translation: AAC50307.1
U16269 Genomic RNA Translation: AAB06511.1
U16270 mRNA Translation: AAC50308.1
U16272, U16271 Genomic DNA Translation: AAD56302.1
U16272, U16271 Genomic DNA Translation: AAC50309.2
U16272, U16271 Genomic DNA Translation: AAD56303.1
AK296394 mRNA Translation: BAG59062.1
AK302939 mRNA Translation: BAG64097.1
AL355310 Genomic DNA No translation available.
CH471122 Genomic DNA Translation: EAW56396.1
CH471122 Genomic DNA Translation: EAW56399.1
CH471122 Genomic DNA Translation: EAW56401.1
BC007711 mRNA Translation: AAH07711.1
BC075844 mRNA Translation: AAH75844.1
CCDSiCCDS58016.1 [Q01433-5]
CCDS76186.1 [Q01433-4]
CCDS804.1 [Q01433-2]
PIRiA44313
S59994
S59995
S59998
S59999
S60000
RefSeqiNP_001244289.1, NM_001257360.1
NP_001244290.1, NM_001257361.1 [Q01433-5]
NP_001295099.1, NM_001308170.1 [Q01433-4]
NP_004028.3, NM_004037.7
NP_631895.1, NM_139156.3 [Q01433-2]
NP_981949.1, NM_203404.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NO3X-ray1.70C165-173[»]
4NO5X-ray2.10C165-173[»]
SMRiQ01433
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106768, 42 interactors
IntActiQ01433, 22 interactors
STRINGi9606.ENSP00000256578

Chemistry databases

BindingDBiQ01433
ChEMBLiCHEMBL2997

PTM databases

GlyGeniQ01433, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ01433
MetOSiteiQ01433
PhosphoSitePlusiQ01433

Polymorphism and mutation databases

BioMutaiAMPD2
DMDMi12644375

Proteomic databases

EPDiQ01433
jPOSTiQ01433
MassIVEiQ01433
MaxQBiQ01433
PaxDbiQ01433
PeptideAtlasiQ01433
PRIDEiQ01433
ProteomicsDBi22402
57950 [Q01433-1]
57951 [Q01433-2]
57952 [Q01433-3]
57953 [Q01433-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
33766, 207 antibodies

Genome annotation databases

EnsembliENST00000342115; ENSP00000345498; ENSG00000116337 [Q01433-2]
ENST00000358729; ENSP00000351573; ENSG00000116337 [Q01433-4]
ENST00000528454; ENSP00000437164; ENSG00000116337 [Q01433-5]
ENST00000667949; ENSP00000499465; ENSG00000116337 [Q01433-1]
GeneIDi271
KEGGihsa:271
UCSCiuc001dyb.3, human [Q01433-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
271
DisGeNETi271
EuPathDBiHostDB:ENSG00000116337.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AMPD2
HGNCiHGNC:469, AMPD2
HPAiENSG00000116337, Tissue enhanced (bone)
MalaCardsiAMPD2
MIMi102771, gene
615686, phenotype
615809, phenotype
neXtProtiNX_Q01433
OpenTargetsiENSG00000116337
Orphaneti401805, Autosomal recessive spastic paraplegia type 63
369920, Pontocerebellar hypoplasia type 9
PharmGKBiPA24777

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1096, Eukaryota
GeneTreeiENSGT00950000183011
HOGENOMiCLU_003782_4_0_1
InParanoidiQ01433
KOiK01490
OMAiQHVEWRI
PhylomeDBiQ01433
TreeFamiTF300439

Enzyme and pathway databases

UniPathwayiUPA00591;UER00663
BioCyciMetaCyc:HS04008-MONOMER
PathwayCommonsiQ01433
ReactomeiR-HSA-74217, Purine salvage
SABIO-RKiQ01433

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
271, 7 hits in 872 CRISPR screens

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

More...
ChiTaRSi
AMPD2, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
AMPD2

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

More...
GenomeRNAii
271
PharosiQ01433, Tchem

Protein Ontology

More...
PROi
PR:Q01433
RNActiQ01433, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116337, Expressed in adenohypophysis and 113 other tissues
ExpressionAtlasiQ01433, baseline and differential
GenevisibleiQ01433, 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
IPR029749, AMPD2
IPR032466, Metal_Hydrolase
PANTHERiPTHR11359, PTHR11359, 1 hit
PTHR11359:SF3, PTHR11359:SF3, 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...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiAMPD2_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: Q01433
Secondary accession number(s): B4DK50
, B4DZI5, E9PNG0, Q14856, Q14857, Q16686, Q16687, Q16688, Q16729, Q5T693, Q5T695, Q96IA1, Q9UDX8, Q9UDX9, Q9UMU4
<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%5Fand%5Fisoforms">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: December 1, 2000
Last modified: October 7, 2020
This is version 191 of the entry and version 2 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

3D-structure, Reference proteome

Documents

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