PUS1-1 [mitochondrial matrix]

Stable Identifier
R-HSA-6787555
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
tRNA pseudouridine synthase A, mitochondrial ecNumber5.4.99.12/ecNumber, TRUA_HUMAN
PUS1-1 [mitochondrial matrix] 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
4IQM
4ITS
4J37
4NZ6
4NZ7
51636
57593
65572_at
7959986
80324
A_23_P251771
A_23_P60753
A_24_P335358
AAD21042
AAH02901
AAH09505
AAH19320
AAL55876
ADP90494
ADP90495
ADP90496
ADP90497
ADP90498
ADP90499
ADP90500
ADP90501
ADP90502
ADP90503
ADP90504
ADP90505
ADP90506
ADP90507
ADP90508
ADP90509
ADP90510
ADP90511
ADP90512
ADP90513
ADP90514
ADP90515
ADP90516
ADP90517
ADP90518
ADP90519
ADP90520
ADP90521
ADP90522
ADP90523
ADP90524
ADP90525
ADP90526
ADP90527
ADP90528
ADP90529
ADP90530
ADP90531
ADP90532
ADP90533
ADP90534
ADP90535
ADP90536
ADP90537
ADP90538
ADP90539
ADP90540
ADP90541
ADP90542
ADP90543
ADP90544
ADP90545
ADP90546
ADP90547
ADP90548
ADP90549
ADP90550
ADP90551
ADP90552
ADP90553
ADP90554
ADP90555
ADP90556
ADP90557
ADP90558
ADP90559
ADP90560
ADP90561
ADP90562
ADP90563
ADP90564
ADP90565
ADP90566
ADP90567
ADP90568
ADP90569
ADP90570
ADP90571
ADP90572
ADP90573
AF116238
AF318369
AK074659
AK292242
BAF84931
BAG51983
BC002901
BC009505
BC019320
CCDS31928
CCDS9275
E5KMT5
E5KMT6
ENSG00000177192
ENSP00000365837
ENSP00000392451
ENST00000376649
ENST00000376649.7
ENST00000443358
ENST00000443358.6
EntrezGene:80324
EntrezGene:PUS1
F5GXL3
F5GY32
F5H168
F5H1B2
F5H1S9
F8W9U5
g13376819_3p_at
g13376819_3p_x_at
G8JLB3
GE57019
GO:0000049
GO:0001522
GO:0002153
GO:0003674
GO:0003723
GO:0005575
GO:0005622
GO:0005623
GO:0005634
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
HGNC:15508
HPA051636
HPA057593
HQ205066
HQ205067
HQ205068
HQ205069
HQ205070
HQ205071
HQ205072
HQ205073
HQ205074
HQ205075
HQ205076
HQ205077
HQ205078
HQ205079
HQ205080
HQ205081
HQ205082
HQ205083
HQ205084
HQ205085
HQ205086
HQ205087
HQ205088
HQ205089
HQ205090
HQ205091
HQ205092
HQ205093
HQ205094
HQ205095
HQ205096
HQ205097
HQ205098
HQ205099
HQ205100
HQ205101
HQ205102
HQ205103
HQ205104
HQ205105
ILMN_1662658
ILMN_1672157
ILMN_2411559
IPR001406
IPR020095
IPR020097
IPR020103
IPR041708
MIM:600462
MIM:608109
NM_001002019
NM_001002020
NM_025215
NP_001002019
NP_001002020
NP_079491
PF01416
PH_hs_0002083
PUS1
PUS1-202
PUS1-203
TC12001050.hg
UPI000006FC81
UPI0000137673
XR_001748872
Cross References
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IntEnz
GeneCards
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Orphanet
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