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 C3
Gene summary
Basic gene Info.Gene symbolC3
Gene namecomplement component 3
SynonymsAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
CytomapUCSC genome browser: 19p13.3-p13.2
Type of geneprotein-coding
RefGenesNM_000064.3,
DescriptionC3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement C3complement component C3complement component C3acomplement component C3bepididymis secretory sperm binding p
Modification date20141221
dbXrefs MIM : 120700
HGNC : HGNC
Ensembl : ENSG00000125730
HPRD : 00400
Vega : OTTHUMG00000150335
ProteinUniProt: P01024
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_C3
BioGPS: 718
PathwayNCI Pathway Interaction Database: C3
KEGG: C3
REACTOME: C3
Pathway Commons: C3
ContextiHOP: C3
ligand binding site mutation search in PubMed: C3
UCL Cancer Institute: C3
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:0001934positive regulation of protein phosphorylation15833747
GO:0010575positive regulation vascular endothelial growth factor production16452172
GO:0010828positive regulation of glucose transport15833747
GO:0010866regulation of triglyceride biosynthetic process10432298
GO:0010884positive regulation of lipid storage9555951
GO:0045745positive regulation of G-protein coupled receptor protein signaling pathway15833747


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Ligand binding site mutations for C3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E484E484DBRCA1
C1010S1008PCOAD1
R481R481HGBM1
R508V507LLUAD1
E484E484KSKCM1
M368M368RSKCM1
P369D371YSKCM1
R481A482TSTAD1
C1010S1008LUCEC1
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 C3
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
M368M368R-1.5908209
R481R481H-0.921338
R481A482T-0.76448107
P369D371Y-0.75609766
R508V507L-0.59420571
C1010S1008P-0.5832238
E484E484K-0.41359267
E484E484D-0.37196334
C1010S1008L-0.16514985
(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 C3 from PDB

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Differential gene expression and gene-gene network for C3
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 C3 and the right PPI network was created from samples without mutations in the LBS of C3. 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 C3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0242383Macular Degeneration41Biomarker, GeneticVariation
umls:C0011860Diabetes Mellitus, Type 23Biomarker
umls:C2931788Atypical Hemolytic Uremic Syndrome2Biomarker
umls:C1332655C3 Deficiency2Biomarker, GeneticVariation
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C0021051Immunologic Deficiency Syndromes1Biomarker
umls:C0021655Insulin Resistance1Biomarker
umls:C0030524Paratuberculosis1Biomarker
umls:C0030807Pemphigus1Biomarker
umls:C0034152Purpura, Schoenlein-Henoch1Biomarker

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

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Pharmacological information for C3
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB00028Immune Globulin HumanBiotech
ExperimentalDB01915S-HydroxycysteineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of C3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of C3
Multiple alignments for P01024 in multiple species
LBSAA sequence# speciesSpecies
A1068SSAFAAFVKRA1Homo sapiens
A1068SSAYAAFQYRP1Bos taurus
A1068SSAYAAFNNRP1Mus musculus
A1068ISAYAAFNNRP1Rattus norvegicus
C1010VTPSGCGEQNM2Homo sapiens, Rattus norvegicus
C1010QTPSGCGEQNM1Bos taurus
C1010VTPAGCGEQNM1Mus musculus
D513REPGQDLVVLP2Homo sapiens, Bos taurus
D513REPGQDLVVLS2Mus musculus, Rattus norvegicus
D554DSVWVDVKDSC4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D557WVDVKDSCVGS1Homo sapiens
D557WVDVKDSCMGT1Bos taurus
D557WVDVKDSCIGT1Mus musculus
D557WVDVKDSCVGT1Rattus norvegicus
E484MDRAHEAKIRY1Homo sapiens
E484TDPGEQAKIRY1Bos taurus
E484TDPGHEAKIRY1Mus musculus
E484TDAGQEAKIRY1Rattus norvegicus
E621IWDVVEKADIG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G367KFFKPAMPFDL3Bos taurus, Mus musculus, Rattus norvegicus
G367KYFKPGMPFDL1Homo sapiens
G511QVREPGQDLVV3Homo sapiens, Mus musculus, Rattus norvegicus
G511QYREPGQDLVV1Bos taurus
H414LSINTHPSQKP1Homo sapiens
H414LSINTQNKRDP1Bos taurus
H414LSINTPNSRQP1Mus musculus
H414LSVNTPNNRQP1Rattus norvegicus
I1125EDGPVIHQEMI3Bos taurus, Mus musculus, Rattus norvegicus
I1125EDAPVIHQEMI1Homo sapiens
L476LNVNFHLRTDP2Bos taurus, Mus musculus
L476LNVNFLLRMDR1Homo sapiens
L476LNVNFHLRTDA1Rattus norvegicus
L477NVNFHLRTDPG2Bos taurus, Mus musculus
L477NVNFLLRMDRA1Homo sapiens
L477NVNFHLRTDAG1Rattus norvegicus
L514EPGQDLVVLPL2Homo sapiens, Bos taurus
L514EPGQDLVVLSL2Mus musculus, Rattus norvegicus
M368FFKPAMPFDLM3Bos taurus, Mus musculus, Rattus norvegicus
M368YFKPGMPFDLM1Homo sapiens
M479NFLLRMDRAHE1Homo sapiens
M479NFHLRTDPGEQ1Bos taurus
M479NFHLRTDPGHE1Mus musculus
M479NFHLRTDAGQE1Rattus norvegicus
N412AKLSINTHPSQ1Homo sapiens
N412AKLSINTQNKR1Bos taurus
N412AKLSINTPNSR1Mus musculus
N412AKLSVNTPNNR1Rattus norvegicus
P369FKPAMPFDLMV3Bos taurus, Mus musculus, Rattus norvegicus
P369FKPGMPFDLMV1Homo sapiens
P415SINTHPSQKPL1Homo sapiens
P415SINTQNKRDPL1Bos taurus
P415SINTPNSRQPL1Mus musculus
P415SVNTPNNRQPL1Rattus norvegicus
P527TPEFIPSFRLV2Mus musculus, Rattus norvegicus
P527TTDFIPSFRLV1Homo sapiens
P527TSDFIPSFRLV1Bos taurus
Q1013SGCGEQNMIGM3Homo sapiens, Bos taurus, Rattus norvegicus
Q1013AGCGEQNMIGM1Mus musculus
R478VNFLLRMDRAH1Homo sapiens
R478VNFHLRTDPGE1Bos taurus
R478VNFHLRTDPGH1Mus musculus
R478VNFHLRTDAGQ1Rattus norvegicus
R481LLRMDRAHEAK1Homo sapiens
R481HLRTDPGEQAK1Bos taurus
R481HLRTDPGHEAK1Mus musculus
R481HLRTDAGQEAK1Rattus norvegicus
R508AGRQVREPGQD3Homo sapiens, Mus musculus, Rattus norvegicus
R508VGRQYREPGQD1Bos taurus
S410GVAKLSINTHP1Homo sapiens
S410GVAKLSINTQN1Bos taurus
S410GVAKLSINTPN1Mus musculus
S410GVAKLSVNTPN1Rattus norvegicus
S528PEFIPSFRLVA2Mus musculus, Rattus norvegicus
S528TDFIPSFRLVA1Homo sapiens
S528SDFIPSFRLVA1Bos taurus
T413KLSINTHPSQK1Homo sapiens
T413KLSINTQNKRD1Bos taurus
T413KLSINTPNSRQ1Mus musculus
T413KLSVNTPNNRQ1Rattus norvegicus
V555SVWVDVKDSCV2Homo sapiens, Rattus norvegicus
V555SVWVDVKDSCM1Bos taurus
V555SVWVDVKDSCI1Mus musculus


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