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mutLBSgeneDB |
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| Gene summary for HIBADH |
 Gene summary |
| Basic gene Info. | Gene symbol | HIBADH |
| Gene name | 3-hydroxyisobutyrate dehydrogenase | |
| Synonyms | NS5ATP1 | |
| Cytomap | UCSC genome browser: 7p15.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_152740.3, | |
| Description | 3'-hydroxyisobutyrate dehydrogenase3-hydroxyisobutyrate dehydrogenase, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608475 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000106049 | ||
| HPRD : 12238 | ||
| Vega : OTTHUMG00000097035 | ||
| Protein | UniProt: P31937 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HIBADH | |
| BioGPS: 11112 | ||
| Pathway | NCI Pathway Interaction Database: HIBADH | |
| KEGG: HIBADH | ||
| REACTOME: HIBADH | ||
| Pathway Commons: HIBADH | ||
| Context | iHOP: HIBADH | |
| ligand binding site mutation search in PubMed: HIBADH | ||
| UCL Cancer Institute: HIBADH | ||
| 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:0006574 | valine catabolic process | 16466957 |
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| Ligand binding site mutations for HIBADH |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I45 | G43R | COAD | 1 | V159 | P158S | SKCM | 1 | F71 | P72R | SKCM | 1 | F71 | F71L | 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 HIBADH |
| 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 | V159 | P158S | -1.247281 | F71 | P72R | -0.8760497 | F71 | F71L | -0.56627451 | I45 | G43R | -0.45591274 |
| (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 HIBADH from PDB |
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| Differential gene expression and gene-gene network for HIBADH |
| 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 HIBADH |
| 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 HIBADH |
| 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 |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HIBADH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 2i9p | A | I45 F71 V159 | NAD | NAD ZWITTERION | 2i9p | C | I45 F71 V159 | NAD | NAD ZWITTERION | 2i9p | D | I45 F71 V159 | NAD | NAD ZWITTERION | 2i9p | B | I45 V159 |
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| Conservation information for LBS of HIBADH |
| Multiple alignments for P31937 in multiple species |
| LBS | AA sequence | # species | Species | D285 | TLMAKDLGLAQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D285 | KLMAKDLNLAA | 1 | Arabidopsis thaliana | D285 | ALITKDLGLAS | 1 | Drosophila melanogaster | D285 | TLMAKDLSLAQ | 1 | Caenorhabditis elegans | D69 | PLIIYDVFPDA | 2 | Homo sapiens, Bos taurus | D69 | PLILYDVFPDV | 2 | Mus musculus, Rattus norvegicus | D69 | KVTVHDINRDV | 1 | Arabidopsis thaliana | D69 | KLHVFDISKPA | 1 | Drosophila melanogaster | D69 | KLIVYDVNKAV | 1 | Caenorhabditis elegans | F277 | NYQGGFGTTLM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F277 | DYNGGFASKLM | 1 | Arabidopsis thaliana | F277 | DYAGGFSSALI | 1 | Drosophila melanogaster | F277 | GYAGGFGTTLM | 1 | Caenorhabditis elegans | F71 | IIYDVFPDACK | 2 | Homo sapiens, Bos taurus | F71 | ILYDVFPDVCK | 2 | Mus musculus, Rattus norvegicus | F71 | TVHDINRDVMK | 1 | Arabidopsis thaliana | F71 | HVFDISKPACD | 1 | Drosophila melanogaster | F71 | IVYDVNKAVVQ | 1 | Caenorhabditis elegans | G161 | DAPVSGGVGAA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G161 | DAPVSGGVLAA | 1 | Arabidopsis thaliana | G161 | DAPVSGGVPGA | 1 | Drosophila melanogaster | G161 | DAPISGGVTGA | 1 | Caenorhabditis elegans | G162 | APVSGGVGAAR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G162 | APVSGGVLAAE | 1 | Arabidopsis thaliana | G162 | APVSGGVPGAE | 1 | Drosophila melanogaster | G162 | APISGGVTGAQ | 1 | Caenorhabditis elegans | G46 | PVGFIGLGNMG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G46 | NVGFIGLGNMG | 1 | Arabidopsis thaliana | G46 | NIGFVGLGNMG | 1 | Drosophila melanogaster | G46 | -TGFIGLGNMG | 1 | Caenorhabditis elegans | G46 | PVGFIGVGNMG | 1 | Bos taurus | G48 | GFIGLGNMGNP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G48 | GFIGLGNMGFR | 1 | Arabidopsis thaliana | G48 | GFVGLGNMGAN | 1 | Drosophila melanogaster | G48 | GFIGLGNMGGH | 1 | Caenorhabditis elegans | G48 | GFIGVGNMGNP | 1 | Bos taurus | I45 | TPVGFIGLGNM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I45 | QNVGFIGLGNM | 1 | Arabidopsis thaliana | I45 | KNIGFVGLGNM | 1 | Drosophila melanogaster | I45 | --TGFIGLGNM | 1 | Caenorhabditis elegans | I45 | TPVGFIGVGNM | 1 | Bos taurus | K209 | TGQAAKICNNM | 1 | Homo sapiens | K209 | NGSAAKICNNL | 1 | Arabidopsis thaliana | K209 | MGQAAKLCNNM | 1 | Drosophila melanogaster | K209 | NGTAAKICNNM | 1 | Caenorhabditis elegans | K209 | TGQSAKICNNM | 1 | Mus musculus | K209 | SGQSAKICNNM | 1 | Rattus norvegicus | K209 | TGQAAKICNNL | 1 | Bos taurus | K284 | TTLMAKDLGLA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K284 | SKLMAKDLNLA | 1 | Arabidopsis thaliana | K284 | SALITKDLGLA | 1 | Drosophila melanogaster | K284 | TTLMAKDLSLA | 1 | Caenorhabditis elegans | L103 | RIITMLPTSIN | 2 | Homo sapiens, Bos taurus | L103 | RIITMLPSSMN | 2 | Mus musculus, Rattus norvegicus | L103 | VVITMLPSSSH | 1 | Arabidopsis thaliana | L103 | FVITMLPNNAI | 1 | Drosophila melanogaster | L103 | EIITVLPSSPH | 1 | Caenorhabditis elegans | L281 | GFGTTLMAKDL | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | L281 | GFASKLMAKDL | 1 | Arabidopsis thaliana | L281 | GFSSALITKDL | 1 | Drosophila melanogaster | M102 | DRIITMLPTSI | 2 | Homo sapiens, Bos taurus | M102 | DRIITMLPSSM | 2 | Mus musculus, Rattus norvegicus | M102 | EVVITMLPSSS | 1 | Arabidopsis thaliana | M102 | DFVITMLPNNA | 1 | Drosophila melanogaster | M102 | KEIITVLPSSP | 1 | Caenorhabditis elegans | M50 | IGLGNMGNPMA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M50 | IGLGNMGFRMV | 1 | Arabidopsis thaliana | M50 | VGLGNMGANMA | 1 | Drosophila melanogaster | M50 | IGLGNMGGHMA | 1 | Caenorhabditis elegans | M50 | IGVGNMGNPMA | 1 | Bos taurus | N108 | LPTSINAIEAY | 2 | Homo sapiens, Bos taurus | N108 | LPSSSHVMDVY | 1 | Arabidopsis thaliana | N108 | LPNNAIVDASY | 1 | Drosophila melanogaster | N108 | LPSSPHVKAVY | 1 | Caenorhabditis elegans | N108 | LPSSMNAVEVY | 1 | Mus musculus | N108 | LPSSMNSIEVY | 1 | Rattus norvegicus | N49 | FIGLGNMGNPM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N49 | FIGLGNMGFRM | 1 | Arabidopsis thaliana | N49 | FVGLGNMGANM | 1 | Drosophila melanogaster | N49 | FIGLGNMGGHM | 1 | Caenorhabditis elegans | N49 | FIGVGNMGNPM | 1 | Bos taurus | P104 | IITMLPTSINA | 2 | Homo sapiens, Bos taurus | P104 | VITMLPSSSHV | 1 | Arabidopsis thaliana | P104 | VITMLPNNAIV | 1 | Drosophila melanogaster | P104 | IITVLPSSPHV | 1 | Caenorhabditis elegans | P104 | IITMLPSSMNA | 1 | Mus musculus | P104 | IITMLPSSMNS | 1 | Rattus norvegicus | T134 | LIDSSTIDPSV | 2 | Mus musculus, Rattus norvegicus | T134 | LIDSSTIDPAV | 1 | Homo sapiens | T134 | FIDSSTIDPQT | 1 | Arabidopsis thaliana | T134 | FIDSSTISPDL | 1 | Drosophila melanogaster | T134 | CMDSSTIDQIV | 1 | Caenorhabditis elegans | T134 | LIDSSTIDPMV | 1 | Bos taurus | V159 | FMDAPVSGGVG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V159 | MLDAPVSGGVL | 1 | Arabidopsis thaliana | V159 | FIDAPVSGGVP | 1 | Drosophila melanogaster | V159 | YIDAPISGGVT | 1 | Caenorhabditis elegans | V70 | LIIYDVFPDAC | 2 | Homo sapiens, Bos taurus | V70 | LILYDVFPDVC | 2 | Mus musculus, Rattus norvegicus | V70 | VTVHDINRDVM | 1 | Arabidopsis thaliana | V70 | LHVFDISKPAC | 1 | Drosophila melanogaster | V70 | LIVYDVNKAVV | 1 | Caenorhabditis elegans | Y68 | YPLIIYDVFPD | 2 | Homo sapiens, Bos taurus | Y68 | YPLILYDVFPD | 2 | Mus musculus, Rattus norvegicus | Y68 | YKVTVHDINRD | 1 | Arabidopsis thaliana | Y68 | HKLHVFDISKP | 1 | Drosophila melanogaster | Y68 | KKLIVYDVNKA | 1 | Caenorhabditis elegans |
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