Summary of SERPINF1
The gene codes for a protein, serpin family F member 1. Mutations are linked to osteogenesis imperfecta, type VI [R].
The Function of SERPINF1
Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
Protein names
Recommended name:
Pigment epithelium-derived factorShort name:
PEDFAlternative name(s):
Cell proliferation-inducing gene 35 proteinEPC-1
Serpin F1
- RS1136287 (SERPINF1) ??
- RS12150053 (SERPINF1) ??
- RS9913583 (SERPINF1) ??
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Top Gene-Substance Interactions
SERPINF1 Interacts with These Diseases
| Disease | Score |
Substances That Increase SERPINF1
| Substances | Interaction | Organism | Category |
Substances That Decrease SERPINF1
| Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Osteogenesis imperfecta type 12From UniProt: Osteogenesis imperfecta 6 (OI6): A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification. [MIM:613982]
From NCBI Gene: This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016] From UniProt: Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Retinal pigment epithelial cells and blood plasma.
Developmental stage:
Expressed in quiescent cells.
Molecular Function:
Biological Processes:
- Aging
- Cell Proliferation
- Cellular Response To Cobalt Ion
- Cellular Response To Dexamethasone Stimulus
- Cellular Response To Glucose Stimulus
- Cellular Response To Retinoic Acid
- Kidney Development
- Multicellular Organism Development
- Negative Regulation Of Angiogenesis
- Negative Regulation Of Endothelial Cell Migration
- Negative Regulation Of Epithelial Cell Proliferation Involved In Prostate Gland Development
- Negative Regulation Of Gene Expression
- Negative Regulation Of Inflammatory Response
- Negative Regulation Of Neuron Death
- Ovulation Cycle
- Positive Regulation Of Neurogenesis
- Positive Regulation Of Neuron Projection Development
- Response To Acidic Ph
- Response To Arsenic-Containing Substance
- Retina Development In Camera-Type Eye
- Short-Term Memory