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 PSAT1
Gene summary
Basic gene Info.Gene symbolPSAT1
Gene namephosphoserine aminotransferase 1
SynonymsEPIP|NLS2|PSA|PSAT|PSATD
CytomapUCSC genome browser: 9q21.2
Type of geneprotein-coding
RefGenesNM_021154.4,
NM_058179.3,
Descriptionendometrial progesterone-induced proteinphosphohydroxythreonine aminotransferasephosphoserine aminotransferase
Modification date20141207
dbXrefs MIM : 610936
HGNC : HGNC
Ensembl : ENSG00000135069
HPRD : 17918
Vega : OTTHUMG00000020066
ProteinUniProt: Q9Y617
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PSAT1
BioGPS: 29968
PathwayNCI Pathway Interaction Database: PSAT1
KEGG: PSAT1
REACTOME: PSAT1
Pathway Commons: PSAT1
ContextiHOP: PSAT1
ligand binding site mutation search in PubMed: PSAT1
UCL Cancer Institute: PSAT1
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 PSAT1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C80C80YCOAD1
C80C80YLUSC1
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 PSAT1
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
C80C80Y-0.14901483
(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 PSAT1 from PDB

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Differential gene expression and gene-gene network for PSAT1
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 PSAT1 and the right PPI network was created from samples without mutations in the LBS of PSAT1. 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 PSAT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1970253Phosphoserine Aminotransferase Deficiency1Biomarker, GeneticVariation

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

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Pharmacological information for PSAT1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00114Pyridoxal PhosphateSmall molecule
NutraceuticalDB00142L-Glutamic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PSAT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PLPPYRIDOXAL 5'-PHOSPHATE3e77AC80
PLPPYRIDOXAL 5'-PHOSPHATE3e77BC80


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Conservation information for LBS of PSAT1
Multiple alignments for Q9Y617 in multiple species
LBSAA sequence# speciesSpecies
C152KYLHICANETI2Arabidopsis thaliana, Arabidopsis thaliana
C152SYVYYCANETV1Homo sapiens
C152SYVYLCENETV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C152SLVYYCDNETV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C152AYLYYCANETV1Caenorhabditis elegans
C152SYVYYCDNETV1Drosophila melanogaster
C152SYVYFCANETV1Mus musculus
C80LQGGATTQFAA2Arabidopsis thaliana, Arabidopsis thaliana
C80MQGGGTGQFAA2Caenorhabditis elegans, Drosophila melanogaster
C80LQGGGCGQFSA1Homo sapiens
C80LQGGGTTGFSS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C80MQGGGTEQFAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C80VQGGGSGQFSA1Mus musculus
D176AVLVCDMSSNF2Homo sapiens, Mus musculus
D176IEIVADLSSDI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D176AIRVCDVSSNF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D176V-LIADMSSNF1Arabidopsis thaliana
D176GFLVADMSSNF1Arabidopsis thaliana
D176VPLVADVSSNF1Caenorhabditis elegans
D176VPLVADMSSNF1Drosophila melanogaster
F83GATTQFAALPL2Arabidopsis thaliana, Arabidopsis thaliana
F83GGCGQFSAVPL1Homo sapiens
F83GGTTGFSSVAT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F83GGTEQFAACLY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F83GGTGQFAAIPL1Caenorhabditis elegans
F83GGTGQFAAVAL1Drosophila melanogaster
F83GGSGQFSAVPL1Mus musculus
G78LFLQGGATTQF2Arabidopsis thaliana, Arabidopsis thaliana
G78IFLQGGGCGQF1Homo sapiens
G78FYLQGGGTTGF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G78LFMQGGGTEQF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G78LFMQGGGTGQF1Caenorhabditis elegans
G78LLMQGGGTGQF1Drosophila melanogaster
G78IFVQGGGSGQF1Mus musculus
G79FLQGGATTQFA2Arabidopsis thaliana, Arabidopsis thaliana
G79FLQGGGCGQFS1Homo sapiens
G79YLQGGGTTGFS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G79FMQGGGTEQFA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G79FMQGGGTGQFA1Caenorhabditis elegans
G79LMQGGGTGQFA1Drosophila melanogaster
G79FVQGGGSGQFS1Mus musculus
K200FAGAQKNVGSA2Homo sapiens, Mus musculus
K200MAGAQKNIGLA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K200FAGAQKNAGPA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K200YAGAQKNVGPS1Arabidopsis thaliana
K200YGGAQKNVGPS1Arabidopsis thaliana
K200FGGAQKNLGAA1Caenorhabditis elegans
K200YAGAQKNIGPA1Drosophila melanogaster
N154LHICANETIHG2Arabidopsis thaliana, Arabidopsis thaliana
N154VYYCANETVHG1Homo sapiens
N154VYLCENETVHG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N154VYYCDNETVHG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N154LYYCANETVHG1Caenorhabditis elegans
N154VYYCDNETVEG1Drosophila melanogaster
N154VYFCANETVHG1Mus musculus
N241NSSLYNTPPCF3Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana
N241NNSAYNTIPIF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N241NHSLYNTLPVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N241NNSLYNTPPTG1Caenorhabditis elegans
N241NNSLLNTPPTF1Drosophila melanogaster
N241NNSLYNTPPCF1Mus musculus
Q199IFAGAQKNVGS2Homo sapiens, Mus musculus
Q199IMAGAQKNIGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q199IFAGAQKNAGP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q199IYAGAQKNVGP1Arabidopsis thaliana
Q199IYGGAQKNVGP1Arabidopsis thaliana
Q199VFGGAQKNLGA1Caenorhabditis elegans
Q199IYAGAQKNIGP1Drosophila melanogaster
S178LVCDMSSNFLS2Homo sapiens, Mus musculus
S178IVADLSSDILS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S178RVCDVSSNFIS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S178LIADMSSNFCS1Arabidopsis thaliana
S178LVADMSSNFCS1Arabidopsis thaliana
S178LVADVSSNFMA1Caenorhabditis elegans
S178LVADMSSNFLS1Drosophila melanogaster
S179VCDMSSNFLSK1Homo sapiens
S179VADLSSDILSR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S179VCDVSSNFISR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S179IADMSSNFCSK1Arabidopsis thaliana
S179VADMSSNFCSK1Arabidopsis thaliana
S179VADVSSNFMAR1Caenorhabditis elegans
S179VADMSSNFLSR1Drosophila melanogaster
S179VCDMSSNFLSR1Mus musculus
T156ICANETIHGVE2Arabidopsis thaliana, Arabidopsis thaliana
T156YCANETVHGVE1Homo sapiens
T156LCENETVHGVE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T156YCDNETVHGVE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T156YCANETVHGIE1Caenorhabditis elegans
T156YCDNETVEGVE1Drosophila melanogaster
T156FCANETVHGVE1Mus musculus
T242SSLYNTPPCFG2Arabidopsis thaliana, Arabidopsis thaliana
T242SSLYNTPPCFS1Homo sapiens
T242NSAYNTIPIFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T242HSLYNTLPVAT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T242NSLYNTPPTGG1Caenorhabditis elegans
T242NSLLNTPPTFG1Drosophila melanogaster
T242NSLYNTPPCFS1Mus musculus
W107VVTGAWSAKAA2Homo sapiens, Mus musculus
W107LVTGSWSQKSF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W107IITGAWSKKAY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W107IVTGSWGDKAF1Arabidopsis thaliana
W107VVTGSWGDKAV1Arabidopsis thaliana
W107IVTGAWSSKAA1Caenorhabditis elegans
W107VITGSWSAKAA1Drosophila melanogaster


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