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 SLC9A3R1
Gene summary
Basic gene Info.Gene symbolSLC9A3R1
Gene namesolute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
CytomapUCSC genome browser: 17q25.1
Type of geneprotein-coding
DescriptionNa(+)/H(+) exchange regulatory cofactor NHE-RF1Na+/H+ exchange regulatory co-factorezrin-radixin-moesin binding phosphoprotein-50ezrin-radixin-moesin-binding phosphoprotein 50regulatory cofactor of Na(+)/H(+) exchangersolute carrier family 9 (sodium/
Modification date20141207
dbXrefs MIM : 604990
Ensembl : ENSG00000109062
HPRD : 05406
Vega : OTTHUMG00000178863
ProteinUniProt: O14745
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SLC9A3R1
BioGPS: 9368
PathwayNCI Pathway Interaction Database: SLC9A3R1
Pathway Commons: SLC9A3R1
ContextiHOP: SLC9A3R1
ligand binding site mutation search in PubMed: SLC9A3R1
UCL Cancer Institute: SLC9A3R1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008285negative regulation of cell proliferation20012548
GO:0070373negative regulation of ERK1 and ERK2 cascade20012548
GO:2001244positive regulation of intrinsic apoptotic signaling pathway20012548

Ligand binding site mutations for SLC9A3R1

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 SLC9A3R1
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 SLC9A3R1 from PDB

Differential gene expression and gene-gene network for SLC9A3R1
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 SLC9A3R1 and the right PPI network was created from samples without mutations in the LBS of SLC9A3R1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SLC9A3R1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2676782Nephrolithiasis-Osteoporosis, Hypophosphatemic, 22Biomarker, GeneticVariation

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

Pharmacological information for SLC9A3R1
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SLC9A3R1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLN,ASP,THR,ARG,LEU)2m0uAH72 V76

Conservation information for LBS of SLC9A3R1
Multiple alignments for O14745 in multiple species
LBSAA sequence# speciesSpecies
A55KSGLLAGDRLV3Mus musculus, Rattus norvegicus, Bos taurus
A55KAGLLAGDRLV1Homo sapiens
A55RSGLRAGDRLL1Gallus gallus
F166PNGYGFNLHSD3Mus musculus, Rattus norvegicus, Bos taurus
F166PSGYGFNLHSD1Homo sapiens
F166PNGYGFNLHSE1Gallus gallus
F26PNGYGFHLHGE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F26PDGYGFHLHGE1Gallus gallus
G163KKGPNGYGFNL4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G163KKGPSGYGFNL1Homo sapiens
G165GPNGYGFNLHS4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G165GPSGYGFNLHS1Homo sapiens
G23EKGPNGYGFHL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G23EKGPDGYGFHL1Gallus gallus
G25GPNGYGFHLHG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G25GPDGYGFHLHG1Gallus gallus
H169YGFNLHSDKSK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H169YGFNLHSEKSR1Gallus gallus
H212MEGKQHGDVVS3Homo sapiens, Mus musculus, Rattus norvegicus
H212VEGKQHADVVA1Gallus gallus
H212VEGKPHGEVVS1Bos taurus
H27NGYGFHLHGEK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H27DGYGFHLHGEK1Gallus gallus
H72VEKETHQQVVS3Homo sapiens, Mus musculus, Rattus norvegicus
H72VERESHQQVVE1Gallus gallus
I219DVVSAIRAGGD1Homo sapiens
I219DVVAAIKAGGD1Gallus gallus
I219DVVSAIKGGGD1Mus musculus
I219DVVSAIKAGGD1Rattus norvegicus
I219EVVSAIKAGGD1Bos taurus
I79QVVSRIRAALN3Homo sapiens, Mus musculus, Rattus norvegicus
I79QVVERIRAAAG1Gallus gallus
L168GYGFNLHSDKS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L168GYGFNLHSEKS1Gallus gallus
L28GYGFHLHGEKG5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
L41GQYIRLVEPGS2Homo sapiens, Bos taurus
L41GQFIRLVEPGS2Mus musculus, Rattus norvegicus
L41GQYIRLVEAGS1Gallus gallus
N167NGYGFNLHSDK3Mus musculus, Rattus norvegicus, Bos taurus
N167SGYGFNLHSDK1Homo sapiens
N167NGYGFNLHSEK1Gallus gallus
N22LEKGPNGYGFH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N22MEKGPDGYGFH1Gallus gallus
R180PGQFIRAVDPD3Mus musculus, Rattus norvegicus, Bos taurus
R180PGQFIRSVDPD1Homo sapiens
R180PGQYVRAVDPD1Gallus gallus
R220VVSAIKAGGDE2Rattus norvegicus, Bos taurus
R220VVSAIRAGGDE1Homo sapiens
R220VVAAIKAGGDE1Gallus gallus
R220VVSAIKGGGDE1Mus musculus
R40VGQFIRLVEPG2Mus musculus, Rattus norvegicus
R40LGQYIRLVEPG1Homo sapiens
R40PGQYIRLVEAG1Gallus gallus
R80VVSRIRAALNA3Homo sapiens, Mus musculus, Rattus norvegicus
R80VVERIRAAAGA1Gallus gallus
V216QHGDVVSAIRA1Homo sapiens
V216QHADVVAAIKA1Gallus gallus
V216QHGDVVSAIKG1Mus musculus
V216QHGDVVSAIKA1Rattus norvegicus
V216PHGEVVSAIKA1Bos taurus
V76THQQVVSRIRA3Homo sapiens, Mus musculus, Rattus norvegicus
V76SHQQVVERIRA1Gallus gallus
Y164KGPNGYGFNLH4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
Y164KGPSGYGFNLH1Homo sapiens
Y24KGPNGYGFHLH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y24KGPDGYGFHLH1Gallus gallus

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