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Protein

Adenine phosphoribosyltransferase

Gene

APRT

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

Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.

<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 <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: AMP biosynthesis via salvage pathway

This protein is involved in step 1 of the subpathway that synthesizes AMP from adenine.
Proteins known to be involved in this subpathway in this organism are:
  1. Adenine phosphoribosyltransferase (APRT)
This subpathway is part of the pathway AMP 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 AMP from adenine, the pathway AMP biosynthesis via salvage pathway and in Purine metabolism.

<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

  • adenine binding Source: GO_Central
  • adenine phosphoribosyltransferase activity Source: GO_Central
  • AMP binding Source: MGI

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 functionGlycosyltransferase, Transferase
Biological processPurine salvage

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
P07741

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

More...
UniPathwayi
UPA00588;UER00646

<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:
Adenine phosphoribosyltransferase (EC:2.4.2.7)
Short name:
APRT
<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:APRT
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198931.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:626 APRT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
102600 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P07741

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<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

Adenine phosphoribosyltransferase deficiency (APRTD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
See also OMIM:614723
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_06904933L → P in APRTD. 1 Publication1
Natural variantiVAR_00674765D → V in APRTD; Icelandic type. 1 PublicationCorresponds to variant dbSNP:rs104894506EnsemblClinVar.1
Natural variantiVAR_06905084V → M in APRTD. 1 PublicationCorresponds to variant dbSNP:rs200392753Ensembl.1
Natural variantiVAR_006748110L → P in APRTD; Newfoundland type. 1 PublicationCorresponds to variant dbSNP:rs104894508EnsemblClinVar.1
Natural variantiVAR_069051133G → D in APRTD. 1 Publication1
Natural variantiVAR_006749136M → T in APRTD; Japanese type; allele APRT*J; most common mutation. 4 PublicationsCorresponds to variant dbSNP:rs28999113EnsemblClinVar.1
Natural variantiVAR_022608150V → F in APRTD. 1 PublicationCorresponds to variant dbSNP:rs281860266EnsemblClinVar.1
Natural variantiVAR_022609153C → R in APRTD. 1 Publication1
Natural variantiVAR_037575173Missing in APRTD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
353

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
APRT

MalaCards human disease database

More...
MalaCardsi
APRT
MIMi614723 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198931

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

More...
Orphaneti
976 Adenine phosphoribosyltransferase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24914

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB03506 9-Deazaadenine
DB00173 Adenine
DB00131 Adenosine monophosphate
DB01632 Alpha-Phosphoribosylpyrophosphoric Acid
DB04272 Citric Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
APRT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
114074

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources2 Publications
<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_00001495042 – 180Adenine phosphoribosyltransferaseAdd BLAST179

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 residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei4PhosphoserineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei30PhosphoserineCombined sources1
Modified residuei60PhosphotyrosineCombined sources1
Modified residuei66PhosphoserineCombined sources1
Modified residuei114N6-acetyllysineCombined sources1
Modified residuei135PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P07741

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P07741

MaxQB - The MaxQuant DataBase

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MaxQBi
P07741

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

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PaxDbi
P07741

PeptideAtlas

More...
PeptideAtlasi
P07741

PRoteomics IDEntifications database

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PRIDEi
P07741

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52026

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
P07741-1 [P07741-1]
P07741-2 [P07741-2]

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

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SWISS-2DPAGEi
P07741

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P07741

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

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PhosphoSitePlusi
P07741

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P07741

<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

More...
Bgeei
ENSG00000198931 Expressed in 222 organ(s), highest expression level in ectocervix

CleanEx database of gene expression profiles

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CleanExi
HS_APRT

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P07741 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P07741 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026681

<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

Homodimer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106849, 38 interactors

Protein interaction database and analysis system

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IntActi
P07741, 7 interactors

Molecular INTeraction database

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MINTi
P07741

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367615

<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

Secondary structure

1180
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OPUmodel-A1-180[»]
1OREX-ray2.10A1-180[»]
1ZN7X-ray1.83A/B1-180[»]
1ZN8X-ray1.76A/B2-180[»]
1ZN9X-ray2.05A/B1-180[»]
4X44X-ray2.05A1-180[»]
4X45X-ray1.75A/B1-180[»]
6FCHX-ray1.45A/B3-180[»]
6FCIX-ray1.94A/B/C/D2-180[»]
6FCLX-ray1.50A/B3-180[»]
6FD4X-ray1.50A/B3-180[»]
6FD5X-ray1.55A/B3-180[»]
6FD6X-ray1.80A/B3-180[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P07741

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

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SMRi
P07741

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P07741

<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

<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
KOG1712 Eukaryota
COG0503 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000017259

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000036776

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003144

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P07741

KEGG Orthology (KO)

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KOi
K00759

Identification of Orthologs from Complete Genome Data

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OMAi
CAPIRKK

Database of Orthologous Groups

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OrthoDBi
210309at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P07741

TreeFam database of animal gene trees

More...
TreeFami
TF300227

Family and domain databases

Conserved Domains Database

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CDDi
cd06223 PRTases_typeI, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00004 Aden_phosphoribosyltr, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005764 Ade_phspho_trans
IPR000836 PRibTrfase_dom
IPR029057 PRTase-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00156 Pribosyltran, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53271 SSF53271, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01090 apt, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00103 PUR_PYR_PR_TRANSFER, 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 (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P07741-1) [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
MADSELQLVE QRIRSFPDFP TPGVVFRDIS PVLKDPASFR AAIGLLARHL
60 70 80 90 100
KATHGGRIDY IAGLDSRGFL FGPSLAQELG LGCVLIRKRG KLPGPTLWAS
110 120 130 140 150
YSLEYGKAEL EIQKDALEPG QRVVVVDDLL ATGGTMNAAC ELLGRLQAEV
160 170 180
LECVSLVELT SLKGREKLAP VPFFSLLQYE
Length:180
Mass (Da):19,608
Last modified:January 23, 2007 - 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:iCDC7703337A6E453
GO
Isoform 2 (identifier: P07741-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     134-180: GTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE → V

Note: No experimental confirmation available.
Show »
Length:134
Mass (Da):14,557
Checksum:i404EC4ACAE4C29DE
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQB1H3BQB1_HUMAN
Adenine phosphoribosyltransferase
APRT
162Annotation 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>
H3BQZ9H3BQZ9_HUMAN
Adenine phosphoribosyltransferase
APRT
153Annotation 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>
H3BQF1H3BQF1_HUMAN
Adenine phosphoribosyltransferase
APRT
148Annotation 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>
H3BSW3H3BSW3_HUMAN
Adenine phosphoribosyltransferase
APRT
63Annotation 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_06904933L → P in APRTD. 1 Publication1
Natural variantiVAR_00674765D → V in APRTD; Icelandic type. 1 PublicationCorresponds to variant dbSNP:rs104894506EnsemblClinVar.1
Natural variantiVAR_06905084V → M in APRTD. 1 PublicationCorresponds to variant dbSNP:rs200392753Ensembl.1
Natural variantiVAR_006748110L → P in APRTD; Newfoundland type. 1 PublicationCorresponds to variant dbSNP:rs104894508EnsemblClinVar.1
Natural variantiVAR_019055121Q → R1 PublicationCorresponds to variant dbSNP:rs8191494Ensembl.1
Natural variantiVAR_069051133G → D in APRTD. 1 Publication1
Natural variantiVAR_006749136M → T in APRTD; Japanese type; allele APRT*J; most common mutation. 4 PublicationsCorresponds to variant dbSNP:rs28999113EnsemblClinVar.1
Natural variantiVAR_022608150V → F in APRTD. 1 PublicationCorresponds to variant dbSNP:rs281860266EnsemblClinVar.1
Natural variantiVAR_022609153C → R in APRTD. 1 Publication1
Natural variantiVAR_037575173Missing in APRTD. 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_045705134 – 180GTMNA…LLQYE → V in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y00486 Genomic DNA Translation: CAA68543.1
M16446 Genomic DNA Translation: AAA51769.1
CR749423 mRNA Translation: CAH18261.1
AY306126 Genomic DNA Translation: AAP45051.1
AC092384 Genomic DNA No translation available.
CH471184 Genomic DNA Translation: EAW66761.1
BC107151 mRNA Translation: AAI07152.1
BM550173 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32511.1 [P07741-1]
CCDS45546.1 [P07741-2]

Protein sequence database of the Protein Information Resource

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PIRi
S06232 RTHUA

NCBI Reference Sequences

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RefSeqi
NP_000476.1, NM_000485.2 [P07741-1]
NP_001025189.1, NM_001030018.1 [P07741-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.28914

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000378364; ENSP00000367615; ENSG00000198931 [P07741-1]
ENST00000426324; ENSP00000397007; ENSG00000198931 [P07741-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
353

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:353

UCSC genome browser

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UCSCi
uc002flv.4 human [P07741-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs
Wikipedia

Adenine phosphoribosyltransferase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00486 Genomic DNA Translation: CAA68543.1
M16446 Genomic DNA Translation: AAA51769.1
CR749423 mRNA Translation: CAH18261.1
AY306126 Genomic DNA Translation: AAP45051.1
AC092384 Genomic DNA No translation available.
CH471184 Genomic DNA Translation: EAW66761.1
BC107151 mRNA Translation: AAI07152.1
BM550173 mRNA No translation available.
CCDSiCCDS32511.1 [P07741-1]
CCDS45546.1 [P07741-2]
PIRiS06232 RTHUA
RefSeqiNP_000476.1, NM_000485.2 [P07741-1]
NP_001025189.1, NM_001030018.1 [P07741-2]
UniGeneiHs.28914

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OPUmodel-A1-180[»]
1OREX-ray2.10A1-180[»]
1ZN7X-ray1.83A/B1-180[»]
1ZN8X-ray1.76A/B2-180[»]
1ZN9X-ray2.05A/B1-180[»]
4X44X-ray2.05A1-180[»]
4X45X-ray1.75A/B1-180[»]
6FCHX-ray1.45A/B3-180[»]
6FCIX-ray1.94A/B/C/D2-180[»]
6FCLX-ray1.50A/B3-180[»]
6FD4X-ray1.50A/B3-180[»]
6FD5X-ray1.55A/B3-180[»]
6FD6X-ray1.80A/B3-180[»]
ProteinModelPortaliP07741
SMRiP07741
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106849, 38 interactors
IntActiP07741, 7 interactors
MINTiP07741
STRINGi9606.ENSP00000367615

Chemistry databases

DrugBankiDB03506 9-Deazaadenine
DB00173 Adenine
DB00131 Adenosine monophosphate
DB01632 Alpha-Phosphoribosylpyrophosphoric Acid
DB04272 Citric Acid

PTM databases

iPTMnetiP07741
PhosphoSitePlusiP07741
SwissPalmiP07741

Polymorphism and mutation databases

BioMutaiAPRT
DMDMi114074

2D gel databases

SWISS-2DPAGEiP07741

Proteomic databases

EPDiP07741
jPOSTiP07741
MaxQBiP07741
PaxDbiP07741
PeptideAtlasiP07741
PRIDEiP07741
ProteomicsDBi52026
TopDownProteomicsiP07741-1 [P07741-1]
P07741-2 [P07741-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378364; ENSP00000367615; ENSG00000198931 [P07741-1]
ENST00000426324; ENSP00000397007; ENSG00000198931 [P07741-2]
GeneIDi353
KEGGihsa:353
UCSCiuc002flv.4 human [P07741-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
353
DisGeNETi353
EuPathDBiHostDB:ENSG00000198931.10

GeneCards: human genes, protein and diseases

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GeneCardsi
APRT
GeneReviewsiAPRT
HGNCiHGNC:626 APRT
HPAiHPA026681
MalaCardsiAPRT
MIMi102600 gene
614723 phenotype
neXtProtiNX_P07741
OpenTargetsiENSG00000198931
Orphaneti976 Adenine phosphoribosyltransferase deficiency
PharmGKBiPA24914

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1712 Eukaryota
COG0503 LUCA
GeneTreeiENSGT00390000017259
HOGENOMiHOG000036776
HOVERGENiHBG003144
InParanoidiP07741
KOiK00759
OMAiCAPIRKK
OrthoDBi210309at2759
PhylomeDBiP07741
TreeFamiTF300227

Enzyme and pathway databases

UniPathwayi
UPA00588;UER00646

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage
SABIO-RKiP07741

Miscellaneous databases

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

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ChiTaRSi
APRT human
EvolutionaryTraceiP07741

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Adenine_phosphoribosyltransferase

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

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GenomeRNAii
353

Protein Ontology

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PROi
PR:P07741

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198931 Expressed in 222 organ(s), highest expression level in ectocervix
CleanExiHS_APRT
ExpressionAtlasiP07741 baseline and differential
GenevisibleiP07741 HS

Family and domain databases

CDDicd06223 PRTases_typeI, 1 hit
HAMAPiMF_00004 Aden_phosphoribosyltr, 1 hit
InterProiView protein in InterPro
IPR005764 Ade_phspho_trans
IPR000836 PRibTrfase_dom
IPR029057 PRTase-like
PfamiView protein in Pfam
PF00156 Pribosyltran, 1 hit
SUPFAMiSSF53271 SSF53271, 1 hit
TIGRFAMsiTIGR01090 apt, 1 hit
PROSITEiView protein in PROSITE
PS00103 PUR_PYR_PR_TRANSFER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiAPT_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: P07741
Secondary accession number(s): G5E9J2, Q3KP55, Q68DF9
<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: August 1, 1988
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 208 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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