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mutLBSgeneDB |
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| Gene summary for ALDH1L1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ALDH1L1 |
| Gene name | aldehyde dehydrogenase 1 family, member L1 | |
| Synonyms | 10-FTHFDH|10-fTHF|FDH|FTHFD | |
| Cytomap | UCSC genome browser: 3q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001270364.1, NM_001270365.1,NM_012190.3,NR_072979.1, | |
| Description | 10-formyltetrahydrofolate dehydrogenaseMER57B-ALDH1L1cytosolic 10-formyltetrahydrofolate dehydrogenase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600249 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000144908 | ||
| HPRD : 02594 | ||
| Vega : OTTHUMG00000125551 | ||
| Protein | UniProt: O75891 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALDH1L1 | |
| BioGPS: 10840 | ||
| Pathway | NCI Pathway Interaction Database: ALDH1L1 | |
| KEGG: ALDH1L1 | ||
| REACTOME: ALDH1L1 | ||
| Pathway Commons: ALDH1L1 | ||
| Context | iHOP: ALDH1L1 | |
| ligand binding site mutation search in PubMed: ALDH1L1 | ||
| UCL Cancer Institute: ALDH1L1 | ||
| 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 |
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| Ligand binding site mutations for ALDH1L1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F135 | A137V | COAD | 1 | G140 | G140V | KIRC | 1 | F135 | W136C | SKCM | 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 ALDH1L1 |
| 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 | F135 | W136C | -0.9792895 | G140 | G140V | -0.75946791 | F135 | A137V | -0.28410001 |
| (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 ALDH1L1 from PDB |
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| Differential gene expression and gene-gene network for ALDH1L1 |
| 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 ALDH1L1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003130 | Anoxia | 1 | Biomarker |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | Biomarker |
| umls:C0028754 | Obesity | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ALDH1L1 |
| 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|nutraceutical | DB00116 | Tetrahydrofolic acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ALDH1L1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZZZ | 6-FORMYLTETRAHYDROPTERIN | 2cfi | A | F135 G140 |
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| Conservation information for LBS of ALDH1L1 |
| Multiple alignments for O75891 in multiple species |
| LBS | AA sequence | # species | Species | C86 | NVLPFCSQFIP | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D142 | ADDGLDTGDLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D142 | ADDGLDTGDIL | 1 | Xenopus tropicalis | F135 | GGFTIFWADDG | 3 | Xenopus tropicalis, Mus musculus, Rattus norvegicus | F135 | GGFSIFWADDG | 1 | Homo sapiens | F89 | PFCSQFIPMEV | 3 | Xenopus tropicalis, Mus musculus, Rattus norvegicus | F89 | PFCSQFIPMEI | 1 | Homo sapiens | G140 | FWADDGLDTGD | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | I104 | RHGSIIYHPSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I104 | KHGSIIYHPSI | 1 | Xenopus tropicalis | I90 | FCSQFIPMEVI | 3 | Xenopus tropicalis, Mus musculus, Rattus norvegicus | I90 | FCSQFIPMEII | 1 | Homo sapiens | I95 | IPMEVINAPRH | 2 | Mus musculus, Rattus norvegicus | I95 | IPMEIISAPRH | 1 | Homo sapiens | I95 | IPMEVIDCPKH | 1 | Xenopus tropicalis | M92 | SQFIPMEVINA | 2 | Mus musculus, Rattus norvegicus | M92 | SQFIPMEIISA | 1 | Homo sapiens | M92 | SQFIPMEVIDC | 1 | Xenopus tropicalis | Q88 | LPFCSQFIPME | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | S87 | VLPFCSQFIPM | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus |
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