GH1 - growth hormone 1 Gene
Also Known as GH; GHN; GH-N; GHB5; IGHD2; hGH-N; IGHD1A; IGHD1B
生物種: Homo sapiens
About GH1
This gene has 6 transcripts (splice variants), 195 orthologues, 5 paralogues and is associated with 8 phenotypes. Restricted expression toward placenta (RPKM 13.6).
Summary
The protein encoded by this gene is a member of the somatotropin/Prolactin family of Hormones which play an important role in growth control. The gene, along with four Other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth Hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the Other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
GH1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000515.5 | NP_000506.2 | somatotropin isoform 1 precursor |
| NM_022559.4 | NP_072053.1 | somatotropin isoform 2 precursor |
| NM_022560.4 | NP_072054.1 | somatotropin isoform 3 precursor |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables cytokine activity |
IDA
IDA: Inferred from direct assay
|
7782332 | GOA |
| enables growth factor activity |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| enables growth factor activity |
IPI
IPI: Inferred from physical interaction
|
9360546 | GOA |
| enables growth hormone activity |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| enables growth hormone receptor binding |
IDA
IDA: Inferred from direct assay
|
6303755 | GOA |
| enables growth hormone receptor binding |
IPI
IPI: Inferred from physical interaction
|
1549776 | GOA |
| enables prolactin receptor binding |
IDA
IDA: Inferred from direct assay
|
10890569 | GOA |
| enables prolactin receptor binding |
IPI
IPI: Inferred from physical interaction
|
7984244 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8943276 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| is active in extracellular space |
IDA
IDA: Inferred from direct assay
|
5810834 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
11549663 | GOA |
| part of growth hormone receptor complex |
IDA
IDA: Inferred from direct assay
|
1549776 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
somatotropin |
|
GH1 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
GH1 | P01241 | GHR | Homo sapiens | P10912 | 9353194 | |
|
Intra
|
GH1 | P01241 | GHR | Homo sapiens | P10912 | 31279174 | |
|
Intra
|
GH1 | P01241 | GHR | Homo sapiens | P10912 | 8943276 |
Recombinant GH1 Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P7183 | GH/Somatotropin Protein, Human | P01241-1 (F27-F217) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P7360 | GH/Somatotropin Protein, Human (CHO) | CAA23779.1 (F27-F217) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73085 | GH/Somatotropin Protein, Human (His) | P01241-1 (F27-F217) | ≥ 85%, as determined by reducing SDS-PAGE. |
| HY-P700610 | GH/Somatotropin Protein, Human (Biotinylated, HEK293, N-His, C-Avi) | P01241-1 (F27-F217) | ≥ 90%, as determined by reducing SDS-PAGE. |
GH1 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P83522 | Growth Hormone 1 Antibody (YA3267) | WB, IHC-P, IP | Human |
| HY-P83522A | Growth Hormone 1 Antibody (YA3267)(PBS only) | WB, IHC-P, IP | Human |
| HY-P86060 | Humanm Placental lactogen Antibody (YA5752) | IHC-P, ICC/IF, ELISA | Human |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Isolated Growth Hormone Deficiency, Type Ib |
|
|
| Kowarski Syndrome |
|
|
| Isolated Growth Hormone Deficiency, Type Ii |
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
| Growth Hormone Deficiency |
|
|
| Acromegaly |
|
|
| Empty Sella Syndrome |
|
|
| Pituitary Gland Disease |
|
|
| Laron Syndrome |
|
|
| Turner Syndrome |
|
|
| Hypopituitarism |
|
|
| Hyperprolactinemia |
|
|
| Prolactinoma |
|
|
| Pituitary Tumors |
|
|
| Mccune-Albright Syndrome |
|
|
| Chromophobe Adenoma |
|
|
| Fibrous Dysplasia |
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
|
| Hypothalamic Disease |
|
|
| Precocious Puberty |
|
|
| Isolated Growth Hormone Deficiency |
|
|
| Adenoma |
|
|
| Anorexia Nervosa |
|
|
| Pituitary Adenoma |
|
|
| Insulin-Like Growth Factor I |
|
|
| Pituitary Apoplexy |
|
|
| Hyperthyroidism |
|
|
| Conn'S Syndrome |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
|
| Central Diabetes Insipidus |
|
|
| Marasmus |
|
|
| Short Bowel Syndrome |
|
|
| Protein-Deficiency Anemia |
|
|
| Polycystic Ovary Syndrome |
|
|
| Prader-Willi Syndrome |
|
|
| Hyperinsulinism |
|
|
| Hypoglycemia |
|
|
| Glucose Intolerance |
|
|
| Premature Ovarian Failure 7 |
|
|
| Uremia |
|
|
| Septooptic Dysplasia |
|
|
| Hyperandrogenism |
|
|
| Hypogonadism |
|
|
| Acanthosis Nigricans |
|
|
| Hypothyroidism |
|
|
| Syringomyelia |
|
|
| Vipoma |
|
|
| Chronic Fatigue Syndrome |
|
|
| Hyperpituitarism |
|
|
| Diabetes Insipidus |
|
|
| Insulinoma |
|
|
| Type 1 Diabetes Mellitus |
|
|
| Diencephalic Astrocytoma |
|
|
| Hyperglycemia |
|
|
| Pituitary Adenoma 1, Multiple Types |
|
|
| Pituitary-Dependent Cushing'S Disease |
|
|
| Craniopharyngioma |
|
|
| Prediabetes Syndrome |
|
|
| Adermatoglyphia |
|
|
| Cystinosis |
|
|
| Primary Hyperparathyroidism |
|
|
| Congenital Hypothyroidism |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Osteoporosis |
|
|
| Nickel Allergic Contact Dermatitis |
|
|
| Sheehan Syndrome |
|
|
| Diabetes Mellitus |
|
|
| Nutritional Deficiency Disease |
|
|
| Proprotein Convertase 1/3 Deficiency |
|
|
| Scoliosis |
|
|
| Functioning Pituitary Adenoma |
|
|
| Van Maldergem Syndrome 1 |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Motor Neuron Disease |
|
|
| Growth Hormone Secreting Pituitary Adenoma |
|
|
| Partial Third-Nerve Palsy |
|
|
| Breast Cancer |
|
|
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
|
| Disorder Of Sexual Development |
|
|
| Deficiency Anemia |
|
|
| Rasopathy |
|
|
| Noonan Syndrome 1 |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Rattus norvegicus | GH1 | RGD | RGD:2686 |
| Mus musculus | GH1 | MGD | MGI:95707 |