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
|
|
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 |
|
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
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0004867
|
serine-type endopeptidase inhibitor activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR023796
Serpin domain
|
PFAM |
PF00079
|
PRINTS |
|
PIRSF |
|
SMART |
SM00093
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P36955
|
PhosphoSite |
PhosphoSite-P36955
|
TrEMBL |
I3L4F9
|
UniProt Splice Variant |
|
Entrez Gene |
5176
|
UniGene |
|
RefSeq |
NP_002606
|
HUGO |
HGNC:8824
|
OMIM |
172860
|
CCDS |
CCDS11012
|
HPRD |
01408
|
IMGT |
|
EMBL |
AB593011
AB593012
AB593013
AC130343
AC130689
AF400442
AH004879
AY513280
BC000522
BC013984
BT007222
CH471108
M76979
M90439
U29953
|
GenPept |
AAA60058
AAA84914
AAA93524
AAB38685
AAH00522
AAH13984
AAK92491
AAP35886
AAT08033
BAJ83966
BAJ83967
BAJ83968
EAW90577
|
|
|