|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for NAA50 |
 Gene summary |
| Basic gene Info. | Gene symbol | NAA50 |
| Gene name | N(alpha)-acetyltransferase 50, NatE catalytic subunit | |
| Synonyms | MAK3|NAT13|NAT13P|NAT5|NAT5P|SAN|hNAT5|hSAN | |
| Cytomap | UCSC genome browser: 3q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_025146.2, | |
| Description | Mak3 homologN-acetyltransferase 13 (GCN5-related)N-acetyltransferase 5N-acetyltransferase san homologN-alpha-acetyltransferase 50N-alpha-acetyltransferase 50, NatE catalytic subunitnatE catalytic subunitseparation anxiety | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610834 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000121579 | ||
| HPRD : 14350 | ||
| Vega : OTTHUMG00000159294 | ||
| Protein | UniProt: Q9GZZ1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NAA50 | |
| BioGPS: 80218 | ||
| Pathway | NCI Pathway Interaction Database: NAA50 | |
| KEGG: NAA50 | ||
| REACTOME: NAA50 | ||
| Pathway Commons: NAA50 | ||
| Context | iHOP: NAA50 | |
| ligand binding site mutation search in PubMed: NAA50 | ||
| UCL Cancer Institute: NAA50 | ||
| 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:0043967 | histone H4 acetylation | 19744929 | GO:0071962 | mitotic sister chromatid cohesion, centromeric | 17502424 |
| Top |
| Ligand binding site mutations for NAA50 |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I26 | V25A | COAD | 1 | P28 | P28Q | LUAD | 1 | Q114 | Q114P | STAD | 1 | S119 | S119L | 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. |
| Top |
| Protein structure related information for NAA50 |
| 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 | I26 | V25A | -1.9038698 | P28 | P28Q | -1.3145164 | S119 | S119L | -0.59307062 | Q114 | Q114P | -0.47940095 |
| (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 NAA50 from PDB |
| Top |
| Differential gene expression and gene-gene network for NAA50 |
| 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) |
| Top |
| Top |
| Phenotype information for NAA50 |
| 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 |
| Top |
| Pharmacological information for NAA50 |
| 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 NAA50 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ACO | ACETYL COENZYME *A | 2ob0 | B | I26 P28 Q114 S119 | ACO | ACETYL COENZYME *A | 2ob0 | C | I26 P28 Q114 S119 | COA | COENZYME A | 2psw | A | I26 S119 | COA | COENZYME A | 2psw | B | I26 S119 | COA | COENZYME A | 2psw | C | I26 S119 | COA | COENZYME A | 3tfy | A | I26 S119 | COA | COENZYME A | 3tfy | B | I26 S119 | COA | COENZYME A | 3tfy | C | I26 S119 | COA | COENZYME A | 4x5k | A | I26 S119 | III | Peptide ligand (MET,LEU,GLY,PRO) | 3tfy | A | P28 | III | Peptide ligand (MET,LEU,GLY,PRO) | 3tfy | B | P28 | III | Peptide ligand (MET,LEU,GLY,PRO) | 3tfy | C | P28 | III | Peptide ligand (ACE,MET,MET,ALA,SER) | 4x5k | A | P28 | ACO | ACETYL COENZYME *A | 2ob0 | A | P28 Q114 S119 |
| Top |
| Conservation information for LBS of NAA50 |
| Multiple alignments for Q9GZZ1 in multiple species |
| LBS | AA sequence | # species | Species | A120 | ISNESAIDFYR | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | A120 | ISNESAIDFYQ | 1 | Danio rerio | C79 | IMTLGCLAPYR | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | D122 | NESAIDFYRKF | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | D122 | NESAIDFYQKF | 1 | Danio rerio | F123 | ESAIDFYRKFG | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | F123 | ESAIDFYQKFG | 1 | Danio rerio | F27 | LNQVIFPVSYN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | F35 | SYNDKFYKDVL | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | G78 | YIMTLGCLAPY | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | G87 | PYRRLGIGTKM | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | G89 | RRLGIGTKMLN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | H112 | DNIYLHVQISN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | I26 | RLNQVIFPVSY | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | I88 | YRRLGIGTKML | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | K126 | IDFYRKFGFEI | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | K126 | IDFYQKFGFEI | 1 | Danio rerio | K140 | KKNYYKRIEPA | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | L111 | FDNIYLHVQIS | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | L77 | LYIMTLGCLAP | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | L86 | APYRRLGIGTK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | M75 | KRLYIMTLGCL | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | N117 | HVQISNESAID | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | P28 | NQVIFPVSYND | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | Q114 | IYLHVQISNES | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | R141 | KNYYKRIEPAD | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | R62 | GAVCCRVDHSQ | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | R84 | CLAPYRRLGIG | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | R85 | LAPYRRLGIGT | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | S119 | QISNESAIDFY | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | T76 | RLYIMTLGCLA | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | T90 | RLGIGTKMLNH | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | V113 | NIYLHVQISNE | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | V29 | QVIFPVSYNDK | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | Y124 | SAIDFYRKFGF | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | Y124 | SAIDFYQKFGF | 1 | Danio rerio | Y138 | ETKKNYYKRIE | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | Y139 | TKKNYYKRIEP | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | Y31 | IFPVSYNDKFY | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus | Y73 | NQKRLYIMTLG | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |