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Protein

Adenine phosphoribosyltransferase

Gene

APRT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: GO_Central
  • adenine phosphoribosyltransferase activity Source: GO_Central
  • AMP binding Source: MGI

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processPurine salvage

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-74217 Purine salvage
SABIO-RKiP07741
UniPathwayi
UPA00588;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

EuPathDBiHostDB:ENSG00000198931.10
HGNCiHGNC:626 APRT
MIMi102600 gene
neXtProtiNX_P07741

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

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 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

DisGeNETi353
GeneReviewsiAPRT
MalaCardsiAPRT
MIMi614723 phenotype
OpenTargetsiENSG00000198931
Orphaneti976 Adenine phosphoribosyltransferase deficiency
PharmGKBiPA24914

Chemistry databases

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

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
ProteomicsDBi52026
TopDownProteomicsiP07741-1 [P07741-1]
P07741-2 [P07741-2]

2D gel databases

SWISS-2DPAGEiP07741

PTM databases

iPTMnetiP07741
PhosphoSitePlusiP07741
SwissPalmiP07741

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA026681

Interactioni

Subunit structurei

Homodimer.

Protein-protein interaction databases

BioGridi106849, 35 interactors
IntActiP07741, 7 interactors
MINTiP07741
STRINGi9606.ENSP00000367615

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliP07741
SMRiP07741
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07741

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

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

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

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

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
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

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:
H3BQF1H3BQF1_HUMAN
Adenine phosphoribosyltransferase
APRT
148Annotation score:
H3BQZ9H3BQZ9_HUMAN
Adenine phosphoribosyltransferase
APRT
153Annotation score:
H3BSW3H3BSW3_HUMAN
Adenine phosphoribosyltransferase
APRT
63Annotation score:

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
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

Similar proteinsi

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[»]
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, 35 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
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

CTDi353
DisGeNETi353
EuPathDBiHostDB:ENSG00000198931.10
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
OMAiCAPIRKK
OrthoDBiEOG091G0XZC
PhylomeDBiP07741
TreeFamiTF300227

Enzyme and pathway databases

UniPathwayi
UPA00588;UER00646

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

Miscellaneous databases

ChiTaRSiAPRT human
EvolutionaryTraceiP07741
GeneWikiiAdenine_phosphoribosyltransferase
GenomeRNAii353
PROiPR:P07741
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiAPT_HUMAN
AccessioniPrimary (citable) accession number: P07741
Secondary accession number(s): G5E9J2, Q3KP55, Q68DF9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 206 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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