mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for GH1
Gene summary
Basic gene Info.Gene symbolGH1
Gene namegrowth hormone 1
CytomapUCSC genome browser: 17q24.2
Type of geneprotein-coding
Descriptionpituitary growth hormonesomatotropin
Modification date20141207
dbXrefs MIM : 139250
Ensembl : ENSG00000259384
HPRD : 00751
Vega : OTTHUMG00000172293
ProteinUniProt: P01241
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GH1
BioGPS: 2688
PathwayNCI Pathway Interaction Database: GH1
Pathway Commons: GH1
ContextiHOP: GH1
ligand binding site mutation search in PubMed: GH1
UCL Cancer Institute: GH1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0002092positive regulation of receptor internalization9360546
GO:0007259JAK-STAT cascade8063815
GO:0010535positive regulation of activation of JAK2 kinase activity12552091
GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling7782332
GO:0015758glucose transport9144201
GO:0032355response to estradiol12552091
GO:0040018positive regulation of multicellular organism growth20110402
GO:0042517positive regulation of tyrosine phosphorylation of Stat3 protein12552091
GO:0042523positive regulation of tyrosine phosphorylation of Stat5 protein12552091
GO:0043568positive regulation of insulin-like growth factor receptor signaling pathway7565946
GO:0046427positive regulation of JAK-STAT cascade8923468
GO:0050731positive regulation of peptidyl-tyrosine phosphorylation7782332
GO:0060396growth hormone receptor signaling pathway8063815
GO:0070977bone maturation20110402

Ligand binding site mutations for GH1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of GH1 and the right PPI network was created from samples without mutations in the LBS of GH1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for GH1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001206Acromegaly46Biomarker, GeneticVariation
umls:C0032019Pituitary Neoplasms45AlteredExpression, Biomarker
umls:C0041408Turner Syndrome41Biomarker, Therapeutic
umls:C0346302Growth Hormone-Secreting Pituitary Adenoma16Biomarker
umls:C0271567Isolated Growth Hormone Deficiency, Type II6Biomarker, GeneticVariation
umls:C0007222Cardiovascular Diseases5Biomarker, Therapeutic
umls:C0026846Muscular Atrophy3Biomarker, Therapeutic
umls:C0342573Pituitary dwarfism 12Biomarker, GeneticVariation
umls:C0024668Mammary Neoplasms, Experimental2Biomarker
umls:C1849779Kowarski syndrome1Biomarker, GeneticVariation
umls:C0018273Growth Disorders1Therapeutic
umls:C0021655Insulin Resistance1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Therapeutic
umls:C0043094Weight Gain1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GH1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of GH1
Multiple alignments for P01241 in multiple species
LBSAA sequence# speciesSpecies
E200DMDKVETFLRI2Homo sapiens, Pan troglodytes
E200DMDKIETFLRI1Macaca mulatta
H44AMLRAHRLHQL3Homo sapiens, Pan troglodytes, Macaca mulatta

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