1. Gene
  2. SERPINF1 - serpin family F member 1 Gene

SERPINF1 - serpin family F member 1 Gene

Homo sapiens

Also known as OI6; OI12; PEDF; EPC-1; PIG35

Gene ID: 5176 | Gene type: protein coding

About SERPINF1

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,762,060-1,777,565 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 200 orthologues, 36 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 299.4), gall bladder (RPKM 273.5) and 21 other tissues.

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]

SERPINF1 Products(4)

mRNA Protein Name
NM_001329903.2 NP_001316832.1 pigment epithelium-derived factor isoform 1 precursor
NM_001329904.2 NP_001316833.1 pigment epithelium-derived factor isoform 2
NM_001329905.2 NP_001316834.1 pigment epithelium-derived factor isoform 2
NM_002615.7 NP_002606.3 pigment epithelium-derived factor isoform 1 precursor

SERPINF1 Protein Structure

Serpin

Serpin: Serpin (serine protease inhibitor) (57 - 415)

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
Protein Preferred Names Protein Names

pigment epithelium-derived factor

alpha-2 antiplasmin

Recombinant SERPINF1 Proteins

Cat. No. Product Name Accession Purity
HY-P7054 PEDF Protein, Human P36955 (Q20-P418) ≥95%
HY-P70498 Serpin F1 Protein, Human (HEK293, His) P36955 (Q20-P418) ≥95%
HY-P70498A Serpin F1 Protein, Human (HEK293, N-His) P36955 (Q20-P418) ≥95%

Related Diseases

Diseases Alias
Osteogenesis Imperfecta, Type Vi

OI6

Osteogenesis Imperfecta Type 6

Osteogenesis Imperfecta Type Vi

Oi Type Vi

Oi Type 6

Osteogenesis Imperfecta Type

Serpinfi- Related Osteogenesis Imperfecta

Osteogenesis Imperfecta 6

Oi-Vi

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv

Diabetic Macular Edema
Corneal Neovascularization

Corneal Neovascularisation

Corneal Vascularisation

Extensive Superficial Corneal Vascularisation

Microvascular Complications Of Diabetes 1

Proliferative Diabetic Retinopathy

Microvascular Complications Of Diabetes, Susceptibility To, 1

MVCD1

Diabetic Nephropathy

Non-Proliferative Diabetic Retinopathy

Nonproliferative Diabetic Retinopathy

Proliferative Retinopathy, Diabetic

Proliferative Retinopathy, Diabetic, Susceptibility To

Nonproliferative Retinopathy, Diabetic

Nonproliferative Retinopathy, Diabetic, Susceptibility To

Pdr

Diabetic End-Stage Renal Disease

Diabetic Neuropathy

Diabetic Neuropathies

Complications Of Diabetes Mellitus

Diabetes Mellitus, Independent Of Type With Proliferative Retinopathy

Macular Retinal Edema

Macular Edema

Macular Oedema

Macular Retinal Oedema

Macular Edema, Cystoid

Macular Holes

Macular Hole

Retinal Vascular Disease

Retinal Vascular

Retinal Vascular Disorder

Retina Circulation Disorder

Microvascular Complications Of Diabetes 5

Diabetic Retinopathy

Microvascular Complications Of Diabetes, Susceptibility To, 5

MVCD5

Retinopathy, Diabetic

Diabetic Nephropathy

Retinopathy, Diabetic, Susceptibility To

Retinal Abnormality - Diabetes-Related

Leukostasis
Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Senile Cataract
Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Retinal Vein Occlusion

Occlusion, Of Retinal Vein

Dentinogenesis Imperfecta

Hereditary Opalescent Dentin

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta

Dgi

Capdepont Teeth

Dgi Without Oi

Di

Non-Syndromic Dgi

Non-Syndromic Dentinogenesis Imperfecta

Opalescent Teeth Without Oi

Opalescent Teeth Without Osteogenesis Imperfecta

Opalescent Dentin

Uveitis
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Otosclerosis

Otospongiosis

Cataract 23, Multiple Types

Cataract 23

CTRCT23

Lamellar Cataract 23

Cataract 23, Multiple Types, With Or Without Microcornea

Isolated Microphthalmia With Cataract 4

Mcopct4

Cataract, Type 23

Microphthalmia, Isolated, With Cataract 4

Retinal Degeneration

Degeneration Of Retina

Central Serous Chorioretinopathy

Central Serous Chorioretinopathy After Bone Marrow Transplantation

Central Serous Choroidopathy

Cscr

Central Serous Retinopathy

Central Serous Choroidoretinopathy

Coronary Thrombosis

Coronary Artery Thrombosis

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Night Blindness, Congenital Stationary, Type 1a

Congenital Stationary Night Blindness 1a

CSNB1A

Hemeralopia-Myopia

Myopia-Night Blindness

Night Blindness, Congenital Stationary , 1a, X-Linked

Congenital Stationary Night Blindness With Myopia

Csnb, Complete, X-Linked

Night Blindness, Congenital Stationary, With Myopia

Nbm1

Complete Csnb X-Linked

Congenital Stationary Night Blindness 1a X-Linked

Nbmi

Night Blindness, Congenital Stationary, 1a

Complete X-Linked Csnb

Nyctalopia

Xlcsnb

X-Linked Congenital Stationary Night Blindness

Blindness, Night, Stationary, Congenital, Type 1a

Night Blindness

X-Linked Csnb

Night Blindness, Congenital Stationary, Type 2a

Retinitis Pigmentosa 50

RP50

Retinitis Pigmentosa, Concentric

Retinitis Pigmentosa-50

Retinitis Pigmentosa Concentric

Lymphangioma

Lymphatic Malformation

Lymphatic Malformations

Benign Lymphangioma

Congenital Lymphangioma

Lymphangiomas

Choroideremia

CHM

Tcd

Progressive Tapetochoroidal Dystrophy

Choroidal Sclerosis

Tapetochoroidal Dystrophy, Progressive

Progressive Choroidal Atrophy

Tapetochoroidal Dystrophy

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Cole-Carpenter Syndrome

Cole Carpenter Syndrome

Bone Fragility Craniosynostosis Proptosis Hydrocephalus

Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features

Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Kuhnt-Junius Degeneration

Neovascular Age-Related Macular Degeneration

Exudative Senile Macular Degeneration Of Retina

Senile Macular Degeneration, Wet

Wet Senile Macular Retinal Degeneration

Exudative Age-Related Macular Degeneration

Exudative Macular Degeneration

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina

Intraocular Pressure Quantitative Trait Locus

Glaucoma

IOPQTL

Glaucoma, Susceptibility To

Postinfectious Glaucoma

Glaucoma With Ocular Inflammation

Glaucoma Secondary To Eye Inflammation

Traumatic Glaucoma

Glaucoma With Concussion Of Globe

Glaucoma Due To Ocular Trauma

Glaucoma Associated With Ocular Trauma

Glaucoma Secondary To Drugs

Retinal Vascular Occlusion

Retinal Vasc. Occlusion

Occlusion Of Retinal Vessels

Retinal Obstruction

Bone Development Disease
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I

OI1

Oi, Type I

Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta With Blue Sclerae

Osteogenesis Imperfecta Type 1

Adair-Dighton Syndrome

Mild Osteogenesis Imperfecta

Non-Deforming Osteogenesis Imperfecta

Oi Type 1

Van Der Hoeve Syndrome

Classic Non-Deforming Oi With Blue Sclerae

Osteogenesis Imperfecta 1

Oi-I

Osteopenic Non-Fracture Syndrome

Osteogenesis Imperfecta, Mild

Osteogenesis Imperfecta

Lobstein'S Disease

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SERPINF1 VGNC VGNC:46039
Mus musculus SERPINF1 MGD MGI:108080
Felis catus SERPINF1 VGNC VGNC:68782
Bos taurus SERPINF1 VGNC VGNC:34478
Rattus norvegicus SERPINF1 RGD RGD:631369
Macaca mulatta SERPINF1 VGNC VGNC:99254
Others SERPINF1 NCBI