Gene
gh1
- ID
- ZDB-GENE-030725-2
- Name
- growth hormone 1
- Symbol
- gh1 Nomenclature History
- Previous Names
-
- gh (1)
- ghl
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Exhibits growth hormone activity and growth hormone receptor binding activity. Involved in adipose tissue development and positive regulation of lipid catabolic process. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); autoimmune polyendocrine syndrome type 1; diabetic retinopathy; isolated growth hormone deficiency (multiple); and progeria. Is expressed in several structures, including adenohypophyseal placode; female organism; hematopoietic multipotent progenitor cell; hypophysis; and male organism. Orthologous to several human genes including GH1 (growth hormone 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 84 figures from 54 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated growth hormone deficiency type IA | Alliance | Growth hormone deficiency, isolated, type IA | 262400 |
| isolated growth hormone deficiency type IB | Alliance | Growth hormone deficiency, isolated, type IB | 612781 |
| isolated growth hormone deficiency type II | Alliance | Growth hormone deficiency, isolated, type II | 173100 |
| Kowarski syndrome | 262650 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Four-helical cytokine-like, core | Somatotropin | Somatotropin hormone, conserved site | Somatotropin/prolactin |
|---|---|---|---|---|---|
|
UniProtKB:Q1JQ34
|
210 |
Interactions and Pathways
Plasmids
No data available