mutLBSgeneDB |
Gene summary for RCHY1 |
Gene summary |
Basic gene Info. | Gene symbol | RCHY1 |
Gene name | ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase | |
Synonyms | ARNIP|CHIMP|PIRH2|PRO1996|RNF199|ZCHY|ZNF363 | |
Cytomap | UCSC genome browser: 4q21.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001009922.2, NM_001278536.1,NM_001278537.1,NM_001278538.1,NM_001278539.1, NM_015436.3,NR_037913.1,NR_037914.1,NR_103723.1, NR_103724.1,NR_103725.1,NM_001008925.2, | |
Description | CH-rich interacting match with PLAG1E3 ubiquitin-protein ligase Pirh2RING finger and CHY zinc finger domain-containing protein 1RING finger protein 199androgen-receptor N-terminal-interacting proteinp53-induced protein with a RING-H2 domainzinc fing | |
Modification date | 20141207 | |
dbXrefs | MIM : 607680 | |
HGNC : HGNC | ||
Ensembl : ENSG00000163743 | ||
HPRD : 07607 | ||
Vega : OTTHUMG00000130105 | ||
Protein | UniProt: Q96PM5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RCHY1 | |
BioGPS: 25898 | ||
Pathway | NCI Pathway Interaction Database: RCHY1 | |
KEGG: RCHY1 | ||
REACTOME: RCHY1 | ||
Pathway Commons: RCHY1 | ||
Context | iHOP: RCHY1 | |
ligand binding site mutation search in PubMed: RCHY1 | ||
UCL Cancer Institute: RCHY1 | ||
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:0016567 | protein ubiquitination | 19043414 | GO:0031398 | positive regulation of protein ubiquitination | 19483087 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 19483087 | GO:0042787 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process | 19483087 | GO:0051865 | protein autoubiquitination | 19483087 |
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Ligand binding site mutations for RCHY1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C222 | L221I | COAD | 1 | C222 | L221V | HNSC | 1 | C145 | P146T | PRAD | 1 | C186 | C186Y | STAD | 1 | C183 | R182K | UCEC | 1 | C90 | I89M | UCEC | 1 | T80 | T80A | UCEC | 1 | C65 | K67T | 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 RCHY1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | C222 | L221V | -1.8840014 | C222 | L221I | -1.804132 | C145 | P146T | -1.3645516 | C186 | C186Y | -1.2930538 | T80 | T80A | -0.85427874 | C65 | K67T | -0.85253192 | C90 | I89M | -0.82352972 | C183 | R182K | -0.45406386 |
(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 RCHY1 from PDB |
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Differential gene expression and gene-gene network for RCHY1 |
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 RCHY1 |
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 RCHY1 |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of RCHY1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2k2c | A | C65 T80 | ZN | ZINC(2+) | 2k2c | A | C90 |
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Conservation information for LBS of RCHY1 |
Multiple alignments for Q96PM5 in multiple species |
LBS | AA sequence | # species | Species |
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