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    SERPINE3 serpin family E member 3 [ Homo sapiens (human) ]

    Gene ID: 647174, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SERPINE3provided by HGNC
    Official Full Name
    serpin family E member 3provided by HGNC
    Primary source
    HGNC:HGNC:24774
    See related
    Ensembl:ENSG00000253309 MIM:620989; AllianceGenome:HGNC:24774
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SERPINE3 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51339691..51364735)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (50554612..50579655)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51913827..51938871)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984554 Neighboring gene PRELI domain containing 3B pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51795682-51796472 Neighboring gene family with sequence similarity 124 member A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51817288-51817877 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51817878-51818466 Neighboring gene Sharpr-MPRA regulatory region 8165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51832547-51833096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51833097-51833644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51837267-51837785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51854236-51854892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51854893-51855548 Neighboring gene Sharpr-MPRA regulatory region 8155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51902755-51903254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7772 Neighboring gene integrator complex subunit 6 Neighboring gene microRNA 5693 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:51944817-51945316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5374 Neighboring gene INTS6 antisense RNA 1 Neighboring gene ribosomal protein S4X pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Vision-related convergent gene losses reveal SERPINE3's unknown role in the eye. Indrischek H, et al. Elife, 2022 Jun 21. PMID 35727138, Free PMC Article
    2. A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. López S, et al. Mitochondrion, 2014 Sep. PMID 25240745
    3. Update of the human and mouse SERPIN gene superfamily. Heit C, et al. Hum Genomics, 2013 Oct 30. PMID 24172014, Free PMC Article
    4. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Vision-related convergent gene losses reveal SERPINE3's unknown role in the eye.
      Title: Vision-related convergent gene losses reveal SERPINE3's unknown role in the eye.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serpin E3
    Names
    nexin-related serine protease inhibitor
    serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3

    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.

    mRNA and Protein(s)

    1. NM_001101320.1 → NP_001094790.1  serpin E3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001094790.1

      Status: VALIDATED

      Source sequence(s)
      AL137780
      Consensus CDS
      CCDS53870.1
      UniProtKB/Swiss-Prot
      A8MV23, B1V8P3
      Related
      ENSP00000428316.1, ENST00000521255.5
      Conserved Domains (1) summary
      cd00172
      Location:31 → 399
      SERPIN; SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate ...

    2. NM_001386375.1 → NP_001373304.1  serpin E3 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AL137780
      Consensus CDS
      CCDS91808.1
      Related
      ENSP00000506411.1, ENST00000681248.1
      Conserved Domains (1) summary
      cd19574
      Location:18 → 402
      serpinE3; serpin family E member 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      51339691..51364735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430545.1 → XP_047286501.1  serpin E3 isoform X1

      UniProtKB/Swiss-Prot
      A8MV23, B1V8P3

    2. XM_047430544.1 → XP_047286500.1  serpin E3 isoform X1

      UniProtKB/Swiss-Prot
      A8MV23, B1V8P3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      50554612..50579655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374864.1 → XP_054230839.1  serpin E3 isoform X1

      UniProtKB/Swiss-Prot
      A8MV23, B1V8P3

    2. XM_054374863.1 → XP_054230838.1  serpin E3 isoform X1

      UniProtKB/Swiss-Prot
      A8MV23, B1V8P3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MV23.2 GenPept UniProtKB/Swiss-Prot:A8MV23

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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