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

Gene ID: 5176, updated on 3-Oct-2018

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; Vega:OTTHUMG00000090571
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

Genomic context

See SERPINF1 in Genome Data Viewer
Location:
17p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (1761925..1777574)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1665259..1680859)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene WD repeat domain 81 Neighboring gene serpin family F member 2 Neighboring gene SET and MYND domain containing 4 Neighboring gene replication protein A1 Neighboring gene succinate dehydrogenase complex subunit C pseudogene

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog

Pathways from BioSystems

  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
cellular response to cobalt ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron death IEA
Inferred from Electronic Annotation
more info
 
ovulation cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
response to acidic pH IEA
Inferred from Electronic Annotation
more info
 
response to arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
short-term memory IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon hillock IEA
Inferred from Electronic Annotation
more info
 
basement membrane IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_028180.1 RefSeqGene

    Range
    4961..20610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329903.1NP_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
    P36955
    UniProtKB/TrEMBL
    A0A140VKF3
    Conserved Domains (1) summary
    cd02052
    Location:40415
    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 ...
  2. NM_001329904.1NP_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
  3. NM_001329905.1NP_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
  4. NM_002615.6NP_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)
    AC130343, AY513280, BQ773314, CA405781
    Consensus CDS
    CCDS11012.1
    UniProtKB/Swiss-Prot
    P36955
    UniProtKB/TrEMBL
    A0A140VKF3
    Related
    ENSP00000254722.4, OTTHUMP00000115682, ENST00000254722.8, OTTHUMT00000207109
    Conserved Domains (1) summary
    cd02052
    Location:40415
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    1761925..1777574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    190874..195944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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