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

Gene ID: 647174, updated on 26-Oct-2022

Summary

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
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Genomic context

Location:
13q14.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (51339691..51364735)
110 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 family with sequence similarity 124 member A Neighboring gene integrator complex subunit 6 Neighboring gene microRNA 5693 Neighboring gene INTS6 antisense RNA 1 Neighboring gene ribosomal protein S4X pseudogene 16

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

Phenotypes

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

General gene information

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
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001101320.1NP_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:31399
    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_001386375.1NP_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:18402
    serpinE3; serpin family E member 3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047430545.1XP_047286501.1  serpin E3 isoform X1

    UniProtKB/Swiss-Prot
    B1V8P3
  2. XM_047430544.1XP_047286500.1  serpin E3 isoform X1

    UniProtKB/Swiss-Prot
    B1V8P3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

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