mutLBSgeneDB |
Gene summary for NSMCE1 |
Gene summary |
Basic gene Info. | Gene symbol | NSMCE1 |
Gene name | non-SMC element 1 homolog (S. cerevisiae) | |
Synonyms | NSE1 | |
Cytomap | UCSC genome browser: 16p12.1 | |
Type of gene | protein-coding | |
RefGenes | NM_145080.3, | |
Description | non-structural maintenance of chromosomes element 1 homolog | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000169189 | ||
HPRD : 17648 | ||
Vega : OTTHUMG00000131674 | ||
Protein | UniProt: Q8WV22 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_NSMCE1 | |
BioGPS: 197370 | ||
Pathway | NCI Pathway Interaction Database: NSMCE1 | |
KEGG: NSMCE1 | ||
REACTOME: NSMCE1 | ||
Pathway Commons: NSMCE1 | ||
Context | iHOP: NSMCE1 | |
ligand binding site mutation search in PubMed: NSMCE1 | ||
UCL Cancer Institute: NSMCE1 | ||
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 | 20864041 |
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Ligand binding site mutations for NSMCE1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C194 | I193V | STAD | 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 NSMCE1 |
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 | C194 | I193V | -0.75803276 |
(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 NSMCE1 from PDB |
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Differential gene expression and gene-gene network for NSMCE1 |
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 NSMCE1 |
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 NSMCE1 |
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 NSMCE1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3nw0 | A | C194 |
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Conservation information for LBS of NSMCE1 |
Multiple alignments for Q8WV22 in multiple species |
LBS | AA sequence | # species | Species | C191 | DAVKICNICHS | 1 | Homo sapiens | C191 | DAVKVCNICRS | 1 | Bos taurus | C191 | DSVKMCNICHG | 1 | Mus musculus | C191 | DAVKMCNICHS | 1 | Rattus norvegicus | C191 | DMIKVCYVCHN | 1 | Danio rerio | C191 | DVAKICNVCHK | 1 | Xenopus tropicalis | C194 | KICNICHSLLI | 1 | Homo sapiens | C194 | KVCNICRSLLI | 1 | Bos taurus | C194 | KMCNICHGLLI | 1 | Mus musculus | C194 | KMCNICHSLLI | 1 | Rattus norvegicus | C194 | KVCYVCHNIAL | 1 | Danio rerio | C194 | KICNVCHKIAI | 1 | Xenopus tropicalis | C204 | IQGQSCE--TC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C204 | LQCQVCENPSC | 1 | Danio rerio | C204 | IQCQLCE--NC | 1 | Xenopus tropicalis | C207 | CE--TCGIRMH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C207 | CENPSCEIKVH | 1 | Danio rerio | C207 | CE--NCGIPLH | 1 | Xenopus tropicalis | C215 | RMHLPCVAKYF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C215 | KVHLPCVARYF | 1 | Danio rerio | C215 | PLHLQCAGIYF | 1 | Xenopus tropicalis | C228 | NAEPRCPHCND | 1 | Homo sapiens | C228 | SSEPHCPHCND | 1 | Bos taurus | C228 | IPEPHCPHCND | 1 | Mus musculus | C228 | TAEPRCPHCND | 1 | Rattus norvegicus | C228 | RSDPHCPACND | 1 | Danio rerio | C228 | IANPLCPNCKE | 1 | Xenopus tropicalis | C231 | PRCPHCNDYWP | 2 | Homo sapiens, Rattus norvegicus | C231 | PHCPHCNDYWP | 2 | Bos taurus, Mus musculus | C231 | PHCPACNDFWP | 1 | Danio rerio | C231 | PLCPNCKESWP | 1 | Xenopus tropicalis | H212 | CGIRMHLPCVA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H212 | CEIKVHLPCVA | 1 | Danio rerio | H212 | CGIPLHLQCAG | 1 | Xenopus tropicalis | H230 | EPRCPHCNDYW | 2 | Homo sapiens, Rattus norvegicus | H230 | EPHCPHCNDYW | 2 | Bos taurus, Mus musculus | H230 | DPHCPACNDFW | 1 | Danio rerio | H230 | NPLCPNCKESW | 1 | Xenopus tropicalis |
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