APRT D65V [cytosol]

Stable Identifier
R-HSA-9734183
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Adenine phosphoribosyltransferase D65V
APRT D65V [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1746557 Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient

Tischfield, JA, Stambrook, PJ, Sahota, A, Chen, J, Scrine, M, Bowman, S, Cui, C, Laxdal, T

Am J Hum Genet 1991
External Reference Information
External Reference
Gene Names
APRT
Chain
initiator methionine:, chain:2-180
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
Other forms of this molecule
Modified Residues
Name
L-aspartic acid 65 replaced with L-valine
Coordinate
65
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-valine.
A protein modification that effectively removes or replaces an L-aspartic acid.
Disease
Name Identifier Synonyms
adenine phosphoribosyltransferase deficiency DOID:0060350 APRT deficiency, 2,8-dihydroxyadenine urolithiasis
Cross References
OpenTargets
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
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