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Protein

Adenine phosphoribosyltransferase

Gene

APRT

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

Functioni

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

Catalytic activityi

AMP + diphosphate = adenine + 5-phospho-alpha-D-ribose 1-diphosphate.

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.

GO - Molecular functioni

  • adenine binding Source: Ensembl
  • adenine phosphoribosyltransferase activity Source: Reactome
  • AMP binding Source: MGI

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Purine salvage

Enzyme and pathway databases

BioCyciZFISH:HS08312-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-74217. Purine salvage.
SABIO-RKP07741.
UniPathwayiUPA00588; UER00646.

Names & Taxonomyi

Protein namesi
Recommended name:
Adenine phosphoribosyltransferase (EC:2.4.2.7)
Short name:
APRT
Gene namesi
Name:APRT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:626. APRT.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

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
Natural variantiVAR_06904933L → P in APRTD. 1 Publication1
Natural variantiVAR_00674765D → V in APRTD; Icelandic type. 1 PublicationCorresponds to variant rs104894506dbSNPEnsembl.1
Natural variantiVAR_06905084V → M in APRTD. 1 PublicationCorresponds to variant rs200392753dbSNPEnsembl.1
Natural variantiVAR_006748110L → P in APRTD; Newfoundland type. 1 PublicationCorresponds to variant rs104894508dbSNPEnsembl.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 rs28999113dbSNPEnsembl.1
Natural variantiVAR_022608150V → F in APRTD. 1 PublicationCorresponds to variant rs281860266dbSNPEnsembl.1
Natural variantiVAR_022609153C → R in APRTD. 1 Publication1
Natural variantiVAR_037575173Missing in APRTD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi353.
MalaCardsiAPRT.
MIMi614723. phenotype.
OpenTargetsiENSG00000198931.
Orphaneti976. Adenine phosphoribosyltransferase deficiency.
PharmGKBiPA24914.

Chemistry databases

DrugBankiDB00173. Adenine.
DB00131. Adenosine monophosphate.

Polymorphism and mutation databases

BioMutaiAPRT.
DMDMi114074.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources2 Publications
ChainiPRO_00001495042 – 180Adenine phosphoribosyltransferaseAdd BLAST179

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

2D gel databases

SWISS-2DPAGEP07741.

PTM databases

iPTMnetiP07741.
PhosphoSitePlusiP07741.
SwissPalmiP07741.

Expressioni

Gene expression databases

BgeeiENSG00000198931.
CleanExiHS_APRT.
ExpressionAtlasiP07741. baseline and differential.
GenevisibleiP07741. HS.

Organism-specific databases

HPAiHPA026681.

Interactioni

Subunit structurei

Homodimer.

Protein-protein interaction databases

BioGridi106849. 26 interactors.
IntActiP07741. 4 interactors.
MINTiMINT-4999823.
STRINGi9606.ENSP00000367615.

Structurei

Secondary structure

1180
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi5 – 10Combined sources6
Beta strandi14 – 17Combined sources4
Beta strandi19 – 21Combined sources3
Beta strandi25 – 28Combined sources4
Helixi30 – 34Combined sources5
Helixi36 – 54Combined sources19
Beta strandi60 – 64Combined sources5
Helixi67 – 70Combined sources4
Helixi72 – 79Combined sources8
Beta strandi82 – 88Combined sources7
Beta strandi94 – 103Combined sources10
Beta strandi106 – 113Combined sources8
Beta strandi122 – 126Combined sources5
Beta strandi128 – 132Combined sources5
Helixi134 – 145Combined sources12
Beta strandi149 – 159Combined sources11
Helixi160 – 162Combined sources3
Helixi164 – 168Combined sources5
Beta strandi173 – 179Combined sources7

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[»]
ProteinModelPortaliP07741.
SMRiP07741.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07741.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1712. Eukaryota.
COG0503. LUCA.
GeneTreeiENSGT00390000017259.
HOGENOMiHOG000036776.
HOVERGENiHBG003144.
InParanoidiP07741.
KOiK00759.
OMAiVHALCAF.
OrthoDBiEOG091G0XZC.
PhylomeDBiP07741.
TreeFamiTF300227.

Family and domain databases

CDDicd06223. PRTases_typeI. 1 hit.
Gene3Di3.40.50.2020. 1 hit.
HAMAPiMF_00004. Aden_phosphoribosyltr. 1 hit.
InterProiIPR005764. Ade_phspho_trans.
IPR000836. PRibTrfase_dom.
IPR029057. PRTase-like.
[Graphical view]
PfamiPF00156. Pribosyltran. 1 hit.
[Graphical view]
SUPFAMiSSF53271. SSF53271. 1 hit.
TIGRFAMsiTIGR01090. apt. 1 hit.
PROSITEiPS00103. PUR_PYR_PR_TRANSFER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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 rs104894506dbSNPEnsembl.1
Natural variantiVAR_06905084V → M in APRTD. 1 PublicationCorresponds to variant rs200392753dbSNPEnsembl.1
Natural variantiVAR_006748110L → P in APRTD; Newfoundland type. 1 PublicationCorresponds to variant rs104894508dbSNPEnsembl.1
Natural variantiVAR_019055121Q → R.1 PublicationCorresponds to variant rs8191494dbSNPEnsembl.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 rs28999113dbSNPEnsembl.1
Natural variantiVAR_022608150V → F in APRTD. 1 PublicationCorresponds to variant rs281860266dbSNPEnsembl.1
Natural variantiVAR_022609153C → R in APRTD. 1 Publication1
Natural variantiVAR_037575173Missing in APRTD. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045705134 – 180GTMNA…LLQYE → V in isoform 2. 1 PublicationAdd BLAST47

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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[»]
ProteinModelPortaliP07741.
SMRiP07741.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106849. 26 interactors.
IntActiP07741. 4 interactors.
MINTiMINT-4999823.
STRINGi9606.ENSP00000367615.

Chemistry databases

DrugBankiDB00173. Adenine.
DB00131. Adenosine monophosphate.

PTM databases

iPTMnetiP07741.
PhosphoSitePlusiP07741.
SwissPalmiP07741.

Polymorphism and mutation databases

BioMutaiAPRT.
DMDMi114074.

2D gel databases

SWISS-2DPAGEP07741.

Proteomic databases

EPDiP07741.
MaxQBiP07741.
PaxDbiP07741.
PeptideAtlasiP07741.
PRIDEiP07741.
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

CTDi353.
DisGeNETi353.
GeneCardsiAPRT.
GeneReviewsiAPRT.
HGNCiHGNC:626. APRT.
HPAiHPA026681.
MalaCardsiAPRT.
MIMi102600. gene.
614723. phenotype.
neXtProtiNX_P07741.
OpenTargetsiENSG00000198931.
Orphaneti976. Adenine phosphoribosyltransferase deficiency.
PharmGKBiPA24914.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1712. Eukaryota.
COG0503. LUCA.
GeneTreeiENSGT00390000017259.
HOGENOMiHOG000036776.
HOVERGENiHBG003144.
InParanoidiP07741.
KOiK00759.
OMAiVHALCAF.
OrthoDBiEOG091G0XZC.
PhylomeDBiP07741.
TreeFamiTF300227.

Enzyme and pathway databases

UniPathwayiUPA00588; UER00646.
BioCyciZFISH:HS08312-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-74217. Purine salvage.
SABIO-RKP07741.

Miscellaneous databases

ChiTaRSiAPRT. human.
EvolutionaryTraceiP07741.
GeneWikiiAdenine_phosphoribosyltransferase.
GenomeRNAii353.
PROiP07741.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198931.
CleanExiHS_APRT.
ExpressionAtlasiP07741. baseline and differential.
GenevisibleiP07741. HS.

Family and domain databases

CDDicd06223. PRTases_typeI. 1 hit.
Gene3Di3.40.50.2020. 1 hit.
HAMAPiMF_00004. Aden_phosphoribosyltr. 1 hit.
InterProiIPR005764. Ade_phspho_trans.
IPR000836. PRibTrfase_dom.
IPR029057. PRTase-like.
[Graphical view]
PfamiPF00156. Pribosyltran. 1 hit.
[Graphical view]
SUPFAMiSSF53271. SSF53271. 1 hit.
TIGRFAMsiTIGR01090. apt. 1 hit.
PROSITEiPS00103. PUR_PYR_PR_TRANSFER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAPT_HUMAN
AccessioniPrimary (citable) accession number: P07741
Secondary accession number(s): G5E9J2, Q3KP55, Q68DF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 191 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.