mutLBSgeneDB |
Gene summary for HINT1 |
Gene summary |
Basic gene Info. | Gene symbol | HINT1 |
Gene name | histidine triad nucleotide binding protein 1 | |
Synonyms | HINT|NMAN|PKCI-1|PRKCNH1 | |
Cytomap | UCSC genome browser: 5q31.2 | |
Type of gene | protein-coding | |
RefGenes | NM_005340.6, NR_024610.2,NR_024611.2,NR_073488.1, | |
Description | adenosine 5'-monophosphoramidasehistidine triad nucleotide-binding protein 1protein kinase C inhibitor 1protein kinase C-interacting protein 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 601314 | |
HGNC : HGNC | ||
HPRD : 03204 | ||
Protein | UniProt: P49773 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HINT1 | |
BioGPS: 3094 | ||
Pathway | NCI Pathway Interaction Database: HINT1 | |
KEGG: HINT1 | ||
REACTOME: HINT1 | ||
Pathway Commons: HINT1 | ||
Context | iHOP: HINT1 | |
ligand binding site mutation search in PubMed: HINT1 | ||
UCL Cancer Institute: HINT1 | ||
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:0009154 | purine ribonucleotide catabolic process | 16835243 |
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Ligand binding site mutations for HINT1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | F19 | G20E | LUAD | 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 HINT1 |
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 | F19 | G20E | -0.98117924 |
(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 HINT1 from PDB |
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Differential gene expression and gene-gene network for HINT1 |
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 HINT1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0036341 | Schizophrenia | 4 | Biomarker, GeneticVariation |
umls:C0242287 | Isaacs Syndrome | 2 | Biomarker, GeneticVariation |
umls:C2932678 | Inherited Peripheral Neuropathy | 1 | Biomarker |
umls:C0026848 | Muscular Diseases | 1 | Biomarker |
umls:C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HINT1 |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved|nutraceutical | DB00131 | Adenosine monophosphate | Small molecule | |
Experimental | DB01972 | Guanosine-5'-Monophosphate | Small molecule | |
Experimental | DB02162 | 5'-O-(N-Ethyl-Sulfamoyl)Adenosine | Small molecule | |
Experimental | DB02183 | Adenosine-5'-Ditungstate | Small molecule | |
Experimental | DB03349 | 8-Bromo-Adenosine-5'-Monophosphate | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of HINT1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | AP2 | ADENOSINE 5'-METHYLENEDIPHOSPHATE | 1av5 | B | F19 | ADW | ADENOSINE-5'-DITUNGSTATE | 1kpe | B | F19 | AMP | AMP | 1kpf | A | F19 | AMP | AMP | 3tw2 | A | F19 | KAA | 5'-O-[N-(L-LYSYL)SULFAMOYL]ADENOSINE | 4eqe | B | F19 | A5A | '5'-O-(N-(L-ALANYL)-SULFAMOYL)ADENOSINE | 4eqg | B | F19 | WSA | 5'-O-[(L-TRYPTOPHYLAMINO)SULFONYL]ADENOSINE | 4eqh | B | F19 |
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Conservation information for LBS of HINT1 |
Multiple alignments for P49773 in multiple species |
LBS | AA sequence | # species | Species | D43 | CLAFHDISPQA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D43 | ALAFHDVSPQA | 1 | Caenorhabditis elegans | F19 | GGDTIFGKIIR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F19 | ANDTLFGKIIR | 1 | Caenorhabditis elegans | F41 | DRCLAFHDISP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F41 | DEALAFHDVSP | 1 | Caenorhabditis elegans | F41 | DQCLAFHDISP | 1 | Bos taurus | G105 | EGSDGGQSVYH | 2 | Homo sapiens, Bos taurus | G105 | EGADGGQSVYH | 2 | Mus musculus, Rattus norvegicus | G105 | NGKDGAQSVFH | 1 | Caenorhabditis elegans | H112 | SVYHVHLHVLG | 2 | Homo sapiens, Bos taurus | H112 | SVYHIHLHVLG | 2 | Mus musculus, Rattus norvegicus | H112 | SVFHLHLHVLG | 1 | Caenorhabditis elegans | H114 | YHVHLHVLGGR | 2 | Homo sapiens, Bos taurus | H114 | YHIHLHVLGGR | 2 | Mus musculus, Rattus norvegicus | H114 | FHLHLHVLGGR | 1 | Caenorhabditis elegans | H42 | RCLAFHDISPQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H42 | EALAFHDVSPQ | 1 | Caenorhabditis elegans | H42 | QCLAFHDISPQ | 1 | Bos taurus | I44 | LAFHDISPQAP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I44 | LAFHDVSPQAP | 1 | Caenorhabditis elegans | L53 | APTHFLVIPKK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L53 | APIHFLVIPKR | 1 | Caenorhabditis elegans | N99 | YRMVVNEGSDG | 2 | Homo sapiens, Bos taurus | N99 | YRMVVNEGADG | 2 | Mus musculus, Rattus norvegicus | N99 | YRVVVNNGKDG | 1 | Caenorhabditis elegans | Q106 | GSDGGQSVYHV | 2 | Homo sapiens, Bos taurus | Q106 | GADGGQSVYHI | 2 | Mus musculus, Rattus norvegicus | Q106 | GKDGAQSVFHL | 1 | Caenorhabditis elegans | S107 | SDGGQSVYHVH | 2 | Homo sapiens, Bos taurus | S107 | ADGGQSVYHIH | 2 | Mus musculus, Rattus norvegicus | S107 | KDGAQSVFHLH | 1 | Caenorhabditis elegans | S45 | AFHDISPQAPT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S45 | AFHDVSPQAPI | 1 | Caenorhabditis elegans | V108 | DGGQSVYHVHL | 2 | Homo sapiens, Bos taurus | V108 | DGGQSVYHIHL | 2 | Mus musculus, Rattus norvegicus | V108 | DGAQSVFHLHL | 1 | Caenorhabditis elegans |
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