GHR - growth hormone receptor Gene
Also Known as GHBP; GHIP
Species: Homo sapiens
About GHR
This gene has 13 transcripts (splice variants), 422 orthologues, 23 paralogues and is associated with 6 phenotypes. Biased expression in fat (RPKM 43.6), liver (RPKM 35.0) and 7 other tissues.
Summary
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
GHR Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_000163.5 | NP_000154.1 | growth hormone receptor isoform 1 precursor |
| NM_001242399.2 | NP_001229328.1 | growth hormone receptor isoform 2 precursor |
| NM_001242400.2 | NP_001229329.1 | growth hormone receptor isoform 1 precursor |
| NM_001242401.4 | NP_001229330.1 | growth hormone receptor isoform 1 precursor |
| NM_001242402.2 | NP_001229331.1 | growth hormone receptor isoform 1 precursor |
| NM_001242403.3 | NP_001229332.1 | growth hormone receptor isoform 1 precursor |
| NM_001242404.2 | NP_001229333.1 | growth hormone receptor isoform 1 precursor |
| NM_001242405.2 | NP_001229334.1 | growth hormone receptor isoform 1 precursor |
| NM_001242406.2 | NP_001229335.1 | growth hormone receptor isoform 1 precursor |
| NM_001242460.1 | NP_001229389.1 | growth hormone receptor isoform 3 precursor |
| NM_001242462.1 | NP_001229391.1 | growth hormone receptor isoform 5 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables growth factor binding |
IPI
IPI: Inferred from physical interaction
|
9360546 | GOA |
| enables growth hormone receptor activity |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16116438 | GOA |
| enables lipid binding |
EXP
EXP: Inferred from Experiment
|
25846210 | GOA |
| enables peptide hormone binding |
IPI
IPI: Inferred from physical interaction
|
1549776 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8943276 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
8137822 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
8137822 | GOA |
| located in extracellular space |
IMP
IMP: Inferred from mutant phenotype
|
2825030 | GOA |
| part of growth hormone receptor complex |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
2825030 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8137822 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
8137822 | GOA |
GHR Protein Structure
EpoR_lig-bind: Erythropoietin receptor, ligand binding (47 - 134)
fn3: Fibronectin type III domain (170 - 236)
GHBP: Growth hormone receptor binding (316 - 617)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 638 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
growth hormone receptor |
|
GHR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GHR | P10912 | PTPN3 | Homo sapiens | P26045 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN3 | Homo sapiens | P26045 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN3 | Homo sapiens | P26045 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPRB | Homo sapiens | P23467 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPRB | Homo sapiens | P23467 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPRB | Homo sapiens | P23467 | 19167335 | |
|
Intra
|
GHR | P10912 | PTPRH | Homo sapiens | Q9HD43 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPRH | Homo sapiens | Q9HD43 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPRJ | Homo sapiens | Q12913 | 19167335 | |
|
Intra
|
GHR | P10912 | PTPN1 | Homo sapiens | P18031 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN1 | Homo sapiens | P18031 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN2 | Homo sapiens | P17706 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN2 | Homo sapiens | P17706 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN2 | Homo sapiens | P17706 | 12907755 | |
|
Intra
|
GHR | P10912 | NCK1 | Homo sapiens | P16333 | 17474147 | |
|
Intra
|
GHR | P10912 | PTPN9 | Homo sapiens | P43378 | 12907755 | |
|
Intra
|
GHR | P10912 | PTPN9 | Homo sapiens | P43378 | 12907755 | |
|
Cross
|
GHR | P10912 | Ncoa6 | Rattus norvegicus | Q9JLI4 | 10866662 |
Recombinant GHR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72024 | Growth Hormone Receptor/GHR Protein, Human (HEK293, hFc) | P10912-1 (A27-Y264) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P72204 | Growth Hormone Receptor/GHR Protein, Human (His-SUMO) | P10912-1 (F19-Y264) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P78869 | Growth Hormone Receptor/GHR Protein, Human (Biotinylated, HEK293, His) | P10912-1 (A27-Y264) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P700413 | Growth Hormone Receptor/GHR Protein, Human (Biotinylated, HEK293, mFc-Avi) | P10912-1 (A27-Y264) | ≥ 95%, as determined by reducing SDS-PAGE. |
GHR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810776 | Growth hormone receptor Antibody (YA10019) | WB, ICC/IF, FC | Human, Mouse, Rat |
| HY-P81107 | Growth hormone receptor Antibody | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Laron Syndrome |
|
|
| Growth Hormone Insensitivity, Partial |
|
|
| Hypercholesterolemia, Familial, 1 |
|
|
| Growth Hormone Deficiency, Isolated Partial |
|
|
| Specific Learning Disability |
|
|
| Acromegaly |
|
|
| Insulin-Like Growth Factor I |
|
|
| Familial Hypercholesterolemia |
|
|
| Turner Syndrome |
|
|
| Uremia |
|
|
| Anorexia Nervosa |
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
| Actinic Keratosis |
|
|
| Pituitary Adenoma |
|
|
| Hypopituitarism |
|
|
| Schizophrenia 11 |
|
|
| Hypoglycemia |
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
|
| Hyperpituitarism |
|
|
| Familial Hyperlipidemia |
|
|
| Hyperinsulinism |
|
|
| Hypothyroidism |
|
|
| Severe Combined Immunodeficiency, X-Linked |
|
|
| Gestational Diabetes |
|
|
| Obstructive Jaundice |
|
|
| Prader-Willi Syndrome |
|
|
| Congenital Hypothyroidism |
|
|
| Osteoporosis |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Noonan Syndrome 1 |
|
|
| Pituitary Gland Disease |
|
|
| Scoliosis |
|
|
| Diabetes Mellitus |
|
|
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Three M Syndrome 1 |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Prostate Cancer |
|
|
| Rasopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | GHR | MGD | MGI:95708 |
| Macaca mulatta | GHR | VGNC | VGNC:72922 |
| Rattus norvegicus | GHR | RGD | RGD:2687 |
| Bos taurus | GHR | VGNC | VGNC:50184 |
| Felis catus | GHR | VGNC | VGNC:62544 |
| Canis familiaris | GHR | VGNC | VGNC:41206 |
| Others | GHR | NCBI |