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TPMT Y240C [cytosol]
Stable Identifier
R-HSA-5603343
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Thiopurine S-methyltransferase, TPMT_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective TPMT causes TPMT deficiency (Homo sapiens)
TPMT does not transfer CH3 from AdoMet to 6MP (Homo sapiens)
TPMT mutants [cytosol] (Homo sapiens)
TPMT Y240C [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P51580 TPMT
Gene Names
TPMT
Chain
chain:1-245
Reference Genes
BioGPS Gene:7172 TPMT
COSMIC (genes):TPMT TPMT
CTD Gene:7172 TPMT
dbSNP Gene:7172 TPMT
ENSEMBL:ENSG00000137364 TPMT
HGNC:12014 TPMT
KEGG:hsa:7172 TPMT
Monarch:7172 TPMT
NCBI Gene:7172 TPMT
OMIM:187680 TPMT
UCSC:P51580 TPMT
Reference Transcript
RefSeq:NM_001346818.1 TPMT
RefSeq:NM_001346817.1 TPMT
RefSeq:NM_000367.4 TPMT
Other Identifiers
11727822_a_at
11727823_x_at
11727824_at
11727825_x_at
17015975
203671_PM_at
203671_at
203672_PM_x_at
203672_x_at
2944026
2944027
2944028
2944029
2944030
2944031
2944034
2944035
2944037
2944038
2944040
2944042
2944043
2944044
2944045
2944050
32810_at
3787362
3787364
7172
8124134
A_23_P214108
A_24_P397498
A_33_P3317321
GE62974
GO:0003824
GO:0005515
GO:0005737
GO:0005829
GO:0006139
GO:0006805
GO:0008119
GO:0008168
GO:0008757
GO:0016740
GO:0032259
GO:0042178
GO:1904047
HMNXSV003028526
Hs.296922.0.A4_3p_at
ILMN_1740185
PH_hs_0024285
S62904_s_at
TC06001301.hg
U12387_s_at
g805083_3p_a_at
Participates
as a member of
TPMT mutants [cytosol] (Homo sapiens)
Other forms of this molecule
TPMT A167G [cytosol]
TPMT A80P [cytosol]
TPMT A154T [cytosol]
TPMT [cytosol]
Modified Residues
Name
L-tyrosine 240 replaced with L-cysteine
Coordinate
240
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
inherited metabolic disorder
DOID:655
Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
Cross References
ENSEMBL
ENSP00000312304
,
ENST00000309983
OpenTargets
ENSG00000137364
ZINC - Substances
TPMT_HUMAN
ZINC - Biogenic
TPMT_HUMAN
ZINC target
P51580
PRO
P51580
GlyGen
P51580
PDB
2H11
,
2BZG
ZINC - Metabolites
TPMT_HUMAN
IntEnz
2.1.1.67
HPA
ENSG00000137364-TPMT
Pharos - Targets
P51580
ZINC - Predictions - Purchasable
TPMT_HUMAN
HMDB Protein
HMDBP00428
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P61981 YWHAG
1
YWHAG [cytosol]
(R-HSA-380312)
0.556
3
UniProt:Q8TAP4-4 LMO3
0.556
3
UniProt:Q15047-2 SETDB1
0.556
3
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