InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SERPINF1

Summary

InnateDB Protein

IDBP-15625.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SERPINF1

Protein Name

serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1

Synonyms

EPC-1; OI12; OI6; PEDF;

Species

Homo sapiens

Ensembl Protein

ENSP00000254722

InnateDB Gene

IDBG-15621 (SERPINF1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:7592790, ECO:0000269PubMed:8226833}.

Subcellular Localization

Secreted {ECO:0000269PubMed:17081065}. Melanosome {ECO:0000269PubMed:17081065}. Note=Enriched in stage I melanosomes.

Disease Associations

Osteogenesis imperfecta 6 (OI6) [MIM:613982]: 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. {ECO:0000269PubMed:21353196}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retinal pigment epithelial cells and blood plasma. {ECO:0000269PubMed:12737624}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	6 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004867	serine-type endopeptidase inhibitor activity

Biological Process

GO:0001822	kidney development
GO:0007275	multicellular organismal development
GO:0007568	aging
GO:0007614	short-term memory
GO:0008283	cell proliferation
GO:0010447	response to acidity
GO:0010596	negative regulation of endothelial cell migration
GO:0010629	negative regulation of gene expression
GO:0010951	negative regulation of endopeptidase activity
GO:0010976	positive regulation of neuron projection development
GO:0016525	negative regulation of angiogenesis
GO:0030162	regulation of proteolysis
GO:0042698	ovulation cycle
GO:0046685	response to arsenic-containing substance
GO:0050728	negative regulation of inflammatory response
GO:0050769	positive regulation of neurogenesis
GO:0060041	retina development in camera-type eye
GO:0060770	negative regulation of epithelial cell proliferation involved in prostate gland development
GO:0071279	cellular response to cobalt ion
GO:0071300	cellular response to retinoic acid
GO:0071333	cellular response to glucose stimulus
GO:0071549	cellular response to dexamethasone stimulus
GO:1901215	negative regulation of neuron death

Cellular Component

GO:0005576	extracellular region
GO:0005604	basement membrane
GO:0005615	extracellular space
GO:0030424	axon
GO:0031012	extracellular matrix
GO:0042470	melanosome
GO:0043025	neuronal cell body
GO:0043203	axon hillock
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome