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 PANK1
Gene summary
Basic gene Info.Gene symbolPANK1
Gene namepantothenate kinase 1
SynonymsPANK
CytomapUCSC genome browser: 10q23.31
Type of geneprotein-coding
RefGenesNM_138316.3,
NM_148977.2,NM_148978.2,
Descriptionpantothenic acid kinase 1
Modification date20141207
dbXrefs MIM : 606160
HGNC : HGNC
Ensembl : ENSG00000152782
HPRD : 07549
ProteinUniProt: Q8TE04
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PANK1
BioGPS: 53354
PathwayNCI Pathway Interaction Database: PANK1
KEGG: PANK1
REACTOME: PANK1
Pathway Commons: PANK1
ContextiHOP: PANK1
ligand binding site mutation search in PubMed: PANK1
UCL Cancer Institute: PANK1
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


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Ligand binding site mutations for PANK1
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
A492G490RBLCA1
Y479,Y483G481EBLCA1
M501M501IBRCA1
N547L549ICOAD1
R432V433LLUAD1
Y483D482NLUSC1
M501M501TSTAD1
N547N547HUCEC1
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 PANK1
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
M501M501T-1.2683993
N547L549I-1.1346436
Y483D482N-0.913865
M501M501I-0.84204754
A492G490R-0.62173958
R432V433L-0.58450003
Y479G481E-0.47731086
Y483G481E-0.47731086
N547N547H-0.28271987
(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 PANK1 from PDB

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Differential gene expression and gene-gene network for PANK1
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 PANK1 and the right PPI network was created from samples without mutations in the LBS of PANK1. 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 PANK1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for PANK1
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 PANK1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ACOACETYL COENZYME *A2i7nAA492
ACOACETYL COENZYME *A2i7nAR432
ACOACETYL COENZYME *A2i7nBR432
ACOACETYL COENZYME *A3smpAR432
ACOACETYL COENZYME *A3smpBR432 N547
ACOACETYL COENZYME *A2i7nBY479 A492
ACOACETYL COENZYME *A3smpAY479 A492 M501
ACOACETYL COENZYME *A3smpBY479 Y483 A492


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Conservation information for LBS of PANK1
Multiple alignments for Q8TE04 in multiple species
LBSAA sequence# speciesSpecies


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