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

Gene ID: 647174, updated on 5-Mar-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 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 endopeptidase activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
13q14.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51339691..51364735)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (50554612..50579655)
105.20220307 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)

Genotypes

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_2023_10

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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