mutLBSgeneDB |
Gene summary for HMBOX1 |
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Basic gene Info. | Gene symbol | HMBOX1 |
Gene name | homeobox containing 1 | |
Synonyms | HNF1LA|HOT1|PBHNF | |
Cytomap | UCSC genome browser: 8p21.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001135726.1, NM_024567.3, | |
Description | homeobox telomere-binding protein 1homeobox-containing protein 1homeobox-containing protein PBHNF | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000147421 | ||
HPRD : 07964 | ||
Vega : OTTHUMG00000172138 | ||
Protein | UniProt: Q6NT76 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HMBOX1 | |
BioGPS: 79618 | ||
Pathway | NCI Pathway Interaction Database: HMBOX1 | |
KEGG: HMBOX1 | ||
REACTOME: HMBOX1 | ||
Pathway Commons: HMBOX1 | ||
Context | iHOP: HMBOX1 | |
ligand binding site mutation search in PubMed: HMBOX1 | ||
UCL Cancer Institute: HMBOX1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID | GO:0045892 | negative regulation of transcription, DNA-templated | 19757162 |
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Ligand binding site mutations for HMBOX1 |
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LBS | AAchange of nsSNV | Cancer type | # samples | R267 | R268Q | COAD | 2 | R267 | R268G | OV | 1 | Y291 | Q290R | STAD | 1 | R271 | R271Q | 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 HMBOX1 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | Y291 | Q290R | -0.94820075 | R271 | R271Q | -0.75694508 | R267 | R268G | -0.73330048 | R267 | R268Q | -0.64329172 |
(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) |
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PDB ID | PDB title | PDB structure | 4J19 | Structure of a novel telomere repeat binding protein bound to DNA | ![]() |
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Differential gene expression and gene-gene network for HMBOX1 |
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Phenotype information for HMBOX1 |
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Disease ID | Disease name | # PubMed | Association type |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HMBOX1 |
![]() 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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Drug status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4j19 | B | R267 R271 | NUC | Nucleic Acids | 4j19 | B | R267 R271 Y291 | NUC | Nucleic Acids | 4j19 | A | R271 | NUC | Nucleic Acids | 4j19 | A | R271 Y291 |
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Conservation information for LBS of HMBOX1 |
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LBS | AA sequence | # species | Species |
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