mutLBSgeneDB |
Gene summary for ITLN1 |
Gene summary |
Basic gene Info. | Gene symbol | ITLN1 |
Gene name | intelectin 1 (galactofuranose binding) | |
Synonyms | HL-1|HL1|INTL|ITLN|LFR|hIntL|omentin | |
Cytomap | UCSC genome browser: 1q21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_017625.2, | |
Description | ITLN-1endothelial lectin HL-1galactofuranose-binding lectinintelectin-1intestinal lactoferrin receptor | |
Modification date | 20141222 | |
dbXrefs | MIM : 609873 | |
HGNC : HGNC | ||
Ensembl : ENSG00000179914 | ||
HPRD : 17165 | ||
Vega : OTTHUMG00000028604 | ||
Protein | UniProt: Q8WWA0 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ITLN1 | |
BioGPS: 55600 | ||
Pathway | NCI Pathway Interaction Database: ITLN1 | |
KEGG: ITLN1 | ||
REACTOME: ITLN1 | ||
Pathway Commons: ITLN1 | ||
Context | iHOP: ITLN1 | |
ligand binding site mutation search in PubMed: ITLN1 | ||
UCL Cancer Institute: ITLN1 | ||
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:0001934 | positive regulation of protein phosphorylation | 16531507 | GO:0046326 | positive regulation of glucose import | 16531507 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | D89 | D89Y | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | D89 | D89Y | -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) |
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Phenotype information for ITLN1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0011860 | Diabetes Mellitus, Type 2 | 3 | Biomarker, GeneticVariation |
umls:C0025500 | Mesothelioma | 1 | AlteredExpression, Biomarker |
umls:C0242698 | Ventricular Dysfunction, Left | 1 | Therapeutic |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ITLN1 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ITLN1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4wmq | A | D89 | CA | CALCIUM(2+) | 4wmq | B | D89 | CA | CALCIUM(2+) | 4wmy | A | D89 | CA | CALCIUM(2+) | 4wmy | B | D89 |
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Conservation information for LBS of ITLN1 |
Multiple alignments for Q8WWA0 in multiple species |
LBS | AA sequence | # species | Species |
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