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mutLBSgeneDB |
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| Gene summary for KLHL3 |
 Gene summary |
| Basic gene Info. | Gene symbol | KLHL3 |
| Gene name | kelch-like family member 3 | |
| Synonyms | PHA2D | |
| Cytomap | UCSC genome browser: 5q31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001257194.1, NM_001257195.1,NM_017415.2, | |
| Description | kelch-like protein 3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605775 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000146021 | ||
| HPRD : 09011 | ||
| Vega : OTTHUMG00000129155 | ||
| Protein | UniProt: Q9UH77 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KLHL3 | |
| BioGPS: 26249 | ||
| Pathway | NCI Pathway Interaction Database: KLHL3 | |
| KEGG: KLHL3 | ||
| REACTOME: KLHL3 | ||
| Pathway Commons: KLHL3 | ||
| Context | iHOP: KLHL3 | |
| ligand binding site mutation search in PubMed: KLHL3 | ||
| UCL Cancer Institute: KLHL3 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0016567 | protein ubiquitination | 23453970 | GO:0042787 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 23453970 | GO:0070936 | protein K48-linked ubiquitination | 23576762 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R360 | R362W | HNSC | 1 | R528 | A530T | STAD | 1 | R360 | R362Q | STAD | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | R360 | R362Q | -1.2847454 | R360 | R362W | -1.0282783 | R528 | A530T | -0.44830796 |
| (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 |
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| 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) |
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| Phenotype information for KLHL3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1449844 | Pseudohypoaldosteronism, type 2 | 4 | Biomarker, GeneticVariation |
| umls:C3469605 | PSEUDOHYPOALDOSTERONISM, TYPE IID | 2 | GeneticVariation |
| umls:C0033805 | Pseudohypoaldosteronism | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KLHL3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLU,PRO,GLU,GLU,PRO,GLU,ALA,ASP,GLN) | 4ch9 | A | R360 R528 | III | Peptide ligand (GLU,PRO,GLU,GLU,PRO,GLU,ALA,ASP,GLN) | 4ch9 | B | R360 R528 |
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| Conservation information for LBS of KLHL3 |
| Multiple alignments for Q9UH77 in multiple species |
| LBS | AA sequence | # species | Species | F355 | YAVGGFNGSLR | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | F402 | YAVGGFDGSTG | 2 | Homo sapiens, Mus musculus | F402 | YAVGGFDGTTG | 1 | Drosophila melanogaster | G404 | VGGFDGSTGLA | 2 | Homo sapiens, Mus musculus | G404 | VGGFDGTTGLS | 1 | Drosophila melanogaster | G407 | FDGSTGLASVE | 2 | Homo sapiens, Mus musculus | G407 | FDGTTGLSSAE | 1 | Drosophila melanogaster | G451 | VGGYDGASRQC | 2 | Homo sapiens, Mus musculus | G451 | VGGYDGFTRQC | 1 | Drosophila melanogaster | H498 | YATGGHDGPLV | 2 | Homo sapiens, Mus musculus | H498 | YAVGGHDGPMV | 1 | Drosophila melanogaster | R339 | PSRRCRAGVVF | 2 | Homo sapiens, Mus musculus | R339 | PNRRCRSGLSV | 1 | Drosophila melanogaster | R360 | FNGSLRVRTVD | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | R528 | MNMCRRNAGVC | 2 | Homo sapiens, Mus musculus | R528 | MSYCRRNAGVV | 1 | Drosophila melanogaster | S432 | MNTRRSSVGVG | 2 | Homo sapiens, Mus musculus | S432 | MSTRRSSVGVG | 1 | Drosophila melanogaster | S481 | MSTRRSGAGVG | 2 | Homo sapiens, Mus musculus | S481 | MSSRRSGAGVG | 1 | Drosophila melanogaster | Y449 | YAVGGYDGASR | 2 | Homo sapiens, Mus musculus | Y449 | YAVGGYDGFTR | 1 | Drosophila melanogaster | Y577 | STGRSYAGVAV | 2 | Homo sapiens, Mus musculus | Y577 | TIGRSYAGVCM | 1 | Drosophila melanogaster |
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