mutLBSgeneDB

mutLBSgeneDB
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 UBA5
Gene summary
Basic gene Info.Gene symbolUBA5
Gene nameubiquitin-like modifier activating enzyme 5
SynonymsTHIFP1|UBE1DC1
CytomapUCSC genome browser: 3q22.1
Type of geneprotein-coding
RefGenesNM_024818.3,
NM_198329.2,
DescriptionUBA5, ubiquitin-activating enzyme E1 homologUFM1-activating enzymeubiquitin-activating enzyme 5ubiquitin-activating enzyme E1 domain-containing protein 1ubiquitin-activating enzyme E1-domain containing 1ubiquitin-like modifier-activating enzyme 5
Modification date20141222
dbXrefs MIM : 610552
HGNC : HGNC
Ensembl : ENSG00000081307
HPRD : 15598
ProteinUniProt: Q9GZZ9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_UBA5
BioGPS: 79876
PathwayNCI Pathway Interaction Database: UBA5
KEGG: UBA5
REACTOME: UBA5
Pathway Commons: UBA5
ContextiHOP: UBA5
ligand binding site mutation search in PubMed: UBA5
UCL Cancer Institute: UBA5
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0034976response to endoplasmic reticulum stress23152784
GO:0071569protein ufmylation15071506


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Ligand binding site mutations for UBA5
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
LBSAAchange of nsSNVCancer type# samples
V207S205YCOAD1
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 UBA5
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
V207S205Y-0.5340529
(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 UBA5 from PDB

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Differential gene expression and gene-gene network for UBA5
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 UBA5 and the right PPI network was created from samples without mutations in the LBS of UBA5. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for UBA5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for UBA5
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of UBA5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ANPAMP-PNP3gucAV207


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Conservation information for LBS of UBA5
Multiple alignments for Q9GZZ9 in multiple species
LBSAA sequence# speciesSpecies
A187VDNFEARMAIN5Drosophila melanogaster, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus
A187VDNFEARMTIN2Homo sapiens, Bos taurus
A187VDNYEARMAVN1Arabidopsis thaliana
A187VDNYEARMVVN1Oryza sativa subsp. japonica
A187VDNFEARMAVN1Caenorhabditis elegans
C181DLVLSCVDNFE8Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
C181DLVLSCVDNYE2Arabidopsis thaliana, Oryza sativa subsp. japonica
C226PGESACFACAP5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
C226PGETACFACAP3Arabidopsis thaliana, Oryza sativa subsp. japonica, Xenopus tropicalis
C226PGKTACFACVP1Caenorhabditis elegans
C226PGDTACFACAP1Drosophila melanogaster
C229SACFACAPPLV5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
C229TACFACAPPLV4Arabidopsis thaliana, Oryza sativa subsp. japonica, Drosophila melanogaster, Xenopus tropicalis
C229TACFACVPPLV1Caenorhabditis elegans
C303KPNPQCDDRNC3Homo sapiens, Drosophila melanogaster, Bos taurus
C303KPNPQCDDKNC2Mus musculus, Rattus norvegicus
C303RPNPQCSNVAC1Arabidopsis thaliana
C303KPNPQCSNPAC1Oryza sativa subsp. japonica
C303KPNPYCDDSHC1Caenorhabditis elegans
C303KPNPQCGDKYC1Xenopus tropicalis
C303KPNPQCSDQNC1Gallus gallus
C308CDDKNCRKQQE2Mus musculus, Rattus norvegicus
C308CDDRNCRKQQE1Homo sapiens
C308CSNVACLERQK1Arabidopsis thaliana
C308CSNPACVQRQK1Oryza sativa subsp. japonica
C308CDDSHCLQRQK1Caenorhabditis elegans
C308CDDRNCLVRQK1Drosophila melanogaster
C308CGDKYCRKQQE1Xenopus tropicalis
C308CSDQNCRKQQE1Gallus gallus
C308CDDRNCRKQQK1Bos taurus
D104KLLLFDYDKVE6Homo sapiens, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
D104RLLLYDYDTVE2Arabidopsis thaliana, Oryza sativa subsp. japonica
D104KLILFDYDKVE2Caenorhabditis elegans, Drosophila melanogaster
D183VLSCVDNFEAR8Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
D183VLSCVDNYEAR2Arabidopsis thaliana, Oryza sativa subsp. japonica
G80AVAIVGVGGVG4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
G80TVAVVGVGGVG2Caenorhabditis elegans, Xenopus tropicalis
G80TVAIVGVGGVG2Gallus gallus, Bos taurus
G80SVAIVGIGGVG1Arabidopsis thaliana
G80SIAIVGIGGVG1Oryza sativa subsp. japonica
G82AIVGVGGVGSV6Homo sapiens, Drosophila melanogaster, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G82AIVGIGGVGSV2Arabidopsis thaliana, Oryza sativa subsp. japonica
G82AVVGVGGVGSV2Caenorhabditis elegans, Xenopus tropicalis
G83IVGVGGVGSVT6Homo sapiens, Drosophila melanogaster, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G83IVGIGGVGSVA2Arabidopsis thaliana, Oryza sativa subsp. japonica
G83VVGVGGVGSVV1Caenorhabditis elegans
G83VVGVGGVGSVT1Xenopus tropicalis
I151VHNYNITTVEN2Homo sapiens, Bos taurus
I151VHNYNITTLDN2Xenopus tropicalis, Gallus gallus
I151VHNYNITTVEH2Mus musculus, Rattus norvegicus
I151SFTMNITTVQG1Arabidopsis thaliana
I151SYSLNITTVKG1Oryza sativa subsp. japonica
I151VHNFNITTMDN1Caenorhabditis elegans
I151THNYNITTVEN1Drosophila melanogaster
K127QAGLSKVQAAE3Homo sapiens, Gallus gallus, Bos taurus
K127QVGMTKTDAAV2Arabidopsis thaliana, Oryza sativa subsp. japonica
K127QAGLSKVEAAR1Caenorhabditis elegans
K127QAGLSKVAAAA1Drosophila melanogaster
K127QAGLSKVEAAE1Xenopus tropicalis
K127QAGLSKVHAAE1Mus musculus
K127QAGMSKVQAAE1Rattus norvegicus
N150EVHNYNITTVE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N150EVHNYNITTLD2Xenopus tropicalis, Gallus gallus
N150ESFTMNITTVQ1Arabidopsis thaliana
N150ESYSLNITTVK1Oryza sativa subsp. japonica
N150EVHNFNITTMD1Caenorhabditis elegans
N150ETHNYNITTVE1Drosophila melanogaster
N184LSCVDNFEARM8Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
N184LSCVDNYEARM2Arabidopsis thaliana, Oryza sativa subsp. japonica
T152HNYNITTVENF3Homo sapiens, Drosophila melanogaster, Bos taurus
T152HNYNITTLDNF2Xenopus tropicalis, Gallus gallus
T152HNYNITTVEHF2Mus musculus, Rattus norvegicus
T152FTMNITTVQGF1Arabidopsis thaliana
T152YSLNITTVKGF1Oryza sativa subsp. japonica
T152HNFNITTMDNF1Caenorhabditis elegans
V182LVLSCVDNFEA8Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
V182LVLSCVDNYEA2Arabidopsis thaliana, Oryza sativa subsp. japonica
V207WMESGVSENAV7Homo sapiens, Caenorhabditis elegans, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
V207WMESGVSEDAV2Arabidopsis thaliana, Oryza sativa subsp. japonica
V207WFESGVSENAV1Drosophila melanogaster
V84VGVGGVGSVTA7Homo sapiens, Drosophila melanogaster, Xenopus tropicalis, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
V84VGIGGVGSVAA2Arabidopsis thaliana, Oryza sativa subsp. japonica
V84VGVGGVGSVVA1Caenorhabditis elegans
Y105LLLFDYDKVEL5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Y105LLLYDYDTVEL2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y105LILFDYDKVEI1Caenorhabditis elegans
Y105LILFDYDKVEL1Drosophila melanogaster
Y105LLLFDYDKVEM1Xenopus tropicalis


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