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Aliases for SERPINF1 Gene

Aliases for SERPINF1 Gene

  • Serpin Family F Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1 2 3
  • Cell Proliferation-Inducing Gene 35 Protein 3 4
  • Sserpin Family F Member 1 2 3
  • Serpin F1 3 4
  • EPC-1 3 4
  • PEDF 3 4
  • Testis Tissue Sperm-Binding Protein Li 70n 3
  • Pigment Epithelium-Derived Factor 2
  • Proliferation-Inducing Protein 35 2
  • PIG35 3
  • OI12 3
  • OI6 3

External Ids for SERPINF1 Gene

Previous HGNC Symbols for SERPINF1 Gene

  • PEDF

Previous GeneCards Identifiers for SERPINF1 Gene

  • GC17P001954
  • GC17P002005
  • GC17P001616
  • GC17P001876
  • GC17P001872
  • GC17P001612
  • GC17P001665

Summaries for SERPINF1 Gene

Entrez Gene Summary for SERPINF1 Gene

  • The protein encoded by this gene is a member of the serpin family, although it does not display the serine protease inhibitory activity shown by many of the other serpin family members. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells.[provided by RefSeq, Mar 2011]

GeneCards Summary for SERPINF1 Gene

SERPINF1 (Serpin Family F Member 1) is a Protein Coding gene. Diseases associated with SERPINF1 include Osteogenesis Imperfecta, Type Vi and Osteogenesis Imperfecta, Type Xii. Among its related pathways are PEDF Induced Signaling and Wnt signaling pathway (KEGG). GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINA11.

UniProtKB/Swiss-Prot for SERPINF1 Gene

  • 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.

Gene Wiki entry for SERPINF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINF1 Gene

Genomics for SERPINF1 Gene

Regulatory Elements for SERPINF1 Gene

Enhancers for SERPINF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SERPINF1 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SERPINF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINF1 Gene

Chromosome:
17
Start:
1,761,959 bp from pter
End:
1,777,574 bp from pter
Size:
15,616 bases
Orientation:
Plus strand

Genomic View for SERPINF1 Gene

Genes around SERPINF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINF1 Gene

Proteins for SERPINF1 Gene

  • Protein details for SERPINF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36955-PEDF_HUMAN
    Recommended name:
    Pigment epithelium-derived factor
    Protein Accession:
    P36955
    Secondary Accessions:
    • F1T092
    • Q13236
    • Q2TU83
    • Q96CT1
    • Q96R01
    • Q9BWA4

    Protein attributes for SERPINF1 Gene

    Size:
    418 amino acids
    Molecular mass:
    46312 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA84914.1; Type=Frameshift; Positions=356; Evidence={ECO:0000305}; Sequence=AAA93524.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPINF1 Gene

neXtProt entry for SERPINF1 Gene

Proteomics data for SERPINF1 Gene at MOPED

Post-translational modifications for SERPINF1 Gene

  • N- and O-glycosylated. O-glycosylated with a core 1 or possibly core 8 glycan.
  • The N-terminus is blocked. Extracellular phosphorylation enhances antiangiogenic activity.
  • Glycosylation at Asn 285
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SERPINF1 (Serpin F1/PEDF)

Protein Products

  • Enzo Life Sciences proteins for SERPINF1
  • Cloud-Clone Corp. Proteins for SERPINF1

No data available for DME Specific Peptides for SERPINF1 Gene

Domains & Families for SERPINF1 Gene

Gene Families for SERPINF1 Gene

Protein Domains for SERPINF1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P36955

UniProtKB/Swiss-Prot:

PEDF_HUMAN :
  • The N-terminal (AA 44-121) exhibits neurite outgrowth-inducing activity. The C-terminal exposed loop (AA 382-418) is essential for serpin activity.
  • Belongs to the serpin family.
Domain:
  • The N-terminal (AA 44-121) exhibits neurite outgrowth-inducing activity. The C-terminal exposed loop (AA 382-418) is essential for serpin activity.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINF1: view

Function for SERPINF1 Gene

Molecular function for SERPINF1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SERPINF1: view

Human Phenotype Ontology for SERPINF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINF1 Gene

MGI Knock Outs for SERPINF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SERPINF1

CRISPR Products

miRNA for SERPINF1 Gene

miRTarBase miRNAs that target SERPINF1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SERPINF1 Gene

Localization for SERPINF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINF1 Gene

Secreted. Melanosome. Note=Enriched in stage I melanosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINF1 Gene COMPARTMENTS Subcellular localization image for SERPINF1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SERPINF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 12737624
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with SERPINF1: view

Pathways & Interactions for SERPINF1 Gene

genes like me logo Genes that share pathways with SERPINF1: view

Pathways by source for SERPINF1 Gene

1 KEGG pathway for SERPINF1 Gene
2 Qiagen pathways for SERPINF1 Gene

Gene Ontology (GO) - Biological Process for SERPINF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development TAS 8473338
GO:0008283 cell proliferation TAS 8473338
GO:0010596 negative regulation of endothelial cell migration IEA --
GO:0010629 negative regulation of gene expression IEA --
GO:0010951 negative regulation of endopeptidase activity TAS 8473338
genes like me logo Genes that share ontologies with SERPINF1: view

No data available for SIGNOR curated interactions for SERPINF1 Gene

Drugs & Compounds for SERPINF1 Gene

(14) Drugs for SERPINF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(14) Additional Compounds for SERPINF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINF1: view

Transcripts for SERPINF1 Gene

Unigene Clusters for SERPINF1 Gene

Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c ^ 11
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - -
SP6: - - - -
SP7:
SP8:
SP9: - -

Relevant External Links for SERPINF1 Gene

GeneLoc Exon Structure for
SERPINF1
ECgene alternative splicing isoforms for
SERPINF1

Expression for SERPINF1 Gene

mRNA expression in normal human tissues for SERPINF1 Gene

Protein differential expression in normal tissues from HIPED for SERPINF1 Gene

This gene is overexpressed in Vitreous humor (49.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINF1 Gene



SOURCE GeneReport for Unigene cluster for SERPINF1 Gene Hs.532768

mRNA Expression by UniProt/SwissProt for SERPINF1 Gene

P36955-PEDF_HUMAN
Tissue specificity: Retinal pigment epithelial cells and blood plasma.
genes like me logo Genes that share expression patterns with SERPINF1: view

Protein tissue co-expression partners for SERPINF1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for SERPINF1 Gene

Orthologs for SERPINF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SERPINF1 35
  • 87.07 (n)
  • 87.95 (a)
SERPINF1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINF1 35
  • 87.46 (n)
  • 91.24 (a)
SERPINF1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinf1 35
  • 84.5 (n)
  • 87.17 (a)
Serpinf1 16
Serpinf1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SERPINF1 35
  • 99.04 (n)
  • 99.28 (a)
SERPINF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpinf1 35
  • 83.78 (n)
  • 84.02 (a)
oppossum
(Monodelphis domestica)
Mammalia SERPINF1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINF1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINF1 35
  • 66.75 (n)
  • 63.29 (a)
SERPINF1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINF1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76294 35
serpinf1 35
  • 61.07 (n)
  • 56.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4797 35
zebrafish
(Danio rerio)
Actinopterygii serpinf1 35
  • 49.96 (n)
  • 41.6 (a)
serpinf1 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Spn27A 36
  • 17 (a)
ManyToMany
Spn5 36
  • 20 (a)
ManyToMany
Spn88Eb 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
ManyToMany
CSA.10120 36
  • 21 (a)
ManyToMany
Species with no ortholog for SERPINF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERPINF1 Gene

ENSEMBL:
Gene Tree for SERPINF1 (if available)
TreeFam:
Gene Tree for SERPINF1 (if available)

Paralogs for SERPINF1 Gene

genes like me logo Genes that share paralogs with SERPINF1: view

Variants for SERPINF1 Gene

Sequence variations from dbSNP and Humsavar for SERPINF1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1136287 - 1,769,982(+) CAGCA(C/T)GAGCC reference, missense
rs1804145 - 1,771,140(+) TGCCC(A/C/G)CCAGA reference, missense
rs6828 -- 1,776,708(+) AGTTA(C/G/T)GAAGG reference, synonymous-codon
rs9809 -- 1,777,378(+) TCTTC(A/G)TACTG reference, missense
rs1804146 -- 1,777,470(+) CAATA(A/C/T)CCTAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SERPINF1 Gene

Variant ID Type Subtype PubMed ID
nsv907511 CNV Loss 21882294
nsv9490 CNV Loss 18304495
dgv3033n71 CNV Loss 21882294
nsv833335 CNV Gain+Loss 17160897
nsv1946 CNV Insertion 18451855
nsv907521 CNV Gain 21882294

Variation tolerance for SERPINF1 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINF1 Gene

Human Gene Mutation Database (HGMD)
SERPINF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINF1 Gene

Disorders for SERPINF1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for SERPINF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type vi
  • osteogenesis imperfecta type vi
osteogenesis imperfecta, type xii
  • osteogenesis imperfecta type xii
osteogenesis imperfecta, type iv
  • oi type iv
osteogenesis imperfecta, type iii
  • oi type iii
serpinf1-related osteogenesis imperfecta
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PEDF_HUMAN
  • 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:0000269 PubMed:21353196}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SERPINF1

Genetic Association Database (GAD)
SERPINF1
Human Genome Epidemiology (HuGE) Navigator
SERPINF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINF1
genes like me logo Genes that share disorders with SERPINF1: view

No data available for Genatlas for SERPINF1 Gene

Publications for SERPINF1 Gene

  1. Pigment epithelium-derived factor: neurotrophic activity and identification as a member of the serine protease inhibitor gene family. (PMID: 8434014) Steele F.R. … Tombran-Tink J. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 23 67
  2. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3
  3. The anti-angiogenic factor PEDF is present in the human heart and is regulated by anoxia in cardiac myocytes and fibroblasts. (PMID: 19298519) Rychli K. … Wojta J. (J. Cell. Mol. Med. 2010) 3 23
  4. Positive association of circulating levels of advanced glycation end products (AGEs) with pigment epithelium-derived factor (PEDF) in a general population. (PMID: 19635565) Yamagishi S. … Takeuchi M. (Pharmacol. Res. 2010) 3 23
  5. Constitutive overexpression of pigment epithelium-derived factor inhibition of ocular melanoma growth and metastasis. (PMID: 19661223) Yang H. … Grossniklaus H.E. (Invest. Ophthalmol. Vis. Sci. 2010) 3 23

Products for SERPINF1 Gene

Sources for SERPINF1 Gene

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