PUS1-1 [mitochondrial matrix]

Stable Identifier
R-HSA-6787555
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
tRNA pseudouridine synthase A, mitochondrial ecNumber5.4.99.12/ecNumber, TRUA_HUMAN
Icon
PUS1-1 [mitochondrial matrix] icon
PUS1-1 [mitochondrial matrix] icon
Locations in the PathwayBrowser
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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)

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

J. Med. Genet. 2007
External Reference Information
External Reference
UniProt:Q9Y606-1 PUS1
Gene Names
PUS1, PP8985
Other Identifiers
11718027_a_at
11718028_x_at
11747921_a_at
16759395
218670_PM_at
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:0003723
GO:0003824
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005759
GO:0006397
GO:0006399
GO:0008033
GO:0008380
GO:0009451
GO:0009982
GO:0016071
GO:0016853
GO:0031119
GO:0043226
GO:0043231
GO:0070902
GO:0106029
GO:0140053
GO:0140098
GO:1990481
HMNXSV003010056
ILMN_1662658
ILMN_1672157
ILMN_2411559
PH_hs_0002083
TC12001050.hg
g13376819_3p_at
g13376819_3p_x_at
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
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