mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for GNPNAT1
Gene summary
Basic gene Info.Gene symbolGNPNAT1
Gene nameglucosamine-phosphate N-acetyltransferase 1
CytomapUCSC genome browser: 14q22.1
Type of geneprotein-coding
Descriptionglucosamine 6-phosphate N-acetyltransferasephosphoglucosamine acetylasephosphoglucosamine transacetylase
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000100522
HPRD : 17046
Vega : OTTHUMG00000152334
ProteinUniProt: Q96EK6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GNPNAT1
BioGPS: 64841
PathwayNCI Pathway Interaction Database: GNPNAT1
Pathway Commons: GNPNAT1
ContextiHOP: GNPNAT1
ligand binding site mutation search in PubMed: GNPNAT1
UCL Cancer Institute: GNPNAT1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for GNPNAT1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for GNPNAT1
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.
LBSAAchange of nsSNVRelative stability change
(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 GNPNAT1 from PDB

Differential gene expression and gene-gene network for GNPNAT1
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)
* Left PPI network was created from samples with mutations in the LBS of GNPNAT1 and the right PPI network was created from samples without mutations in the LBS of GNPNAT1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for GNPNAT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for GNPNAT1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GNPNAT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of GNPNAT1
Multiple alignments for Q96EK6 in multiple species
LBSAA sequence# speciesSpecies
C157KITLECLPQNV2Homo sapiens, Mus musculus
C157KIILDCDEKNV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C157KVILDCSVENK1Arabidopsis thaliana
C157KISLECVPELL1Caenorhabditis elegans
C157KMSLDCKDKLI1Drosophila melanogaster
D121RGRVEDVVVSD2Homo sapiens, Mus musculus
D121CGHIEDIAVNS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D121AGHIEDVVVDS1Arabidopsis thaliana
D121RGRVEDVVVDT1Caenorhabditis elegans
D121RGRLEDVVVND1Drosophila melanogaster
E120KRGRVEDVVVS2Homo sapiens, Mus musculus
E120LCGHIEDIAVN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E120KAGHIEDVVVD1Arabidopsis thaliana
E120SRGRVEDVVVD1Caenorhabditis elegans
E120VRGRLEDVVVN1Drosophila melanogaster
E156YKITLECLPQN2Homo sapiens, Mus musculus
E156YKIILDCDEKN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E156YKVILDCSVEN1Arabidopsis thaliana
E156YKISLECVPEL1Caenorhabditis elegans
E156YKMSLDCKDKL1Drosophila melanogaster
E175V--SEENYMCR2Homo sapiens, Mus musculus
E175---NAGVEMQI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E175---NKSIQMSK1Arabidopsis thaliana
E175---DDCNFMTQ1Caenorhabditis elegans
E175AIPGNSNSMTI1Drosophila melanogaster
F164PQNVGFYKKFG1Homo sapiens
F164EKNVKFYEKCG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F164VENKVFYEKCG1Arabidopsis thaliana
F164PELLPFYSQFG1Caenorhabditis elegans
F164DKLIKFYESLG1Drosophila melanogaster
F164PQNVGFYKKFD1Mus musculus
G130SDECRGKQLGK2Homo sapiens, Mus musculus
G130NSKYQGQGLGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G130DSRFRGKQLGK1Arabidopsis thaliana
G130DTEMRRQKLGA1Caenorhabditis elegans
G130NDTYRGKQLGK1Drosophila melanogaster
G134RGKQLGKLLLS2Homo sapiens, Mus musculus
G134QGQGLGKLLID1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G134RGKQLGKKVVE1Arabidopsis thaliana
G134RRQKLGAVLLK1Caenorhabditis elegans
G134RGKQLGKLIVV1Drosophila melanogaster
G163LPQNVGFYKKF2Homo sapiens, Mus musculus
G163DEKNVKFYEKC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G163SVENKVFYEKC1Arabidopsis thaliana
G163VPELLPFYSQF1Caenorhabditis elegans
G163KDKLIKFYESL1Drosophila melanogaster
H111EHKFIHSCAKR2Homo sapiens, Mus musculus
H111ERKIIHELGLC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H111EKKFLRNCGKA1Arabidopsis thaliana
H111EMKFIHGAGSR1Caenorhabditis elegans
H111ERKFIHNCAVR1Drosophila melanogaster
I110IEHKFIHSCAK2Homo sapiens, Mus musculus
I110IERKIIHELGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I110IEKKFLRNCGK1Arabidopsis thaliana
I110VEMKFIHGAGS1Caenorhabditis elegans
I110IERKFIHNCAV1Drosophila melanogaster
K108LIIEHKFIHSC2Homo sapiens, Mus musculus
K108IIIERKIIHEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K108VMIEKKFLRNC1Arabidopsis thaliana
K108LVVEMKFIHGA1Caenorhabditis elegans
K108LVIERKFIHNC1Drosophila melanogaster
K131DECRGKQLGKL2Homo sapiens, Mus musculus
K131SKYQGQGLGKL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K131SRFRGKQLGKK1Arabidopsis thaliana
K131TEMRRQKLGAV1Caenorhabditis elegans
K131DTYRGKQLGKL1Drosophila melanogaster
K135GKQLGKLLLST2Homo sapiens, Mus musculus
K135GQGLGKLLIDQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K135GKQLGKKVVEF1Arabidopsis thaliana
K135RQKLGAVLLKT1Caenorhabditis elegans
K135GKQLGKLIVVT1Drosophila melanogaster
K152KLNCYKITLEC2Homo sapiens, Mus musculus
K152DYGCYKIILDC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K152SMGCYKVILDC1Arabidopsis thaliana
K152SLGVYKISLEC1Caenorhabditis elegans
K152ELGCYKMSLDC1Drosophila melanogaster
K167VGFYKKFGYTV1Homo sapiens
K167VKFYEKCGFS-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K167KVFYEKCGMS-1Arabidopsis thaliana
K167LPFYSQFGFQ-1Caenorhabditis elegans
K167IKFYESLGYVA1Drosophila melanogaster
K167VGFYKKFDYTV1Mus musculus
L133CRGKQLGKLLL2Homo sapiens, Mus musculus
L133YQGQGLGKLLI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L133FRGKQLGKKVV1Arabidopsis thaliana
L133MRRQKLGAVLL1Caenorhabditis elegans
L133YRGKQLGKLIV1Drosophila melanogaster
L60KVLGQLTETGV2Homo sapiens, Mus musculus
L60ETLKVLTTVGT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L60ELLGQLTVTGS1Arabidopsis thaliana
L60DLLSQLTSVGN1Caenorhabditis elegans
L60QLLSQLTHVGN1Drosophila melanogaster
N161ECLPQNVGFYK2Homo sapiens, Mus musculus
N161DCDEKNVKFYE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N161DCSVENKVFYE1Arabidopsis thaliana
N161ECVPELLPFYS1Caenorhabditis elegans
N161DCKDKLIKFYE1Drosophila melanogaster
Q132ECRGKQLGKLL2Homo sapiens, Mus musculus
Q132KYQGQGLGKLL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q132RFRGKQLGKKV1Arabidopsis thaliana
Q132EMRRQKLGAVL1Caenorhabditis elegans
Q132TYRGKQLGKLI1Drosophila melanogaster
Q160LECLPQNVGFY2Homo sapiens, Mus musculus
Q160LDCDEKNVKFY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q160LDCSVENKVFY1Arabidopsis thaliana
Q160LECVPELLPFY1Caenorhabditis elegans
Q160LDCKDKLIKFY1Drosophila melanogaster
R129VSDECRGKQLG2Homo sapiens, Mus musculus
R129VNSKYQGQGLG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R129VDSRFRGKQLG1Arabidopsis thaliana
R129VDTEMRRQKLG1Caenorhabditis elegans
R129VNDTYRGKQLG1Drosophila melanogaster
R181NYMCRRFLK--2Homo sapiens, Mus musculus
R181VEMQIRK----1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R181IQMSKYFD---1Arabidopsis thaliana
R181NFMTQRF----1Caenorhabditis elegans
R181NSMTIRYDEGP1Drosophila melanogaster
T61VLGQLTETGVV2Homo sapiens, Mus musculus
T61TLKVLTTVGTI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T61LLGQLTVTGSV1Arabidopsis thaliana
T61LLSQLTSVGNL1Caenorhabditis elegans
T61LLSQLTHVGNV1Drosophila melanogaster
V122GRVEDVVVSDE2Homo sapiens, Mus musculus
V122GHIEDIAVNSK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V122GHIEDVVVDSR1Arabidopsis thaliana
V122GRVEDVVVDTE1Caenorhabditis elegans
V122GRLEDVVVNDT1Drosophila melanogaster
V123RVEDVVVSDEC2Homo sapiens, Mus musculus
V123HIEDIAVNSKY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V123HIEDVVVDSRF1Arabidopsis thaliana
V123RVEDVVVDTEM1Caenorhabditis elegans
V123RLEDVVVNDTY1Drosophila melanogaster
V124VEDVVVSDECR2Homo sapiens, Mus musculus
V124IEDIAVNSKYQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V124IEDVVVDSRFR1Arabidopsis thaliana
V124VEDVVVDTEMR1Caenorhabditis elegans
V124LEDVVVNDTYR1Drosophila melanogaster
Y151KKLNCYKITLE2Homo sapiens, Mus musculus
Y151FDYGCYKIILD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y151KSMGCYKVILD1Arabidopsis thaliana
Y151KSLGVYKISLE1Caenorhabditis elegans
Y151EELGCYKMSLD1Drosophila melanogaster
Y165QNVGFYKKFGY1Homo sapiens
Y165KNVKFYEKCGF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y165ENKVFYEKCGM1Arabidopsis thaliana
Y165ELLPFYSQFGF1Caenorhabditis elegans
Y165KLIKFYESLGY1Drosophila melanogaster
Y165QNVGFYKKFDY1Mus musculus

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