mutLBSgeneDB |
Gene summary for GH1 |
Gene summary |
Basic gene Info. | Gene symbol | GH1 |
Gene name | growth hormone 1 | |
Synonyms | GH|GH-N|GHN|IGHD1B|hGH-N | |
Cytomap | UCSC genome browser: 17q24.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000515.4, NM_022559.3,NM_022560.3,NM_022561.2,NM_022562.2, | |
Description | pituitary growth hormonesomatotropin | |
Modification date | 20141207 | |
dbXrefs | MIM : 139250 | |
HGNC : HGNC | ||
Ensembl : ENSG00000259384 | ||
HPRD : 00751 | ||
Vega : OTTHUMG00000172293 | ||
Protein | UniProt: P01241 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GH1 | |
BioGPS: 2688 | ||
Pathway | NCI Pathway Interaction Database: GH1 | |
KEGG: GH1 | ||
REACTOME: GH1 | ||
Pathway Commons: GH1 | ||
Context | iHOP: GH1 | |
ligand binding site mutation search in PubMed: GH1 | ||
UCL Cancer Institute: GH1 | ||
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:0002092 | positive regulation of receptor internalization | 9360546 | GO:0007259 | JAK-STAT cascade | 8063815 | GO:0010535 | positive regulation of activation of JAK2 kinase activity | 12552091 | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 7782332 | GO:0015758 | glucose transport | 9144201 | GO:0032355 | response to estradiol | 12552091 | GO:0040018 | positive regulation of multicellular organism growth | 20110402 | GO:0042517 | positive regulation of tyrosine phosphorylation of Stat3 protein | 12552091 | GO:0042523 | positive regulation of tyrosine phosphorylation of Stat5 protein | 12552091 | GO:0043568 | positive regulation of insulin-like growth factor receptor signaling pathway | 7565946 | GO:0046427 | positive regulation of JAK-STAT cascade | 8923468 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 7782332 | GO:0060396 | growth hormone receptor signaling pathway | 8063815 | GO:0070977 | bone maturation | 20110402 |
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Ligand binding site mutations for GH1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H44 | A43T | COAD | 1 | H44 | H44N | 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 GH1 |
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 | H44 | H44N | -0.76919934 | H44 | A43T | -0.46621067 |
(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 GH1 from PDB |
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Differential gene expression and gene-gene network for GH1 |
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 GH1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0001206 | Acromegaly | 46 | Biomarker, GeneticVariation |
umls:C0032019 | Pituitary Neoplasms | 45 | AlteredExpression, Biomarker |
umls:C0041408 | Turner Syndrome | 41 | Biomarker, Therapeutic |
umls:C0028754 | Obesity | 31 | Biomarker |
umls:C0346302 | Growth Hormone-Secreting Pituitary Adenoma | 16 | Biomarker |
umls:C0271567 | Isolated Growth Hormone Deficiency, Type II | 6 | Biomarker, GeneticVariation |
umls:C0007222 | Cardiovascular Diseases | 5 | Biomarker, Therapeutic |
umls:C0026846 | Muscular Atrophy | 3 | Biomarker, Therapeutic |
umls:C0342573 | Pituitary dwarfism 1 | 2 | Biomarker, GeneticVariation |
umls:C0024668 | Mammary Neoplasms, Experimental | 2 | Biomarker |
umls:C1849779 | Kowarski syndrome | 1 | Biomarker, GeneticVariation |
umls:C0242528 | Azotemia | 1 | Biomarker |
umls:C0018273 | Growth Disorders | 1 | Therapeutic |
umls:C0021655 | Insulin Resistance | 1 | Biomarker |
umls:C0023893 | Liver Cirrhosis, Experimental | 1 | Therapeutic |
umls:C0032461 | Polycythemia | 1 | Biomarker |
umls:C0043094 | Weight Gain | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GH1 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of GH1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of GH1 |
Multiple alignments for P01241 in multiple species |
LBS | AA sequence | # species | Species | E200 | DMDKVETFLRI | 2 | Homo sapiens, Pan troglodytes | E200 | DMDKIETFLRI | 1 | Macaca mulatta | H44 | AMLRAHRLHQL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta |
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