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

    Gene ID: 5176, updated on 17-Jun-2024

    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
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    Genomic context

    See SERPINF1 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1762060..1777565)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1650754..1666265)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1665354..1680859)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1619651-1620292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1627561-1628061 Neighboring gene WD repeat domain 81 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1638655-1639172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1639173-1639688 Neighboring gene Sharpr-MPRA regulatory region 4635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1655564-1656124 Neighboring gene serpin family F member 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1665693-1666545 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1666546-1667398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11457 Neighboring gene Sharpr-MPRA regulatory region 4981 Neighboring gene SET and MYND domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 13179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1734195-1734695 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    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)

    NEW Try the new Transcript table

    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_001329903.2NP_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: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_001329904.2NP_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_001329905.2NP_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_002615.7NP_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: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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      1762060..1777565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187611.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      190882..195947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004837577.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      1650754..1666265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)