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Aliases for SERPINF1 Gene

Aliases for SERPINF1 Gene

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

  • 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]

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 Iii. Among its related pathways are Wnt Signaling Pathway and Pluripotency and PEDF Induced Signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINF2.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G001761 1.9 FANTOM5 Ensembl ENCODE dbSUPER 27.8 +1.4 1364 3.4 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 TCF12 ZNF121 GATA2 PAF1 SERPINF1 SMYD4 SERPINF2 RPA1 WDR81 RTN4RL1 SLC43A2 PITPNA PIR54968
GH17G001769 1.5 Ensembl ENCODE dbSUPER 17 +8.8 8759 2.6 FOXA2 ARNT AGO1 ARID4B SIN3A DMAP1 GLIS2 ZNF263 PAF1 SP5 SERPINF1 SMYD4 SERPINF2 PIR54968
GH17G001766 1.4 Ensembl ENCODE dbSUPER 17.8 +4.9 4855 0.8 HDAC1 ELF3 ZFP64 ZNF76 SIN3A RAD21 YY1 GLIS2 ZNF366 DEK SERPINF1 RPA1 METTL16 SERPINF2 TLCD2 TSR1 ENSG00000263050 SMYD4 PIR54968
GH17G001765 1.4 Ensembl ENCODE dbSUPER 16.6 +4.0 3970 0.9 HDAC1 ELF3 PKNOX1 ZNF76 ARID4B SIN3A RAD21 YY1 ZNF366 DEK SERPINF1 RPA1 METTL16 SERPINF2 TSR1 SMYD4 PIR54968
GH17G001782 1.5 Ensembl ENCODE dbSUPER 15.2 +21.4 21373 3.1 HDGF FOXA2 PKNOX1 ATF1 ARID4B SIN3A YY1 ZNF121 SLC30A9 ZNF143 SMYD4 SERPINF1 SERPINF2 RPA1 MIR22HG MIR22 WDR81 TLCD2 PIR53033
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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 Asn285
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SERPINF1 (Serpin F1/PEDF)
  • Cloud-Clone Corp. Antibodies 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

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.

Gene Ontology (GO) - Molecular Function for SERPINF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS 8473338
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SERPINF1: view
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINF1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SERPINF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 12737624
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IDA,IEA 20551380
GO:0030424 axon IEA --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
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:0001822 kidney development IEA --
GO:0007275 multicellular organism development TAS 8473338
GO:0007568 aging IEA --
GO:0007614 short-term memory IEA --
GO:0008283 cell proliferation 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

(16) Drugs for SERPINF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(12) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SERPINF1 Gene



Protein tissue co-expression partners for SERPINF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINF1 Gene:

SERPINF1

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.

Evidence on tissue expression from TISSUES for SERPINF1 Gene

  • Eye(5)
  • Nervous system(4.9)
  • Liver(4.7)
  • Muscle(4.6)
  • Bone marrow(4.2)
  • Skin(3.5)
  • Pancreas(3)
  • Blood(2.7)
  • Bone(2.7)
  • Heart(2.7)
  • Lung(2.7)
  • Gall bladder(2.5)
  • Intestine(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SERPINF1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SERPINF1 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia SERPINF1 34 35
  • 87.46 (n)
cow
(Bos Taurus)
Mammalia SERPINF1 34 35
  • 87.07 (n)
mouse
(Mus musculus)
Mammalia Serpinf1 34 16 35
  • 84.5 (n)
rat
(Rattus norvegicus)
Mammalia Serpinf1 34
  • 83.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINF1 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINF1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINF1 34 35
  • 66.75 (n)
lizard
(Anolis carolinensis)
Reptilia SERPINF1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinf1 34
  • 61.07 (n)
MGC76294 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4797 34
zebrafish
(Danio rerio)
Actinopterygii serpinf1 34 35
  • 49.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spn88Eb 35
  • 21 (a)
ManyToMany
Spn5 35
  • 20 (a)
ManyToMany
Spn27A 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10120 35
  • 21 (a)
ManyToMany
-- 35
  • 18 (a)
ManyToMany
Species where no ortholog for SERPINF1 was found in the sources mined by GeneCards:
  • 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

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
rs193302872 Pathogenic 1,775,110(+) TTCTA(C/G)TTGGA reference, stop-gained
rs193302873 Pathogenic 1,777,321(+) GGCTG(C/T)AGCCT reference, stop-gained
rs398122518 Pathogenic 1,769,885(+) CGCTG(-/GT)GGAGG upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs398122519 Pathogenic 1,762,115(+) CAGGT(-/T)AAAGC upstream-variant-2KB, splice-donor-variant
rs398122520 Pathogenic 1,775,067(+) GTGGG(-/T)AACAA reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv1065585 CNV gain 25217958
nsv1946 CNV insertion 18451855
nsv833335 CNV gain+loss 17160897
nsv9490 CNV loss 18304495

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINF1

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

Disorders for SERPINF1 Gene

MalaCards: The human disease database

(31) 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 6
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
serpinf1-related osteogenesis imperfecta
diabetic macular edema
- 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 22 64
  2. Phenotype and genotype characteristics of age-related macular degeneration in a Japanese population. (PMID: 20132989) Mori K. … Inoue S. (Ophthalmology 2010) 3 22 46 64
  3. Protein kinase C beta (PRKCB1) and pigment epithelium derived factor (PEDF) gene polymorphisms and diabetic retinopathy in a south Indian cohort. (PMID: 20141354) Uthra S. … Kumaramanickavel G. (Ophthalmic Genet. 2010) 3 22 46 64
  4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A. … Hunt D.F. (J. Proteome Res. 2006) 3 4 22 64
  5. Extracellular phosphorylation converts pigment epithelium-derived factor from a neurotrophic to an antiangiogenic factor. (PMID: 15374885) Maik-Rachline G. … Seger R. (Blood 2005) 3 4 22 64

Products for SERPINF1 Gene

Sources for SERPINF1 Gene

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