APRT L110P [cytosol]

Stable Identifier
R-HSA-9734191
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Adenine phosphoribosyltransferase L110P
Icon
APRT L110P [cytosol] icon
APRT L110P [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
7915931 Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis

Boyadjiev, SA, Tischfield, JA, Chen, J, Sahota, A, Gault, MH

Hum Mol Genet 1994
External Reference Information
External Reference
UniProt:P07741 APRT
Gene Names
APRT
Chain
initiator methionine:, chain:2-180
Reference Genes
BioGPS Gene:353 APRT
COSMIC (genes):APRT APRT
CTD Gene:353 APRT
dbSNP Gene:353 APRT
ENSEMBL:ENSG00000198931 APRT
ENSEMBL_homo_sapiens_GENE:ENSG00000198931.11 APRT
HGNC:626 APRT
KEGG Gene (Homo sapiens):353 APRT
Monarch:353 APRT
NCBI Gene:353 APRT
OMIM:102600 APRT
UCSC:P07741 APRT
Reference Transcript
Other Identifiers
11742692_a_at
16829235
203219_PM_s_at
203219_s_at
213892_PM_s_at
213892_s_at
34310_at
353
3704496
3704497
3704501
3704503
3704506
3704508
3704509
8003401
91472_r_at
A_23_P117955
A_33_P3360097
GE79833
GO:0002055
GO:0003824
GO:0003999
GO:0005515
GO:0005576
GO:0005615
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0006166
GO:0006168
GO:0007625
GO:0016208
GO:0016740
GO:0016757
GO:0031410
GO:0032263
GO:0032264
GO:0034774
GO:0043226
GO:0044209
GO:0046083
GO:0055086
GO:0070062
GO:1901135
HMNXSV003045239
Hs.28914.1.S1_3p_a_at
ILMN_1722491
ILMN_1726410
PH_hs_0002524
TC16001344.hg
Y00486_rna1_at
Participates
as a component of
Other forms of this molecule
APRT D65V [cytosol]
APRT M136T [cytosol]
APRT [cytosol]
APRT [secretory granule lumen]
APRT [extracellular region]
Modified Residues
Name
L-leucine 110 replaced with L-proline
Coordinate
110
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name Identifier Synonyms
adenine phosphoribosyltransferase deficiency DOID:0060350 APRT deficiency, 2,8-dihydroxyadenine urolithiasis
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q6DKK2 TTC19  1 0.556 3
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