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 KLHL3
Gene summary
Basic gene Info.Gene symbolKLHL3
Gene namekelch-like family member 3
CytomapUCSC genome browser: 5q31
Type of geneprotein-coding
Descriptionkelch-like protein 3
Modification date20141207
dbXrefs MIM : 605775
Ensembl : ENSG00000146021
HPRD : 09011
Vega : OTTHUMG00000129155
ProteinUniProt: Q9UH77
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_KLHL3
BioGPS: 26249
PathwayNCI Pathway Interaction Database: KLHL3
Pathway Commons: KLHL3
ContextiHOP: KLHL3
ligand binding site mutation search in PubMed: KLHL3
UCL Cancer Institute: KLHL3
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0016567protein ubiquitination23453970
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process23453970
GO:0070936protein K48-linked ubiquitination23576762

Ligand binding site mutations for KLHL3
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for KLHL3
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
(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 KLHL3 from PDB

Differential gene expression and gene-gene network for KLHL3
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 KLHL3 and the right PPI network was created from samples without mutations in the LBS of KLHL3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for KLHL3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1449844Pseudohypoaldosteronism, type 24Biomarker, GeneticVariation

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

Pharmacological information for KLHL3
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 KLHL3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLU,PRO,GLU,GLU,PRO,GLU,ALA,ASP,GLN)4ch9AR360 R528
IIIPeptide ligand (GLU,PRO,GLU,GLU,PRO,GLU,ALA,ASP,GLN)4ch9BR360 R528

Conservation information for LBS of KLHL3
Multiple alignments for Q9UH77 in multiple species
LBSAA sequence# speciesSpecies
F355YAVGGFNGSLR3Homo sapiens, Drosophila melanogaster, Mus musculus
F402YAVGGFDGSTG2Homo sapiens, Mus musculus
F402YAVGGFDGTTG1Drosophila melanogaster
G404VGGFDGSTGLA2Homo sapiens, Mus musculus
G404VGGFDGTTGLS1Drosophila melanogaster
G407FDGSTGLASVE2Homo sapiens, Mus musculus
G407FDGTTGLSSAE1Drosophila melanogaster
G451VGGYDGASRQC2Homo sapiens, Mus musculus
G451VGGYDGFTRQC1Drosophila melanogaster
H498YATGGHDGPLV2Homo sapiens, Mus musculus
H498YAVGGHDGPMV1Drosophila melanogaster
R339PSRRCRAGVVF2Homo sapiens, Mus musculus
R339PNRRCRSGLSV1Drosophila melanogaster
R360FNGSLRVRTVD3Homo sapiens, Drosophila melanogaster, Mus musculus
R528MNMCRRNAGVC2Homo sapiens, Mus musculus
R528MSYCRRNAGVV1Drosophila melanogaster
S432MNTRRSSVGVG2Homo sapiens, Mus musculus
S432MSTRRSSVGVG1Drosophila melanogaster
S481MSTRRSGAGVG2Homo sapiens, Mus musculus
S481MSSRRSGAGVG1Drosophila melanogaster
Y449YAVGGYDGASR2Homo sapiens, Mus musculus
Y449YAVGGYDGFTR1Drosophila melanogaster
Y577STGRSYAGVAV2Homo sapiens, Mus musculus
Y577TIGRSYAGVCM1Drosophila melanogaster

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