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mutLBSgeneDB |
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| Gene summary for SLC9A3R1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SLC9A3R1 |
| Gene name | solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 | |
| Synonyms | EBP50|NHERF|NHERF-1|NHERF1|NPHLOP2 | |
| Cytomap | UCSC genome browser: 17q25.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004252.4, | |
| Description | Na(+)/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 date | 20141207 | |
| dbXrefs | MIM : 604990 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109062 | ||
| HPRD : 05406 | ||
| Vega : OTTHUMG00000178863 | ||
| Protein | UniProt: O14745 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SLC9A3R1 | |
| BioGPS: 9368 | ||
| Pathway | NCI Pathway Interaction Database: SLC9A3R1 | |
| KEGG: SLC9A3R1 | ||
| REACTOME: SLC9A3R1 | ||
| Pathway Commons: SLC9A3R1 | ||
| Context | iHOP: SLC9A3R1 | |
| ligand binding site mutation search in PubMed: SLC9A3R1 | ||
| UCL Cancer Institute: SLC9A3R1 | ||
| 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:0008285 | negative regulation of cell proliferation | 20012548 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 20012548 | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway | 20012548 |
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| Ligand binding site mutations for SLC9A3R1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H72,V76 | Q74K | LUAD | 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 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 |
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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 | V76 | Q74K | -1.1876258 | H72 | Q74K | -1.1876258 |
| (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 |
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| 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) |
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| Phenotype information for SLC9A3R1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2676782 | Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 | 2 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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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 SLC9A3R1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLN,ASP,THR,ARG,LEU) | 2m0u | A | H72 V76 |
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| Conservation information for LBS of SLC9A3R1 |
| Multiple alignments for O14745 in multiple species |
| LBS | AA sequence | # species | Species | A55 | KSGLLAGDRLV | 3 | Mus musculus, Rattus norvegicus, Bos taurus | A55 | KAGLLAGDRLV | 1 | Homo sapiens | A55 | RSGLRAGDRLL | 1 | Gallus gallus | F166 | PNGYGFNLHSD | 3 | Mus musculus, Rattus norvegicus, Bos taurus | F166 | PSGYGFNLHSD | 1 | Homo sapiens | F166 | PNGYGFNLHSE | 1 | Gallus gallus | F26 | PNGYGFHLHGE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F26 | PDGYGFHLHGE | 1 | Gallus gallus | G163 | KKGPNGYGFNL | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | G163 | KKGPSGYGFNL | 1 | Homo sapiens | G165 | GPNGYGFNLHS | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | G165 | GPSGYGFNLHS | 1 | Homo sapiens | G23 | EKGPNGYGFHL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G23 | EKGPDGYGFHL | 1 | Gallus gallus | G25 | GPNGYGFHLHG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G25 | GPDGYGFHLHG | 1 | Gallus gallus | H169 | YGFNLHSDKSK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H169 | YGFNLHSEKSR | 1 | Gallus gallus | H212 | MEGKQHGDVVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H212 | VEGKQHADVVA | 1 | Gallus gallus | H212 | VEGKPHGEVVS | 1 | Bos taurus | H27 | NGYGFHLHGEK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H27 | DGYGFHLHGEK | 1 | Gallus gallus | H72 | VEKETHQQVVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H72 | VERESHQQVVE | 1 | Gallus gallus | H72 | VEKETHQQVVN | 1 | Bos taurus | I219 | DVVSAIRAGGD | 1 | Homo sapiens | I219 | DVVAAIKAGGD | 1 | Gallus gallus | I219 | DVVSAIKGGGD | 1 | Mus musculus | I219 | DVVSAIKAGGD | 1 | Rattus norvegicus | I219 | EVVSAIKAGGD | 1 | Bos taurus | I79 | QVVSRIRAALN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I79 | QVVERIRAAAG | 1 | Gallus gallus | I79 | QVVNRIRAALN | 1 | Bos taurus | L168 | GYGFNLHSDKS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L168 | GYGFNLHSEKS | 1 | Gallus gallus | L28 | GYGFHLHGEKG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | L41 | GQYIRLVEPGS | 2 | Homo sapiens, Bos taurus | L41 | GQFIRLVEPGS | 2 | Mus musculus, Rattus norvegicus | L41 | GQYIRLVEAGS | 1 | Gallus gallus | N167 | NGYGFNLHSDK | 3 | Mus musculus, Rattus norvegicus, Bos taurus | N167 | SGYGFNLHSDK | 1 | Homo sapiens | N167 | NGYGFNLHSEK | 1 | Gallus gallus | N22 | LEKGPNGYGFH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N22 | MEKGPDGYGFH | 1 | Gallus gallus | R180 | PGQFIRAVDPD | 3 | Mus musculus, Rattus norvegicus, Bos taurus | R180 | PGQFIRSVDPD | 1 | Homo sapiens | R180 | PGQYVRAVDPD | 1 | Gallus gallus | R220 | VVSAIKAGGDE | 2 | Rattus norvegicus, Bos taurus | R220 | VVSAIRAGGDE | 1 | Homo sapiens | R220 | VVAAIKAGGDE | 1 | Gallus gallus | R220 | VVSAIKGGGDE | 1 | Mus musculus | R40 | VGQFIRLVEPG | 2 | Mus musculus, Rattus norvegicus | R40 | LGQYIRLVEPG | 1 | Homo sapiens | R40 | PGQYIRLVEAG | 1 | Gallus gallus | R40 | VGQYIRLVEPG | 1 | Bos taurus | R80 | VVSRIRAALNA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R80 | VVERIRAAAGA | 1 | Gallus gallus | R80 | VVNRIRAALNS | 1 | Bos taurus | V216 | QHGDVVSAIRA | 1 | Homo sapiens | V216 | QHADVVAAIKA | 1 | Gallus gallus | V216 | QHGDVVSAIKG | 1 | Mus musculus | V216 | QHGDVVSAIKA | 1 | Rattus norvegicus | V216 | PHGEVVSAIKA | 1 | Bos taurus | V76 | THQQVVSRIRA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V76 | SHQQVVERIRA | 1 | Gallus gallus | V76 | THQQVVNRIRA | 1 | Bos taurus | Y164 | KGPNGYGFNLH | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | Y164 | KGPSGYGFNLH | 1 | Homo sapiens | Y24 | KGPNGYGFHLH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y24 | KGPDGYGFHLH | 1 | Gallus gallus |
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