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 CTSD
Gene summary
Basic gene Info.Gene symbolCTSD
Gene namecathepsin D
SynonymsCLN10|CPSD|HEL-S-130P
CytomapUCSC genome browser: 11p15.5
Type of geneprotein-coding
RefGenesNM_001909.4,
Descriptionceroid-lipofuscinosis, neuronal 10epididymis secretory sperm binding protein Li 130Plysosomal aspartyl peptidaselysosomal aspartyl protease
Modification date20141219
dbXrefs MIM : 116840
HGNC : HGNC
Ensembl : ENSG00000117984
HPRD : 00291
Vega : OTTHUMG00000044760
ProteinUniProt: P07339
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CTSD
BioGPS: 1509
PathwayNCI Pathway Interaction Database: CTSD
KEGG: CTSD
REACTOME: CTSD
Pathway Commons: CTSD
ContextiHOP: CTSD
ligand binding site mutation search in PubMed: CTSD
UCL Cancer Institute: CTSD
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_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 CTSD

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D295D295NCOAD1
I384W383CLUAD1
E324Q322KSKCM1
F190A192SSTAD1
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 CTSD
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
F190A192S-0.76706999
D295D295N-0.74992423
I384W383C-0.60030351
E324Q322K-0.54566585
(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 CTSD from PDB

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Differential gene expression and gene-gene network for CTSD
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 CTSD and the right PPI network was created from samples without mutations in the LBS of CTSD. 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 CTSD
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular4Biomarker
umls:C1864669Ceroid Lipofuscinosis, Neuronal, 102Biomarker, GeneticVariation
umls:C0003873Arthritis, Rheumatoid2Biomarker
umls:C0029408Osteoarthritis2Biomarker
umls:C1862939Amyotrophic lateral sclerosis 11Biomarker
umls:C0007134Carcinoma, Renal Cell1Biomarker
umls:C0022658Kidney Diseases1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker
umls:C0043094Weight Gain1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
32613W383CPathogenicGermlineGeneReviews:NBK1428
MedGen:C1864669
OMIM:610127

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Pharmacological information for CTSD
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
Approved|investigationalDB00030Insulin HumanBiotech
ApprovedDB00071Insulin PorkBiotech
ExperimentalDB02216S-MethylcysteineSmall molecule
ExperimentalDB030281h-Benoximidazole-2-Carboxylic AcidSmall molecule
ExperimentalDB03096N-AminoethylmorpholineSmall molecule
ExperimentalDB075425-AMINO-6-CYCLOHEXYL-4-HYDROXY-2-ISOBUTYL-HEXANOIC ACIDSmall molecule
ExperimentalDB08740CYCLOHEXYLMETHYL-2,3-DIHYDROXY-5-METHYL-HEXYLAMIDESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CTSD go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CTSD
Multiple alignments for P07339 in multiple species
LBSAA sequence# speciesSpecies
A77KNYMDAQYYGE2Homo sapiens, Gallus gallus
A77KNYLDAQYYGE2Arabidopsis thaliana, Arabidopsis thaliana
A77TNYLNAQYYTD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A77TNFMNAQYFSE1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A77KNYMNAQYFGE1Oryza sativa subsp. japonica
A77KNYLDAQYYGD1Mus musculus
A77RNYMDAQYYGE1Canis lupus familiaris
D295CEAIVDTGTSL4Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris
D295CSAIADSGTSL3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
D295--AAIDTGTSL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D295--VILDTGTSL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D97FTVVFDTGSSN5Homo sapiens, Arabidopsis thaliana, Gallus gallus, Mus musculus, Canis lupus familiaris
D97FTVIFDTGSSN2Oryza sativa subsp. japonica, Arabidopsis thaliana
D97FKVILDTGSSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D97FKVVLDTGSSN1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E324PLIQGEYMIPC3Homo sapiens, Mus musculus, Canis lupus familiaris
E324KGWTGQYTLDC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E324KSWNGQFTIDC1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E324PSPMGESSVDC1Oryza sativa subsp. japonica
E324PSPMGESAVDC1Arabidopsis thaliana
E324PSPNGESAVDC1Arabidopsis thaliana
E324PLIKGQYVISC1Gallus gallus
F190QPGITFIAAKF3Homo sapiens, Gallus gallus, Canis lupus familiaris
F190EPGLTFAFGKF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F190EPGLAFAFGRF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F190EPGLTFMVAKF1Oryza sativa subsp. japonica
F190EPGITFVVAKF1Arabidopsis thaliana
F190EPGLTFLVAKF1Arabidopsis thaliana
F190QPGIVFVAAKF1Mus musculus
F195FIAAKFDGILG3Homo sapiens, Gallus gallus, Canis lupus familiaris
F195FAFGKFDGILG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F195FAFGRFDGILG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F195FMVAKFDGILG1Oryza sativa subsp. japonica
F195FVVAKFDGILG1Arabidopsis thaliana
F195FLVAKFDGLLG1Arabidopsis thaliana
F195FVAAKFDGILG1Mus musculus
G143FDIHYGSGSLS3Homo sapiens, Mus musculus, Canis lupus familiaris
G143FAIQYGTGSLE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G143FKIEYGSGSLS1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G143AAIQYGTGSIA1Oryza sativa subsp. japonica
G143AAIHYGTGAIA1Arabidopsis thaliana
G143AAIHYGSGSIS1Arabidopsis thaliana
G143FAIHYGTGSLS1Gallus gallus
G297AIADSGTSLLA3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
G297AIVDTGTSLMV1Homo sapiens
G297AAIDTGTSLIT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G297VILDTGTSLIA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G297AIVDTGTSLIT1Gallus gallus
G297AIVDTGTSLLV1Mus musculus
G297AIVDTGTSLIV1Canis lupus familiaris
G99VVFDTGSSNLW5Homo sapiens, Arabidopsis thaliana, Gallus gallus, Mus musculus, Canis lupus familiaris
G99VIFDTGSSNLW2Oryza sativa subsp. japonica, Arabidopsis thaliana
G99VILDTGSSNLW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G99VVLDTGSSNLW1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H141TSFDIHYGSGS3Homo sapiens, Mus musculus, Canis lupus familiaris
H141TEFAIQYGTGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H141TSFKIEYGSGS1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
H141KPAAIQYGTGS1Oryza sativa subsp. japonica
H141KAAAIHYGTGA1Arabidopsis thaliana
H141KRAAIHYGSGS1Arabidopsis thaliana
H141TEFAIHYGTGS1Gallus gallus
I198AKFDGILGMAY2Homo sapiens, Canis lupus familiaris
I198AKFDGILGLGF2Oryza sativa subsp. japonica, Arabidopsis thaliana
I198GKFDGILGLGY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I198GRFDGILGLGY1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I198AKFDGLLGLGF1Arabidopsis thaliana
I198AKFDGILGMAF1Gallus gallus
I198AKFDGILGMGY1Mus musculus
I206MAYPRISVNNV2Homo sapiens, Canis lupus familiaris
I206LGYDTISVDKV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I206LGYDRIAVNGI1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I206LGFQEISVGDA1Oryza sativa subsp. japonica
I206LGFQEISVGKA1Arabidopsis thaliana
I206LGFQEIAVGNA1Arabidopsis thaliana
I206MAFPRISVDKV1Gallus gallus
I206MGYPHISVNNV1Mus musculus
I293SGCSAIADSGT3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
I293GGCEAIVDTGT3Gallus gallus, Mus musculus, Canis lupus familiaris
I293EGCEAIVDTGT1Homo sapiens
I293HG--AAIDTGT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I293HG--VILDTGT1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I375FMGMDIPPPSG2Homo sapiens, Mus musculus
I375ITPMDFPEPVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I375FMGMDMPAPVG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I375FTAMDIPPPRG1Oryza sativa subsp. japonica
I375FIALDVAPPRG1Arabidopsis thaliana
I375FTALDIPPPRG1Arabidopsis thaliana
I375FSGLDVPPPGG1Gallus gallus
I375FMGMDIPPPGG1Canis lupus familiaris
I384RGPLWILGDVF3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
I384SGPLWILGDVF2Homo sapiens, Mus musculus
I384GGPLWILGDVF2Gallus gallus, Canis lupus familiaris
I384VGPLAIVGDAF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I384VGPLAILGDAF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L300DSGTSLLAGPT3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
L300DTGTSLMVGPV1Homo sapiens
L300DTGTSLITLPS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L300DTGTSLIALPS1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L300DTGTSLITGPT1Gallus gallus
L300DTGTSLLVGPV1Mus musculus
L300DTGTSLIVGPV1Canis lupus familiaris
M373SGFMGMDIPPP3Homo sapiens, Mus musculus, Canis lupus familiaris
M373SAITPMDFPEP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M373STFMGMDMPAP1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
M373SGFTAMDIPPP1Oryza sativa subsp. japonica
M373SGFIALDVAPP1Arabidopsis thaliana
M373SGFTALDIPPP1Arabidopsis thaliana
M373SGFSGLDVPPP1Gallus gallus
S100VFDTGSSNLWV5Homo sapiens, Arabidopsis thaliana, Gallus gallus, Mus musculus, Canis lupus familiaris
S100IFDTGSSNLWV2Oryza sativa subsp. japonica, Arabidopsis thaliana
S100ILDTGSSNLWV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S100VLDTGSSNLWV1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S144DIHYGSGSLSG3Homo sapiens, Mus musculus, Canis lupus familiaris
S144AIQYGTGSLEG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S144KIEYGSGSLSG1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S144AIQYGTGSIAG1Oryza sativa subsp. japonica
S144AIHYGTGAIAG1Arabidopsis thaliana
S144AIHYGSGSISG1Arabidopsis thaliana
S144AIHYGTGSLSG1Gallus gallus
S299ADSGTSLLAGP3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
S299VDTGTSLMVGP1Homo sapiens
S299IDTGTSLITLP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S299LDTGTSLIALP1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S299VDTGTSLITGP1Gallus gallus
S299VDTGTSLLVGP1Mus musculus
S299VDTGTSLIVGP1Canis lupus familiaris
S379DIPPPSGPLWI2Homo sapiens, Mus musculus
S379DIPPPRGPLWI2Oryza sativa subsp. japonica, Arabidopsis thaliana
S379DFPEPVGPLAI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S379DMPAPVGPLAI1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S379DVAPPRGPLWI1Arabidopsis thaliana
S379DVPPPGGPLWI1Gallus gallus
S379DIPPPGGPLWI1Canis lupus familiaris
T189KQPGITFIAAK3Homo sapiens, Gallus gallus, Canis lupus familiaris
T189SEPGLTFAFGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T189SEPGLAFAFGR1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T189KEPGLTFMVAK1Oryza sativa subsp. japonica
T189KEPGITFVVAK1Arabidopsis thaliana
T189SEPGLTFLVAK1Arabidopsis thaliana
T189KQPGIVFVAAK1Mus musculus
T298IADSGTSLLAG3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
T298IVDTGTSLMVG1Homo sapiens
T298AIDTGTSLITL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T298ILDTGTSLIAL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
T298IVDTGTSLITG1Gallus gallus
T298IVDTGTSLLVG1Mus musculus
T298IVDTGTSLIVG1Canis lupus familiaris
V95QCFTVVFDTGS3Homo sapiens, Mus musculus, Canis lupus familiaris
V95QKFTVIFDTGS2Oryza sativa subsp. japonica, Arabidopsis thaliana
V95QKFTVVFDTGS2Arabidopsis thaliana, Gallus gallus
V95QNFKVILDTGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V95QTFKVVLDTGS1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y142SFDIHYGSGSL3Homo sapiens, Mus musculus, Canis lupus familiaris
Y142EFAIQYGTGSL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y142SFKIEYGSGSL1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y142PAAIQYGTGSI1Oryza sativa subsp. japonica
Y142AAAIHYGTGAI1Arabidopsis thaliana
Y142RAAIHYGSGSI1Arabidopsis thaliana
Y142EFAIHYGTGSL1Gallus gallus
Y269VTRKAYWQVHM3Gallus gallus, Mus musculus, Canis lupus familiaris
Y269VTRKAYWQVHL1Homo sapiens
Y269VRRKAYWEVKF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y269LRRKAYWEVDF1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y269VSQKGYWQFEM1Oryza sativa subsp. japonica
Y269VTQKGYWQFDM1Arabidopsis thaliana
Y269VTQRGYWQFDM1Arabidopsis thaliana


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