mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PUS1
Gene summary
Basic gene Info.Gene symbolPUS1
Gene namepseudouridylate synthase 1
SynonymsMLASA1
CytomapUCSC genome browser: 12q24.33
Type of geneprotein-coding
RefGenesNM_001002019.2,
NM_001002020.2,NM_025215.5,
Descriptionmitochondrial tRNA pseudouridine synthase AtRNA pseudouridine synthase A, mitochondrialtRNA pseudouridine(38-40) synthasetRNA pseudouridylate synthase ItRNA uridine isomerase ItRNA-uridine isomerase I
Modification date20141207
dbXrefs MIM : 608109
HGNC : HGNC
Ensembl : ENSG00000177192
HPRD : 10481
Vega : OTTHUMG00000128507
ProteinUniProt: Q9Y606
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PUS1
BioGPS: 80324
PathwayNCI Pathway Interaction Database: PUS1
KEGG: PUS1
REACTOME: PUS1
Pathway Commons: PUS1
ContextiHOP: PUS1
ligand binding site mutation search in PubMed: PUS1
UCL Cancer Institute: PUS1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for PUS1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R144A143TSTAD1
R144A143TUCEC1
R144R144QUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for PUS1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
R144A143T-1.202663
R144R144Q-0.73135174
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for PUS1 from PDB

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Differential gene expression and gene-gene network for PUS1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of PUS1 and the right PPI network was created from samples without mutations in the LBS of PUS1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for PUS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1838103Myopathy with lactic acidosis and sideroblastic anemia4Biomarker, GeneticVariation
umls:C0242656Disease Progression1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for PUS1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PUS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MES2-(N-MORPHOLINIUMYL)ETHANESULFONATE4itsAR144
DLYD-LYSINE4nz6AR144


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Conservation information for LBS of PUS1
Multiple alignments for Q9Y606 in multiple species
LBSAA sequence# speciesSpecies
D146RAARTDKGVHA4Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 /
D146RCARTDKGVSA2Homo sapiens, Rattus norvegicus
F289IHGQSFMLHQI3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F289VKGQSFMMHQI2Homo sapiens, Rattus norvegicus
F289VHGQSFMLHQI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H292QSFMLHQIRKM4Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 /
H292QSFMMHQIRKM2Homo sapiens, Rattus norvegicus
I294FMMHQIRKMVG2Homo sapiens, Rattus norvegicus
I294FMLHQIRKMIS2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I294FMLHQIRKMIA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I294FMLHQIRKMVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K327KINIPKAPALG3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K327KVDVPKAPGLG2Homo sapiens, Rattus norvegicus
K327KINIPKGPGFG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L333APGLGLVLERV2Homo sapiens, Rattus norvegicus
L333APALGLLLEAP2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L333GPGFGLLLESP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L333APALGLLLESP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
M290HGQSFMLHQIR4Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 /
M290KGQSFMMHQIR2Homo sapiens, Rattus norvegicus
M291GQSFMLHQIRK4Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 /
M291GQSFMMHQIRK2Homo sapiens, Rattus norvegicus
Q293SFMLHQIRKMI3Schizosaccharomyces pombe (strain 972 / ATCC 24843), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q293SFMMHQIRKMV2Homo sapiens, Rattus norvegicus
Q293SFMLHQIRKMV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R144FQRCARTDKGV2Homo sapiens, Rattus norvegicus
R144FMRAARTDKGV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R144LARAARTDKGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R144FQRAARTDKGV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R295MMHQIRKMVGL2Homo sapiens, Rattus norvegicus
R295MLHQIRKMISM2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R295MLHQIRKMIAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R295MLHQIRKMVSM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T145QRCARTDKGVS2Homo sapiens, Rattus norvegicus
T145MRAARTDKGVH2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T145ARAARTDKGVH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T145QRAARTDKGVH1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V149RTDKGVHAGGN3Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V149RTDKGVSAAGQ2Homo sapiens, Rattus norvegicus
V149RTDKGVHAAGN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y201CSSRWYEYLLP2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y201CDARTYCYLLP1Homo sapiens
Y201CDARTYCYMLP1Rattus norvegicus
Y201CESRIYEYMVP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y201CGSRWYEYLLP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)


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