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mutLBSgeneDB |
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| Gene summary for FTH1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FTH1 |
| Gene name | ferritin, heavy polypeptide 1 | |
| Synonyms | FHC|FTH|FTHL6|HFE5|PIG15|PLIF | |
| Cytomap | UCSC genome browser: 11q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002032.2, | |
| Description | apoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin heavy chainplacenta immunoregulatory factorproliferation-inducing protein 15 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 134770 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167996 | ||
| HPRD : 00615 | ||
| Vega : OTTHUMG00000166217 | ||
| Protein | UniProt: P02794 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FTH1 | |
| BioGPS: 2495 | ||
| Pathway | NCI Pathway Interaction Database: FTH1 | |
| KEGG: FTH1 | ||
| REACTOME: FTH1 | ||
| Pathway Commons: FTH1 | ||
| Context | iHOP: FTH1 | |
| ligand binding site mutation search in PubMed: FTH1 | ||
| UCL Cancer Institute: FTH1 | ||
| 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:0006880 | intracellular sequestering of iron ion | 9924025 | GO:0048147 | negative regulation of fibroblast proliferation | 9924025 |
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| Ligand binding site mutations for FTH1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L170 | L170V | BLCA | 1 | W94 | E95D | BLCA | 1 | E62 | E62Q | BLCA | 1 | V111 | V111A | COAD | 1 | D90 | D90N | LUSC | 1 | W94 | W94L | LUSC | 1 | A145 | K144E | OV | 1 | W94 | S96N | STAD | 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 FTH1 |
| 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 |
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| 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 | A145 | K144E | 0.16157424 | V111 | V111A | -1.3649603 | W94 | E95D | -1.1056005 | D90 | D90N | -1.0292738 | E62 | E62Q | -0.68664809 | W94 | W94L | -0.68406093 | L170 | L170V | -0.64631831 | W94 | S96N | -0.5219417 |
| (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 FTH1 from PDB |
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| Differential gene expression and gene-gene network for FTH1 |
| 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 FTH1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0282193 | Iron Overload | 3 | Biomarker |
| umls:C0011581 | Depressive Disorder | 1 | Biomarker |
| umls:C0017638 | Glioma | 1 | Biomarker |
| umls:C0022548 | Keloid | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| umls:C0524851 | Neurodegenerative Diseases | 1 | Biomarker |
| umls:C0032927 | Precancerous Conditions | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FTH1 |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|vet_approved | DB00893 | Iron Dextran | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FTH1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE | IRON(3+) | 1fha | A | E62 | ZN | ZINC(2+) | 2cei | A | E62 | ZN | ZINC(2+) | 2cei | A | E62 | ZN | ZINC(2+) | 2chi | A | E62 | CA | CALCIUM(2+) | 2chi | A | E62 | ZN | ZINC(2+) | 2cih | A | E62 | ZN | ZINC(2+) | 2cih | A | E62 | ZN | ZINC(2+) | 2clu | A | E62 | ZN | ZINC(2+) | 2cn6 | A | E62 | ZN | ZINC(2+) | 2cn6 | A | E62 | MG | MAGNESIUM(2+) | 3ajo | A | E62 | MG | MAGNESIUM(2+) | 3ajp | A | E62 | MG | MAGNESIUM(2+) | 3ajq | A | E62 | CU | COPPER(2+) | 4dyx | A | E62 | CU | COPPER(2+) | 4dyx | A | E62 | CU | COPPER(2+) | 4dyy | A | E62 | CU | COPPER(2+) | 4dyz | A | E62 | CA | CALCIUM(2+) | 4dyz | A | E62 | CU | COPPER(2+) | 4dz0 | A | E62 | CA | CALCIUM(2+) | 4dz0 | A | E62 | FE | IRON(3+) | 4oyn | A | E62 | FE | IRON(3+) | 4oyn | A | E62 | FE2 | IRON(2+) | 4ykh | A | E62 | FE2 | IRON(2+) | 4ykh | A | E62 | FE2 | IRON(2+) | 4zjk | A | E62 | FE2 | IRON(2+) | 4zjk | A | E62 | ZN | ZINC(2+) | 5cmq | A | E62 | ZN | ZINC(2+) | 5cmq | A | E62 | ZN | ZINC(2+) | 5cmq | A | E62 | ZN | ZINC(2+) | 5cmr | A | E62 | FE2 | IRON(2+) | 4y08 | A | E62 | FE2 | IRON(2+) | 4y08 | A | E62 | FE2 | IRON(2+) | 4y08 | A | E62 | OXY | DIOXYGEN | 4y08 | A | E62 | OXY | DIOXYGEN | 4y08 | A | E62 |
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| Conservation information for LBS of FTH1 |
| Multiple alignments for P02794 in multiple species |
| LBS | AA sequence | # species | Species | A145 | NEQVKAIKELG | 1 | Homo sapiens | A145 | DEQVKAIKQLG | 1 | Gallus gallus | A145 | NEQVEAIKELG | 1 | Bos taurus | A145 | SEQVKSIKELG | 1 | Mus musculus | A145 | NEQVKSIKELG | 1 | Rattus norvegicus | C103 | LNAMECALHLE | 2 | Homo sapiens, Mus musculus | C103 | LTAMECALHLE | 1 | Gallus gallus | C103 | LTAMECALCLE | 1 | Bos taurus | C103 | LNAMRCALHLE | 1 | Rattus norvegicus | C131 | NDPHLCDFIET | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | D127 | ATDKNDPHLCD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D127 | ATEKNDPHLCD | 2 | Gallus gallus, Bos taurus | D132 | DPHLCDFIETH | 4 | Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus | D132 | DPHLCDFIETY | 1 | Mus musculus | D90 | DIKKPDRDDWE | 4 | Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | D90 | DIKKPDCDDWE | 1 | Homo sapiens | E108 | CALHLEKNVNQ | 2 | Homo sapiens, Gallus gallus | E108 | CALHLEKSVNQ | 2 | Mus musculus, Rattus norvegicus | E108 | CALCLERSVNQ | 1 | Bos taurus | E135 | LCDFIETHYLN | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | E135 | LCDFIETHYLD | 1 | Gallus gallus | E135 | LCDFIETYYLS | 1 | Mus musculus | E28 | RQINLELYASY | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E62 | LHQSHEEREHA | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E63 | HQSHEEREHAE | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | H119 | SLLELHKLATD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H119 | SLLELHKLATE | 2 | Gallus gallus, Bos taurus | H174 | YLFDKHTLGHG | 2 | Mus musculus, Rattus norvegicus | H174 | YLFDKHTLGDS | 1 | Homo sapiens | H174 | YLFDKHTLGES | 1 | Gallus gallus | H174 | YLFDKHTLGHS | 1 | Bos taurus | H58 | AKYFLHQSHEE | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | H66 | HEEREHAEKLM | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | H66 | HEEREHAERLM | 1 | Bos taurus | L170 | GMAEYLFDKHT | 4 | Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L170 | GLAEYLFDKHT | 1 | Homo sapiens | N12 | SQVRQNYHQDS | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | N12 | SQVRQNYHQDC | 1 | Gallus gallus | N12 | SQVRQNYHQDA | 1 | Mus musculus | N26 | INRQINLELYA | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | P128 | TDKNDPHLCDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P128 | TEKNDPHLCDF | 2 | Gallus gallus, Bos taurus | Q11 | PSQVRQNYHQD | 4 | Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Q11 | TSQVRQNYHQD | 1 | Homo sapiens | Q142 | HYLNEQVKAIK | 1 | Homo sapiens | Q142 | HYLDEQVKAIK | 1 | Gallus gallus | Q142 | HYLNEQVEAIK | 1 | Bos taurus | Q142 | YYLSEQVKSIK | 1 | Mus musculus | Q142 | HYLNEQVKSIK | 1 | Rattus norvegicus | Q59 | KYFLHQSHEER | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Q84 | GRIFLQDIKKP | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R10 | SPSQVRQNYHQ | 3 | Bos taurus, Mus musculus, Rattus norvegicus | R10 | STSQVRQNYHQ | 1 | Homo sapiens | R10 | PPSQVRQNYHQ | 1 | Gallus gallus | T123 | LHKLATDKNDP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T123 | LHKLATEKNDP | 2 | Gallus gallus, Bos taurus | V111 | HLEKNVNQSLL | 2 | Homo sapiens, Gallus gallus | V111 | HLEKSVNQSLL | 2 | Mus musculus, Rattus norvegicus | V111 | CLERSVNQSLL | 1 | Bos taurus | W94 | PDRDDWENGLT | 2 | Gallus gallus, Bos taurus | W94 | PDRDDWESGLN | 2 | Mus musculus, Rattus norvegicus | W94 | PDCDDWESGLN | 1 | Homo sapiens | Y13 | QVRQNYHQDSE | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | Y13 | QVRQNYHQDCE | 1 | Gallus gallus | Y13 | QVRQNYHQDAE | 1 | Mus musculus | Y35 | YASYVYLSMSY | 3 | Homo sapiens, Gallus gallus, Bos taurus | Y35 | YASYVYLSMSC | 2 | Mus musculus, Rattus norvegicus |
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