SERPINF1 serpin family F member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINF1provided by HGNC
Official Full Name: serpin family F member 1provided by HGNC
Primary source: HGNC:HGNC:8824
See related: Ensembl:ENSG00000132386 MIM:172860; AllianceGenome:HGNC:8824
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OI6; OI12; PEDF; EPC-1; PIG35
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]
Expression: Broad expression in liver (RPKM 299.4), gall bladder (RPKM 273.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1762060..1777565)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1650754..1666265)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1665354..1680859)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pigment epithelium-derived factor expression and role in follicular development.
Title: Pigment epithelium-derived factor expression and role in follicular development.
Pigment epithelium-derived factor inhibits proliferation, invasion and angiogenesis, and induces ferroptosis of extravillous trophoblasts by targeting Wnt-beta-catenin/VEGF signaling in placenta accreta spectrum.
Title: Pigment epithelium‑derived factor inhibits proliferation, invasion and angiogenesis, and induces ferroptosis of extravillous trophoblasts by targeting Wnt‑β‑catenin/VEGF signaling in placenta accreta spectrum.
Acute-Phase Plasma Pigment Epithelium-Derived Factor Predicting Outcomes after Aneurysmal Subarachnoid Hemorrhage in the Elderly.
Title: Acute-Phase Plasma Pigment Epithelium-Derived Factor Predicting Outcomes after Aneurysmal Subarachnoid Hemorrhage in the Elderly.
Pigment Epithelium-Derived Factor, a Novel Adipokine, Contributes to Gestational Diabetes Mellitus.
Title: Pigment Epithelium-Derived Factor, a Novel Adipokine, Contributes to Gestational Diabetes Mellitus.
Pigment epithelium-derived factor (PEDF) represses the glucose transporter 1 (GLUT1) mRNA expression and may be a potential therapeutic agent in psoriasis: a case-control and experimental study.
Title: Pigment epithelium-derived factor (PEDF) represses the glucose transporter 1 (GLUT1) mRNA expression and may be a potential therapeutic agent in psoriasis: a case-control and experimental study.
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Title: Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Sex differences in serum pigment epithelium-derived factor in healthy individuals.
Title: Sex differences in serum pigment epithelium-derived factor in healthy individuals.
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.
Title: Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.
Roles of pigment epithelium-derived factor in cardiomyocytes: implications for use as a cardioprotective therapeutic.
Title: Roles of pigment epithelium-derived factor in cardiomyocytes: implications for use as a cardioprotective therapeutic.
SERPINF1 Mediates Tumor Progression and Stemness in Glioma.
Title: SERPINF1 Mediates Tumor Progression and Stemness in Glioma.

Submit: New GeneRIF Correction See all GeneRIFs (287)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta type 6 MedGen: C3279564 OMIM: 613982 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31677 (e-PCR)
- UniSTS:3121

D17S1518E (e-PCR)
- UniSTS:151721

D17S1434E (e-PCR)
- UniSTS:150472

G61999 (e-PCR)
- UniSTS:139218

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to cobalt ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in ovulation cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in response to acidic pH	IEA Inferred from Electronic Annotation more info
involved_in response to arsenic-containing substance	IEA Inferred from Electronic Annotation more info
involved_in response to peptide	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in short-term memory	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon hillock	IEA Inferred from Electronic Annotation more info
located_in basement membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pigment epithelium-derived factor

Names: alpha-2 antiplasmin; cell proliferation-inducing gene 35 protein; serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1; serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1; testis tissue sperm-binding protein Li 70n

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028180.1 RefSeqGene

Range

4961..20610

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001329903.2 → NP_001316832.1 pigment epithelium-derived factor isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AC130343, AC130689

Consensus CDS

CCDS11012.1

UniProtKB/Swiss-Prot

F1T092, P36955, Q13236, Q2TU83, Q96CT1, Q96R01, Q9BWA4

UniProtKB/TrEMBL

A0A140VKF3

Conserved Domains (1) summary

cd02052
Location:40 → 415

PEDF; Pigment epithelium-derived factor (PEDF)_like. PEDF is non-inhibitory member of the Serpin superfamily. It exhibits neurotrophic, neuroprotective and antiangiogenic properties and is widely expressed in the developing and adult nervous systems. This ...
NM_001329904.2 → NP_001316833.1 pigment epithelium-derived factor isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks a portion of the 5' UTR and 5' coding region, compared to variant 1, and initiates translation at a downstream start codon. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (2).

Source sequence(s)

AC130343, AC130689
NM_001329905.2 → NP_001316834.1 pigment epithelium-derived factor isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as 012) lacks a portion of the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC130689
NM_002615.7 → NP_002606.3 pigment epithelium-derived factor isoform 1 precursor

See identical proteins and their annotated locations for NP_002606.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform 1).

Source sequence(s)

AY513280, BQ773314, CA405781

Consensus CDS

CCDS11012.1

UniProtKB/Swiss-Prot

F1T092, P36955, Q13236, Q2TU83, Q96CT1, Q96R01, Q9BWA4

UniProtKB/TrEMBL

A0A140VKF3

Related

ENSP00000254722.4, ENST00000254722.9

Conserved Domains (1) summary

cd02052
Location:40 → 415

PEDF; Pigment epithelium-derived factor (PEDF)_like. PEDF is non-inhibitory member of the Serpin superfamily. It exhibits neurotrophic, neuroprotective and antiangiogenic properties and is widely expressed in the developing and adult nervous systems. This ...