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mutLBSgeneDB |
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| Gene summary for CHP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CHP1 |
| Gene name | calcineurin-like EF-hand protein 1 | |
| Synonyms | CHP|SLC9A1BP|Sid470p|p22|p24 | |
| Cytomap | UCSC genome browser: 15q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_007236.4, | |
| Description | EF-hand calcium-binding domain-containing protein p22SLC9A1 binding proteincalcineurin B homologcalcineurin B homologous protein 1calcineurin B-like proteincalcineurin homologous proteincalcineurin-like EF hand protein 1calcium binding protein P22 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606988 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000187446 | ||
| HPRD : 06101 | ||
| Vega : OTTHUMG00000130233 | ||
| Protein | UniProt: Q99653 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHP1 | |
| BioGPS: 11261 | ||
| Pathway | NCI Pathway Interaction Database: CHP1 | |
| KEGG: CHP1 | ||
| REACTOME: CHP1 | ||
| Pathway Commons: CHP1 | ||
| Context | iHOP: CHP1 | |
| ligand binding site mutation search in PubMed: CHP1 | ||
| UCL Cancer Institute: CHP1 | ||
| 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:0010923 | negative regulation of phosphatase activity | 10593895 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 10593895 | GO:0032417 | positive regulation of sodium:proton antiporter activity | 11350981 | GO:0042308 | negative regulation of protein import into nucleus | 10593895 | GO:0051453 | regulation of intracellular pH | 15035633 | GO:0070885 | negative regulation of calcineurin-NFAT signaling cascade | 10593895 |
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| Ligand binding site mutations for CHP1 |
| 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 | K129,D127 | E128K | SKCM | 1 | S131 | R132G | SKCM | 1 | E175 | F176S | 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 CHP1 |
| 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 | E175 | F176S | -1.7555221 | K129 | E128K | -1.3356845 | D127 | E128K | -1.3356845 | S131 | R132G | -1.2440339 |
| (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 CHP1 from PDB |
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| Differential gene expression and gene-gene network for CHP1 |
| 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 CHP1 |
| 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 CHP1 |
| 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 CHP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2e30 | A | D127 K129 S131 | CA | CALCIUM(2+) | 2e30 | A | E175 |
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| Conservation information for LBS of CHP1 |
| Multiple alignments for Q99653 in multiple species |
| LBS | AA sequence | # species | Species | A170 | QDGDSAISFTE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A170 | QDGDCAISFAE | 1 | Gallus gallus | D123 | AFRLYDLDKDD | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | D123 | AFRLYDLDKDE | 1 | Homo sapiens | D125 | RLYDLDKDDKI | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | D125 | RLYDLDKDEKI | 1 | Homo sapiens | D127 | YDLDKDDKISR | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | D127 | YDLDKDEKISR | 1 | Homo sapiens | D164 | TIQEADQDGDS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D164 | TIQEADQDGDC | 1 | Gallus gallus | D166 | QEADQDGDSAI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D166 | QEADQDGDCAI | 1 | Gallus gallus | D168 | ADQDGDSAISF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D168 | ADQDGDCAISF | 1 | Gallus gallus | E134 | KISRDELLQVL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | E175 | AISFTEFVKVL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E175 | AISFAEFVKVL | 1 | Gallus gallus | G167 | EADQDGDSAIS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G167 | EADQDGDCAIS | 1 | Gallus gallus | I130 | DKDDKISRDEL | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | I130 | DKDEKISRDEL | 1 | Homo sapiens | I171 | DGDSAISFTEF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I171 | DGDCAISFAEF | 1 | Gallus gallus | K126 | LYDLDKDDKIS | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | K126 | LYDLDKDEKIS | 1 | Homo sapiens | K129 | LDKDDKISRDE | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | K129 | LDKDEKISRDE | 1 | Homo sapiens | L124 | FRLYDLDKDDK | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | L124 | FRLYDLDKDEK | 1 | Homo sapiens | Q165 | IQEADQDGDSA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q165 | IQEADQDGDCA | 1 | Gallus gallus | S131 | KDDKISRDELL | 4 | Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | S131 | KDEKISRDELL | 1 | Homo sapiens |
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