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mutLBSgeneDB |
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| Gene summary for NAGA |
 Gene summary |
| Basic gene Info. | Gene symbol | NAGA |
| Gene name | N-acetylgalactosaminidase, alpha- | |
| Synonyms | D22S674|GALB | |
| Cytomap | UCSC genome browser: 22q11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000262.2, | |
| Description | Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)alpha-N-acetylgalactosaminidasealpha-galactosidase B | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 104170 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198951 | ||
| HPRD : 00076 | ||
| Vega : OTTHUMG00000151276 | ||
| Protein | UniProt: P17050 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NAGA | |
| BioGPS: 4668 | ||
| Pathway | NCI Pathway Interaction Database: NAGA | |
| KEGG: NAGA | ||
| REACTOME: NAGA | ||
| Pathway Commons: NAGA | ||
| Context | iHOP: NAGA | |
| ligand binding site mutation search in PubMed: NAGA | ||
| UCL Cancer Institute: NAGA | ||
| 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:0016052 | carbohydrate catabolic process | 19683538 |
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| Ligand binding site mutations for NAGA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S373 | D375G | COAD | 1 | N177 | L176M | COAD | 1 | L323 | K321T | COAD | 1 | D346 | M347I | HNSC | 1 | V395 | G394V | LUSC | 1 | R181 | R181H | STAD | 1 | C158 | F159L | UCEC | 1 | Y119 | A120V | UCEC | 1 | R181 | R181C | 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 NAGA |
| 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 | S373 | D375G | -1.1194397 | R181 | R181H | -1.0750303 | L323 | K321T | -0.99901676 | R181 | R181C | -0.85118706 | D346 | M347I | -0.78647187 | N177 | L176M | -0.69205213 | Y119 | A120V | -0.63464005 | V395 | G394V | -0.5423091 | C158 | F159L | -0.1237294 |
| (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 NAGA from PDB |
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| Differential gene expression and gene-gene network for NAGA |
| 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 NAGA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1836544 | Schindler Disease, Type I | 7 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C0338473 | Neuroaxonal Dystrophies | 4 | Biomarker |
| umls:C1836522 | KANZAKI DISEASE | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NAGA |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04077 | Glycerol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NAGA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GLA | ALPHA-D-GALACTOSE | 3h55 | A | C158 | GLA | ALPHA-D-GALACTOSE | 3h55 | B | C158 | GLC | ALPHA-D-GLUCOSE | 4do6 | A | L323 D346 | BGC | BETA-D-GLUCOSE | 4do6 | B | L323 D346 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3h55 | A | N177 R181 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 3h55 | B | N177 R181 | GLC | ALPHA-D-GLUCOSE | 4do6 | A | S373 V395 | GLC | ALPHA-D-GLUCOSE | 4do6 | B | S373 V395 | A2G | ALPHA-GALNAC | 3h54 | A | Y119 | A2G | ALPHA-GALNAC | 3h54 | B | Y119 | GLA | ALPHA-D-GALACTOSE | 3h55 | A | Y119 | GLA | ALPHA-D-GALACTOSE | 3h55 | B | Y119 | 7JZ | 2-DEOXY-2,2-DIFLUORO-BETA-D-GALACTOPYRANOSYL-ENZYMEINTERMEDIATE | 3igu | A | Y119 | 7JZ | 2-DEOXY-2,2-DIFLUORO-BETA-D-GALACTOPYRANOSYL-ENZYMEINTERMEDIATE | 3igu | B | Y119 | DJN | 2-ACETAMIDO-1,2-DIDEOXY-D-GALACTO-NOJIRIMYCIN, DGJNAC | N-[(3S,4R,5S,6R)-4,5-DIHYDROXY-6-(HYDROXYMETHYL) PIPERIDIN-3-YL]ACETAMIDE | 4do4 | A | Y119 | DJN | 2-ACETAMIDO-1,2-DIDEOXY-D-GALACTO-NOJIRIMYCIN, DGJNAC | N-[(3S,4R,5S,6R)-4,5-DIHYDROXY-6-(HYDROXYMETHYL) PIPERIDIN-3-YL]ACETAMIDE | 4do4 | B | Y119 | DGJ | 1-DEOXYGALACTONOJIRIMYCIN | 4do5 | A | Y119 | DGJ | 1-DEOXYGALACTONOJIRIMYCIN | 4do5 | B | Y119 |
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| Conservation information for LBS of NAGA |
| Multiple alignments for P17050 in multiple species |
| LBS | AA sequence | # species | Species | A191 | -CSWPAYEGGL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A191 | LCEWGVDDPAL | 1 | Arabidopsis thaliana | C127 | MGKMTCMGYPG | 2 | Mus musculus, Rattus norvegicus | C127 | MGNFTCMGYPG | 1 | Homo sapiens | C127 | AGVFTCEVHPG | 1 | Arabidopsis thaliana | C127 | LGNFTCMGYPG | 1 | Bos taurus | C158 | LKLDGCFSTPE | 1 | Homo sapiens | C158 | LKYDNCFNLGI | 1 | Arabidopsis thaliana | C158 | LKLDGCFSSSR | 1 | Mus musculus | C158 | LKLDGCYSTPK | 1 | Rattus norvegicus | C158 | LKLDGCYSTPQ | 1 | Bos taurus | D156 | DMLKLDGCYST | 2 | Rattus norvegicus, Bos taurus | D156 | DMLKLDGCFST | 1 | Homo sapiens | D156 | DYLKYDNCFNL | 1 | Arabidopsis thaliana | D156 | DMLKLDGCFSS | 1 | Mus musculus | D19 | --LMLENGLLR | 2 | Mus musculus, Rattus norvegicus | D19 | --LMLDNGLLQ | 1 | Homo sapiens | D19 | GRLQLNNGLAR | 1 | Arabidopsis thaliana | D19 | --LVLENGLLR | 1 | Bos taurus | D217 | WRNYKDIQDSW | 2 | Mus musculus, Rattus norvegicus | D217 | WRNYDDIQDSW | 1 | Homo sapiens | D217 | WRTTDDINDTW | 1 | Arabidopsis thaliana | D217 | WRNFDDIQDSW | 1 | Bos taurus | D346 | FSCRTDMPYRY | 1 | Homo sapiens | D346 | WNRCSE-PATI | 1 | Arabidopsis thaliana | D346 | FSRRTDMPFRF | 1 | Mus musculus | D346 | FSRRTDMPYHF | 1 | Rattus norvegicus | D346 | FSRRMDMPYHY | 1 | Bos taurus | D370 | VYEGQNVFTGD | 2 | Mus musculus, Rattus norvegicus | D370 | IYEAQDVYSGD | 1 | Homo sapiens | D370 | SVSVRDLWQHK | 1 | Arabidopsis thaliana | D370 | VYEAQDVYTGD | 1 | Bos taurus | D78 | VYLNIDDCWIG | 3 | Mus musculus, Rattus norvegicus, Bos taurus | D78 | TYLNIDDCWIG | 1 | Homo sapiens | D78 | IHVNIDDCWSN | 1 | Arabidopsis thaliana | D79 | YLNIDDCWIG- | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D79 | HVNIDDCWSNL | 1 | Arabidopsis thaliana | E264 | FGLSFDESRAQ | 2 | Mus musculus, Rattus norvegicus | E264 | FGLSLEQSRAQ | 1 | Homo sapiens | E264 | GGMTYEEYRGH | 1 | Arabidopsis thaliana | E264 | FGLSFEQAQAQ | 1 | Bos taurus | G180 | ALNATGRPIAF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G180 | ALNATGRSIFY | 1 | Arabidopsis thaliana | K154 | KVDMLKLDGCF | 2 | Homo sapiens, Mus musculus | K154 | KVDMLKLDGCY | 2 | Rattus norvegicus, Bos taurus | K154 | GVDYLKYDNCF | 1 | Arabidopsis thaliana | L323 | --SKSHIEVFK | 2 | Mus musculus, Rattus norvegicus | L323 | --EKSLIEVYM | 1 | Homo sapiens | L323 | NGENDCQQVWS | 1 | Arabidopsis thaliana | L323 | --EKSHIEVYL | 1 | Bos taurus | M128 | GNFTCMGYPGT | 2 | Homo sapiens, Bos taurus | M128 | GKMTCMGYPGT | 2 | Mus musculus, Rattus norvegicus | M128 | GVFTCEVHPGS | 1 | Arabidopsis thaliana | N177 | MAAALNATGRP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N177 | MRDALNATGRS | 1 | Arabidopsis thaliana | N20 | -LMLENGLLRT | 2 | Mus musculus, Rattus norvegicus | N20 | -LMLDNGLLQT | 1 | Homo sapiens | N20 | RLQLNNGLART | 1 | Arabidopsis thaliana | N20 | -LVLENGLLRK | 1 | Bos taurus | Q219 | NYKDIQDSWKS | 2 | Mus musculus, Rattus norvegicus | Q219 | NYDDIQDSWWS | 1 | Homo sapiens | Q219 | TTDDINDTWAS | 1 | Arabidopsis thaliana | Q219 | NFDDIQDSWRS | 1 | Bos taurus | R181 | LNATGRPIAFS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R181 | LNATGRSIFYS | 1 | Arabidopsis thaliana | R213 | ICNLWRNYDDI | 1 | Homo sapiens | R213 | VGNSWRTTDDI | 1 | Arabidopsis thaliana | R213 | VCNLWRNYKDI | 1 | Mus musculus | R213 | TCNLWRNYKDI | 1 | Rattus norvegicus | R213 | ICNLWRNFDDI | 1 | Bos taurus | R267 | SFDESRAQMAL | 2 | Mus musculus, Rattus norvegicus | R267 | SLEQSRAQMAL | 1 | Homo sapiens | R267 | TYEEYRGHFSI | 1 | Arabidopsis thaliana | R267 | SFEQAQAQMAL | 1 | Bos taurus | R344 | VFFSCRTDMPY | 1 | Homo sapiens | R344 | ALWNRCSE-PA | 1 | Arabidopsis thaliana | R344 | VFFSRRTDMPF | 1 | Mus musculus | R344 | VFFSRRTDMPY | 1 | Rattus norvegicus | R344 | VFFSRRMDMPY | 1 | Bos taurus | R37 | AWERFRCNINC | 2 | Homo sapiens, Rattus norvegicus | R37 | AWERFRCNIDC | 2 | Mus musculus, Bos taurus | R37 | SWNFFACNIN- | 1 | Arabidopsis thaliana | S188 | AFS-CSWPAYE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S188 | FYSLCEWGVDD | 1 | Arabidopsis thaliana | S373 | AQDVYSGDIIS | 1 | Homo sapiens | S373 | VRDLWQHKDVT | 1 | Arabidopsis thaliana | S373 | GQNVFTGDIFS | 1 | Mus musculus | S373 | GQNVFTGDIIS | 1 | Rattus norvegicus | S373 | AQDVYTGDIIS | 1 | Bos taurus | T345 | FFSCRTDMPYR | 1 | Homo sapiens | T345 | LWNRCSE-PAT | 1 | Arabidopsis thaliana | T345 | FFSRRTDMPFR | 1 | Mus musculus | T345 | FFSRRTDMPYH | 1 | Rattus norvegicus | T345 | FFSRRMDMPYH | 1 | Bos taurus | V395 | INPSGVVMWYL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V395 | VDAHDCHMYVL | 1 | Arabidopsis thaliana | V396 | NPSGVVMWYLY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V396 | DAHDCHMYVLT | 1 | Arabidopsis thaliana | W33 | MGWLAWERFRC | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W33 | MGWNSWNFFAC | 1 | Arabidopsis thaliana | Y119 | LKLGIYEDMGK | 2 | Mus musculus, Rattus norvegicus | Y119 | LKLGIYADMGN | 1 | Homo sapiens | Y119 | LKLGIYSDAGV | 1 | Arabidopsis thaliana | Y119 | LKLGIYEDLGN | 1 | Bos taurus | Y192 | CSWPAYEGGLP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y192 | CEWGVDDPALW | 1 | Arabidopsis thaliana | Y215 | NLWRNYKDIQD | 2 | Mus musculus, Rattus norvegicus | Y215 | NLWRNYDDIQD | 1 | Homo sapiens | Y215 | NSWRTTDDIND | 1 | Arabidopsis thaliana | Y215 | NLWRNFDDIQD | 1 | Bos taurus |
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