mutLBSgeneDB |
Gene summary for ALKBH3 |
Gene summary |
Basic gene Info. | Gene symbol | ALKBH3 |
Gene name | alkB, alkylation repair homolog 3 (E. coli) | |
Synonyms | ABH3|DEPC-1|DEPC1|PCA1 | |
Cytomap | UCSC genome browser: 11p11.2 | |
Type of gene | protein-coding | |
RefGenes | NM_139178.3, | |
Description | alkylated DNA repair protein alkB homolog 3alpha-ketoglutarate-dependent dioxygenase alkB homolog 3prostate cancer antigen 1prostate cancer antigen-1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 610603 | |
HGNC : HGNC | ||
Ensembl : ENSG00000166199 | ||
HPRD : 16793 | ||
Vega : OTTHUMG00000166417 | ||
Protein | UniProt: Q96Q83 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ALKBH3 | |
BioGPS: 221120 | ||
Pathway | NCI Pathway Interaction Database: ALKBH3 | |
KEGG: ALKBH3 | ||
REACTOME: ALKBH3 | ||
Pathway Commons: ALKBH3 | ||
Context | iHOP: ALKBH3 | |
ligand binding site mutation search in PubMed: ALKBH3 | ||
UCL Cancer Institute: ALKBH3 | ||
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:0006281 | DNA repair | 16858410 | GO:0006307 | DNA dealkylation involved in DNA repair | 16858410 | GO:0035552 | oxidative single-stranded DNA demethylation | 16858410 |
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Ligand binding site mutations for ALKBH3 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D254 | D254N | UCEC | 1 | R275 | R275Q | 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 ALKBH3 |
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 | R275 | R275Q | -1.3094524 | D254 | D254N | -0.96014536 |
(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 ALKBH3 from PDB |
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Differential gene expression and gene-gene network for ALKBH3 |
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 ALKBH3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ALKBH3 |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|nutraceutical | DB00126 | Vitamin C | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ALKBH3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE | IRON(3+) | 2iuw | A | D254 | AKG | 2-OXOGLUTARIC ACID | 2iuw | A | R275 |
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Conservation information for LBS of ALKBH3 |
Multiple alignments for Q96Q83 in multiple species |
LBS | AA sequence | # species | Species | A250 | LIMEGATQADW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D193 | VDWHSDDEPSL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D254 | GATQADWQHRV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E75 | RVIDREGVYEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E75 | RVIEKEGVYEI | 1 | Bos taurus | G86 | SLSPTGVSRVC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G86 | SMSPTGISRVC | 1 | Bos taurus | H191 | DSVDWHSDDEP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H257 | QADWQHRVPKE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L177 | TFNSLLCNFYR | 2 | Mus musculus, Rattus norvegicus | L177 | TFNSLLCNLYR | 1 | Homo sapiens | L177 | SFNSLLCNLYR | 1 | Bos taurus | L82 | VYEISLSPTGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L82 | VYEISMSPTGI | 1 | Bos taurus | N179 | NSLLCNLYRNE | 2 | Homo sapiens, Bos taurus | N179 | NSLLCNFYRDE | 2 | Mus musculus, Rattus norvegicus | N271 | REPRVNLTFRT | 1 | Homo sapiens | N271 | RQPRVNLTFRT | 1 | Mus musculus | N271 | RERRVNLTFRT | 1 | Rattus norvegicus | N271 | REPRINLTFRT | 1 | Bos taurus | R269 | HSREPRVNLTF | 1 | Homo sapiens | R269 | HSRQPRVNLTF | 1 | Mus musculus | R269 | HSRERRVNLTF | 1 | Rattus norvegicus | R269 | HSREPRINLTF | 1 | Bos taurus | R275 | VNLTFRTVYPD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R275 | INLTFRTVYPD | 1 | Bos taurus | R74 | PRVIDREGVYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R74 | PRVIEKEGVYE | 1 | Bos taurus | S81 | GVYEISLSPTG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S81 | GVYEISMSPTG | 1 | Bos taurus | S83 | YEISLSPTGVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S83 | YEISMSPTGIS | 1 | Bos taurus | S88 | SPTGVSRVCLY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S88 | SPTGISRVCLC | 1 | Bos taurus | V259 | DWQHRVPKEYH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y181 | LLCNLYRNEKD | 2 | Homo sapiens, Bos taurus | Y181 | LLCNFYRDEKD | 2 | Mus musculus, Rattus norvegicus |
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