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 ITLN1
Gene summary
Basic gene Info.Gene symbolITLN1
Gene nameintelectin 1 (galactofuranose binding)
SynonymsHL-1|HL1|INTL|ITLN|LFR|hIntL|omentin
CytomapUCSC genome browser: 1q21.3
Type of geneprotein-coding
RefGenesNM_017625.2,
DescriptionITLN-1endothelial lectin HL-1galactofuranose-binding lectinintelectin-1intestinal lactoferrin receptor
Modification date20141222
dbXrefs MIM : 609873
HGNC : HGNC
Ensembl : ENSG00000179914
HPRD : 17165
Vega : OTTHUMG00000028604
ProteinUniProt: Q8WWA0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ITLN1
BioGPS: 55600
PathwayNCI Pathway Interaction Database: ITLN1
KEGG: ITLN1
REACTOME: ITLN1
Pathway Commons: ITLN1
ContextiHOP: ITLN1
ligand binding site mutation search in PubMed: ITLN1
UCL Cancer Institute: ITLN1
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 phosphorylation16531507
GO:0046326positive regulation of glucose import16531507


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Ligand binding site mutations for ITLN1
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
D89D89YUCEC1
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 ITLN1
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
D89D89Y-0.25978138
(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 ITLN1 from PDB

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Differential gene expression and gene-gene network for ITLN1
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 ITLN1 and the right PPI network was created from samples without mutations in the LBS of ITLN1. 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 ITLN1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011860Diabetes Mellitus, Type 23Biomarker, GeneticVariation
umls:C0025500Mesothelioma1AlteredExpression, Biomarker
umls:C0242698Ventricular Dysfunction, Left1Therapeutic

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

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Pharmacological information for ITLN1
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 ITLN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)4wmqAD89
CACALCIUM(2+)4wmqBD89
CACALCIUM(2+)4wmyAD89
CACALCIUM(2+)4wmyBD89


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Conservation information for LBS of ITLN1
Multiple alignments for Q8WWA0 in multiple species
LBSAA sequence# speciesSpecies


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