mutLBSgeneDB |
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 |
Top |
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 |
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. |
Top |
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. |
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 |
Top |
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) |
Top |
Top |
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 |
Top |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
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 |
Top |
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 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |