PUS1-2 [nucleoplasm]

Stable Identifier
R-HSA-6782373
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
tRNA pseudouridine synthase A, mitochondrial ecNumber5.4.99.12/ecNumber, TRUA_HUMAN
PUS1-2 [nucleoplasm] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
17056637 Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Fernandez-Vizarra, E, Berardinelli, A, Valente, L, Tiranti, V, Zeviani, M

J. Med. Genet. 2007
External Reference Information
External Reference
Gene Names
PUS1, PP8985
Other Identifiers
0003990113
11718027_a_at
11718028_x_at
11747921_a_at
16759395
218670_at
3438582
3438583
3438584
3438585
3438587
3438588
3438592
3438593
3438600
3438602
3438607
3438608
3438609
3438610
3438611
3438612
3438613
3438614
3438616
44280_i_at
44281_r_at
65572_at
7959986
80324
A_23_P251771
A_23_P60753
A_24_P335358
GE57019
GO:0000049
GO:0001522
GO:0002153
GO:0003674
GO:0003723
GO:0005575
GO:0005622
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005759
GO:0006399
GO:0008033
GO:0008150
GO:0009451
GO:0009982
GO:0016853
GO:0031119
GO:0034641
GO:0043226
GO:0070902
GO:0106029
GO:1990481
ILMN_1662658
ILMN_1672157
ILMN_2411559
PH_hs_0002083
TC12001050.hg
g13376819_3p_at
g13376819_3p_x_at
Cite Us!