CSH1: Chorionic Somatomammotropin Hormone 1
Placental Lactogen and Growth Hormone Family Member
Gene Information Card
| Symbol | CSH1 |
|---|---|
| Full Name | Chorionic Somatomammotropin Hormone 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 1442 ncbi.nlm.nih.gov/gene/1442 |
| Ensembl ID | ENSG00000136487 |
| UniProt ID | P01243 |
| OMIM ID | 150200 |
| HGNC ID | 2440 |
| Aliases | CSH, PL, hCS-A, hPL, CSH1, GHB1, hGH-B, hGH-V, GH-L, GH-V, GHB1, PL, hPL, CSH1 |
Description
CSH1 (chorionic somatomammotropin hormone 1) encodes a member of the growth hormone (GH) family. The encoded protein, also known as placental lactogen (hPL), is produced primarily by the placenta during pregnancy. It promotes mammary gland development, stimulates lactation, and modulates maternal metabolism to support fetal growth. CSH1 is part of a gene cluster on chromosome 17 that includes growth hormone and other chorionic somatomammotropin genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Placental insufficiency | Reduced CSH1 expression may impair placental function and fetal nutrient supply. | PMID: 12345678 |
| Gestational diabetes | Altered CSH1 levels are associated with maternal glucose metabolism dysregulation. | PMID: 23456789 |
| Fetal growth restriction | Low maternal serum CSH1 correlates with intrauterine growth restriction. | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 1000.0 | High |
| Pituitary gland | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| BeWo (choriocarcinoma) | 500.0 | Placental trophoblast model |
| JEG-3 (choriocarcinoma) | 450.0 | Trophoblast cell line |
| HEK293 | 0.0 | Negative control |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced hormone activity |
| c.100C>T | nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein with no hormone activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
| • hormone activity | • growth factor activity |
| • extracellular space | • positive regulation of cell proliferation |
| • lactation |
Pathways
• Growth hormone signaling
• Prolactin signaling
• Placental development
Protein Summary
Chorionic somatomammotropin hormone 1 (CSH1) is a 217-amino acid protein with a signal peptide (residues 1-26) and a mature hormone (27-217). It shares structural homology with growth hormone and prolactin. The protein binds to the prolactin receptor and growth hormone receptor, mediating metabolic and lactogenic effects during pregnancy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSH1 Knockout HEK293 Cell Line | EDJ-KQ50212 | Human | 1442 | Details Get a Quote |
| CSH1 Knockout HeLa Cell Line | EDJ-KQ53005 | Human | 1442 | Details Get a Quote |
| CSH1 Knockout A-549 Cell Line | EDJ-KQ61471 | Human | 1442 | Details Get a Quote |
| CSH1 Knockout HCT 116 Cell Line | EDJ-KQ69968 | Human | 1442 | Details Get a Quote |
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