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mutLBSgeneDB |
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| Gene summary for PANK3 |
 Gene summary |
| Basic gene Info. | Gene symbol | PANK3 |
| Gene name | pantothenate kinase 3 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 5q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024594.3, | |
| Description | hPanK3pantothenic acid kinase 3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606161 | |
| HGNC : HGNC | ||
| HPRD : 07312 | ||
| Protein | UniProt: Q9H999 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PANK3 | |
| BioGPS: 79646 | ||
| Pathway | NCI Pathway Interaction Database: PANK3 | |
| KEGG: PANK3 | ||
| REACTOME: PANK3 | ||
| Pathway Commons: PANK3 | ||
| Context | iHOP: PANK3 | |
| ligand binding site mutation search in PubMed: PANK3 | ||
| UCL Cancer Institute: PANK3 | ||
| 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 |
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| Ligand binding site mutations for PANK3 |
| 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 | F231 | E233G | COAD | 2 | F231 | E229K | BLCA | 1 | R325 | V326A | COAD | 1 | N299 | N299S | LUAD | 1 | G216 | G216V | LUAD | 1 | G116 | A118G | LUAD | 1 | G210 | G210W | LUAD | 1 | F231 | E233D | OV | 1 | I253 | R251S | SKCM | 1 | R325 | R325H | UCEC | 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 PANK3 |
| 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 | G210 | G210W | 0.31240128 | R325 | R325H | -1.4579262 | I253 | R251S | -1.2409573 | R325 | V326A | -1.1984905 | G116 | A118G | -1.0479467 | F231 | E229K | -0.76186687 | N299 | N299S | -0.74696643 | F231 | E233G | -0.73161804 | F231 | E233D | -0.50322529 | G216 | G216V | -0.058510589 |
| (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 PANK3 from PDB |
| PDB ID | PDB title | PDB structure | 2I7P | Crystal structure of human PANK3 in complex with AcCoA |  |
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| Differential gene expression and gene-gene network for PANK3 |
| 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 PANK3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PANK3 |
| 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 PANK3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ACO | ACETYL COENZYME *A | 3mk6 | A | G116 R325 | ACO | ACETYL COENZYME *A | 3mk6 | B | G116 R325 | ACO | ACETYL COENZYME *A | 3mk6 | C | G116 R325 | ACO | ACETYL COENZYME *A | 3mk6 | D | G116 R325 | RNH | N-HEPTYLPANTOTHENAMIDE | 3sms | A | G210 | ADP | ADP | 3sms | A | G216 F231 R325 | ACO | ACETYL COENZYME *A | 2i7p | B | I253 N299 | ACO | ACETYL COENZYME *A | 2i7p | C | I253 N299 | ACO | ACETYL COENZYME *A | 3mk6 | A | I253 N299 | ACO | ACETYL COENZYME *A | 3mk6 | B | I253 N299 | ACO | ACETYL COENZYME *A | 3mk6 | C | I253 N299 | ACO | ACETYL COENZYME *A | 3mk6 | D | I253 N299 | ACO | ACETYL COENZYME *A | 2i7p | A | N299 | ACO | ACETYL COENZYME *A | 2i7p | D | N299 |
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| Conservation information for LBS of PANK3 |
| Multiple alignments for Q9H999 in multiple species |
| LBS | AA sequence | # species | Species | A267 | GLPGWAVASSF | 3 | Homo sapiens, Mus musculus, Bos taurus | A269 | PGWAVASSFGN | 3 | Homo sapiens, Mus musculus, Bos taurus | D17 | PWFGMDIGGTL | 3 | Homo sapiens, Mus musculus, Bos taurus | E138 | LHKLDELDCLV | 3 | Homo sapiens, Mus musculus, Bos taurus | F231 | TGCESFEEALE | 3 | Homo sapiens, Mus musculus, Bos taurus | F323 | VFVGNFLRVNT | 3 | Homo sapiens, Mus musculus, Bos taurus | G115 | VLCATGGGAYK | 2 | Homo sapiens, Bos taurus | G115 | VLSATGGGAYK | 1 | Mus musculus | G116 | LCATGGGAYKF | 2 | Homo sapiens, Bos taurus | G116 | LSATGGGAYKF | 1 | Mus musculus | G19 | FGMDIGGTLVK | 3 | Homo sapiens, Mus musculus, Bos taurus | G191 | LVVNIGSGVSI | 3 | Homo sapiens, Mus musculus, Bos taurus | G193 | VNIGSGVSILA | 3 | Homo sapiens, Mus musculus, Bos taurus | G20 | GMDIGGTLVKL | 3 | Homo sapiens, Mus musculus, Bos taurus | G210 | YKRVTGTSLGG | 3 | Homo sapiens, Mus musculus, Bos taurus | G215 | GTSLGGGTFLG | 3 | Homo sapiens, Mus musculus, Bos taurus | G216 | TSLGGGTFLGL | 3 | Homo sapiens, Mus musculus, Bos taurus | I253 | KLVRDIYGGDY | 2 | Homo sapiens, Bos taurus | I253 | RLVRDIYGGDY | 1 | Mus musculus | K135 | NLHLHKLDELD | 3 | Homo sapiens, Mus musculus, Bos taurus | K24 | GGTLVKLSYFE | 3 | Homo sapiens, Mus musculus, Bos taurus | L22 | DIGGTLVKLSY | 3 | Homo sapiens, Mus musculus, Bos taurus | L263 | YERFGLPGWAV | 3 | Homo sapiens, Mus musculus, Bos taurus | N299 | LVTITNNIGSV | 2 | Homo sapiens, Mus musculus | N299 | LVTITNNIGSI | 1 | Bos taurus | N322 | VVFVGNFLRVN | 3 | Homo sapiens, Mus musculus, Bos taurus | R207 | KDNYKRVTGTS | 3 | Homo sapiens, Mus musculus, Bos taurus | R325 | VGNFLRVNTLS | 3 | Homo sapiens, Mus musculus, Bos taurus | S192 | VVNIGSGVSIL | 3 | Homo sapiens, Mus musculus, Bos taurus | S195 | IGSGVSILAVH | 3 | Homo sapiens, Mus musculus, Bos taurus | T21 | MDIGGTLVKLS | 3 | Homo sapiens, Mus musculus, Bos taurus | T211 | KRVTGTSLGGG | 3 | Homo sapiens, Mus musculus, Bos taurus | V194 | NIGSGVSILAV | 3 | Homo sapiens, Mus musculus, Bos taurus | V268 | LPGWAVASSFG | 3 | Homo sapiens, Mus musculus, Bos taurus | W341 | YALDYWSKGQL | 3 | Homo sapiens, Mus musculus, Bos taurus | Y254 | LVRDIYGGDYE | 3 | Homo sapiens, Mus musculus, Bos taurus | Y336 | MKLLAYALDYW | 3 | Homo sapiens, Mus musculus, Bos taurus | Y340 | AYALDYWSKGQ | 3 | Homo sapiens, Mus musculus, Bos taurus |
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