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 HSPD1
Gene summary
Basic gene Info.Gene symbolHSPD1
Gene nameheat shock 60kDa protein 1 (chaperonin)
SynonymsCPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13
CytomapUCSC genome browser: 2q33.1
Type of geneprotein-coding
RefGenesNM_002156.4,
NM_199440.1,
Description60 kDa chaperonin60 kDa heat shock protein, mitochondrialP60 lymphocyte proteinchaperonin 60heat shock protein 65mitochondrial matrix protein P1short heat shock protein 60 Hsp60s1
Modification date20141207
dbXrefs MIM : 118190
HGNC : HGNC
Ensembl : ENSG00000144381
HPRD : 00318
Vega : OTTHUMG00000154463
ProteinUniProt: P10809
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HSPD1
BioGPS: 3329
PathwayNCI Pathway Interaction Database: HSPD1
KEGG: HSPD1
REACTOME: HSPD1
Pathway Commons: HSPD1
ContextiHOP: HSPD1
ligand binding site mutation search in PubMed: HSPD1
UCL Cancer Institute: HSPD1
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
GO:0002368B cell cytokine production16148103
GO:0002755MyD88-dependent toll-like receptor signaling pathway16148103
GO:0002842positive regulation of T cell mediated immune response to tumor cell10663613
GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process17823127
GO:0006986response to unfolded protein11050098
GO:0032727positive regulation of interferon-alpha production17164250
GO:0032729positive regulation of interferon-gamma production17164250
GO:0032733positive regulation of interleukin-10 production16148103
GO:0032735positive regulation of interleukin-12 production17164250
GO:0032755positive regulation of interleukin-6 production16148103
GO:0042026protein refolding11050098
GO:0042100B cell proliferation16148103
GO:0042110T cell activation15371451
GO:0042113B cell activation16148103
GO:0043032positive regulation of macrophage activation17164250
GO:0048291isotype switching to IgG isotypes16148103
GO:0050870positive regulation of T cell activation16148103


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Ligand binding site mutations for HSPD1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
P57K58NOV1
T115T117ASTAD1
D504D504NSTAD1
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 HSPD1
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
T115T117A-0.82191149
D504D504N-0.17045703
P57K58N-0.042308412
(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 HSPD1 from PDB

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Differential gene expression and gene-gene network for HSPD1
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 HSPD1 and the right PPI network was created from samples without mutations in the LBS of HSPD1. 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 HSPD1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0019693HIV Infections4AlteredExpression, Biomarker, GeneticVariation
umls:C0948089Acute Coronary Syndrome3Biomarker
umls:C0001418Adenocarcinoma3Biomarker
umls:C0376618Endotoxemia2Biomarker
umls:C0038356Stomach Neoplasms2Biomarker
umls:C2677109Leukodystrophy, Hypomyelinating, 41Biomarker, GeneticVariation
umls:C0007134Carcinoma, Renal Cell1Biomarker
umls:C0878544Cardiomyopathies1Therapeutic
umls:C0007194Cardiomyopathy, Hypertrophic1Biomarker
umls:C0740392Infarction, Middle Cerebral Artery1Biomarker

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

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Pharmacological information for HSPD1
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 HSPD1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of HSPD1
Multiple alignments for P10809 in multiple species
LBSAA sequence# speciesSpecies
A505EVGYDAMLGDF2Mus musculus, Rattus norvegicus
A505EVGYDAMAGDF1Homo sapiens
A505SYGYDALNGKF1Caenorhabditis elegans
A505DYGYDALKGEY1Drosophila melanogaster
A505EVGYDAMLGEF1Gallus gallus
A505DLGYDAAKGEY1Arabidopsis thaliana
A505AKGYDASKSEY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A505NIGYDIAKDRF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D111NEEAGDGTTTA5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
D111NEEAGDGTTCA1Caenorhabditis elegans
D111NDVAGDGTTCA1Arabidopsis thaliana
D111NEAAGDGTTSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D111NEVAGDGTTTA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D504SEVGYDAMLGD2Mus musculus, Rattus norvegicus
D504SEVGYDAMAGD1Homo sapiens
D504TSYGYDALNGK1Caenorhabditis elegans
D504GDYGYDALKGE1Drosophila melanogaster
D504SEVGYDAMLGE1Gallus gallus
D504PDLGYDAAKGE1Arabidopsis thaliana
D504FAKGYDASKSE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D504FNIGYDIAKDR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D520EKGIIDPTKVV5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
D520EAGIIDPTKVV1Caenorhabditis elegans
D520KAGIIDPLKVI1Arabidopsis thaliana
D520ATGIIDPFKVV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D520EIGVLDPLKVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G112EEAGDGTTTAT5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
G112EEAGDGTTCAT1Caenorhabditis elegans
G112DVAGDGTTCAT1Arabidopsis thaliana
G112EAAGDGTTSAT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G112EVAGDGTTTAT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G439EGIVLGGGCAL3Homo sapiens, Mus musculus, Rattus norvegicus
G439EGIVPGGGVAL1Caenorhabditis elegans
G439EGIVPGGGTAL1Drosophila melanogaster
G439EGIVPGGGCAL1Gallus gallus
G439EGILPGGGVAL1Arabidopsis thaliana
G439EGILPGGGTAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G439EGVLPGAGTSF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G440GIVLGGGCALL3Homo sapiens, Mus musculus, Rattus norvegicus
G440GIVPGGGVALL1Caenorhabditis elegans
G440GIVPGGGTALL1Drosophila melanogaster
G440GIVPGGGCALL1Gallus gallus
G440GILPGGGVALL1Arabidopsis thaliana
G440GILPGGGTALV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G440GVLPGAGTSFV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G56VAVTMGPKGRT4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G56VSVTMGPKGRN1Caenorhabditis elegans
G56VAVTMGPKGRN1Drosophila melanogaster
G56VKVTMGPKGRN1Arabidopsis thaliana
G56VAATLGPKGRN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G56VSVTLGPKGRN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I479IPAMTIAKNAG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
I479QPIATIVKNAG1Caenorhabditis elegans
I479MPCMTIAKNAG1Drosophila melanogaster
I479TPVYTIASNAG1Arabidopsis thaliana
I479RPAKQIIENAG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I479RPAQTILENAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I518MVEKGIIDPTK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
I518MFEAGIIDPTK1Caenorhabditis elegans
I518LIEKGIIDPTK1Drosophila melanogaster
I518MVKAGIIDPLK1Arabidopsis thaliana
I518MLATGIIDPFK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I518LNEIGVLDPLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K75SPKVTKDGVTV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K75SPKITKDGVTV3Caenorhabditis elegans, Drosophila melanogaster, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K75APKVTKDGVTV1Arabidopsis thaliana
K75PPKITKDGVTV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M506VGYDAMLGDFV2Mus musculus, Rattus norvegicus
M506VGYDAMAGDFV1Homo sapiens
M506YGYDALNGKFV1Caenorhabditis elegans
M506YGYDALKGEYG1Drosophila melanogaster
M506VGYDAMLGEFV1Gallus gallus
M506LGYDAAKGEYV1Arabidopsis thaliana
M506KGYDASKSEYT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M506IGYDIAKDRFV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M55AVAVTMGPKGR5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
M55AVSVTMGPKGR1Caenorhabditis elegans
M55AVKVTMGPKGR1Arabidopsis thaliana
M55AVAATLGPKGR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M55AVSVTLGPKGR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P57AVTMGPKGRTV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
P57SVTMGPKGRNV1Caenorhabditis elegans
P57AVTMGPKGRNV1Drosophila melanogaster
P57KVTMGPKGRNV1Arabidopsis thaliana
P57AATLGPKGRNV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P57SVTLGPKGRNV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S175QVATISANGDK3Homo sapiens, Mus musculus, Rattus norvegicus
S175QVATISANGDT2Caenorhabditis elegans, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S175QVATISANGDQ2Drosophila melanogaster, Gallus gallus
S175QVGTISANGER1Arabidopsis thaliana
S175QVATISANGDS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T113EAGDGTTTATV5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
T113EAGDGTTCATV1Caenorhabditis elegans
T113VAGDGTTCATV1Arabidopsis thaliana
T113AAGDGTTSATV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T113VAGDGTTTATV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T114AGDGTTTATVL6Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T114AGDGTTCATVL2Caenorhabditis elegans, Arabidopsis thaliana
T114AGDGTTSATVL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T115GDGTTTATVLA5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
T115GDGTTCATVLA1Caenorhabditis elegans
T115GDGTTCATVLT1Arabidopsis thaliana
T115GDGTTSATVLG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T115GDGTTTATVLT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T54DAVAVTMGPKG5Homo sapiens, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus
T54DAVSVTMGPKG1Caenorhabditis elegans
T54DAVKVTMGPKG1Arabidopsis thaliana
T54EAVAATLGPKG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T54RAVSVTLGPKG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y503SSEVGYDAMLG3Gallus gallus, Mus musculus, Rattus norvegicus
Y503SSEVGYDAMAG1Homo sapiens
Y503NTSYGYDALNG1Caenorhabditis elegans
Y503AGDYGYDALKG1Drosophila melanogaster
Y503NPDLGYDAAKG1Arabidopsis thaliana
Y503DFAKGYDASKS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y503EFNIGYDIAKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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