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 REG1A
Gene summary
Basic gene Info.Gene symbolREG1A
Gene nameregenerating islet-derived 1 alpha
CytomapUCSC genome browser: 2p12
Type of geneprotein-coding
DescriptionREG-1-alphaislet cells regeneration factorislet of langerhans regenerating proteinlithostathine 1 alphalithostathine-1-alphapancreatic stone protein, secretorypancreatic thread proteinprotein-Xregenerating islet-derived protein 1-alpharegeneratin
Modification date20141207
dbXrefs MIM : 167770
Ensembl : ENSG00000115386
HPRD : 01338
Vega : OTTHUMG00000130016
ProteinUniProt: P05451
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_REG1A
BioGPS: 5967
PathwayNCI Pathway Interaction Database: REG1A
Pathway Commons: REG1A
ContextiHOP: REG1A
ligand binding site mutation search in PubMed: REG1A
UCL Cancer Institute: REG1A
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for REG1A
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 REG1A
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 REG1A from PDB

Differential gene expression and gene-gene network for REG1A
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 REG1A and the right PPI network was created from samples without mutations in the LBS of REG1A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for REG1A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for REG1A
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB03721O-Sialic AcidSmall molecule
ExperimentalDB04522PhosphonoserineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of REG1A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of REG1A
Multiple alignments for P05451 in multiple species
LBSAA sequence# speciesSpecies
A25SQGQEAEEDLP2Mus musculus, Rattus norvegicus
A25SQGQEAQTELP1Homo sapiens
E24PSQGQEAEEDL2Mus musculus, Rattus norvegicus
E24QSQGQEAQTEL1Homo sapiens

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