Basic Information

Symbol
SERPINF1
RNA class
mRNA
Alias
Serpin Family F Member 1 EPC-1 Pigment Epithelium-Derived Factor PIG35 PEDF Serine (Or Cysteine) Proteinase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1 Cell Proliferation-Inducing Gene 35 Protein Alpha-2 Antiplasmin Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1 Testis Tissue Sperm-Binding Protein Li 70n Proliferation-Inducing Protein 35 Serpin F1 OI12 OI6
Location (GRCh38)
17:1761979-1777627
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002615.7
Sequence length
1438.0 nt
GC content
0.5584

Transcripts

ID Sequence Length GC content
NM_001329903.2 NCBI
GGGGGCCCAGCUGCCAGUGCUGGAGACAAGGGCCGUCCGAGAUGAACCC… 1463 nt 0.5632
NM_001329904.2 NCBI
AGUGUGCAGGCUUAGAGGGACUAGGCUGGGUGUGGAGCUGCAGCGUAUC… 1346 nt 0.5490
NM_001329905.2 NCBI
AGUGCCUGGGGAUGCCAGCAGAAGUCCUGGCAAGUCACAGGAAGAUGCU… 1103 nt 0.5367
NM_002615.7 NCBI
AGUGUGCAGGCUUAGAGGGACUAGGCUGGGUGUGGAGCUGCAGCGUAUC… 1438 nt 0.5584
Summary

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]

Forensic Context

A study in rhesus macaques identified the SERPINF1 as a shared upregulated differentially expressed gene in left ventricular tissue between adult human and rhesus macaque hypertrophic cardiomyopathy [Rivas et al. DOI:10.1038/s41598-024-82770-4].