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SERPINB1 serpin family B member 1 [ Homo sapiens (human) ]

Gene ID: 1992, updated on 10-Dec-2024

Summary

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Official Symbol
SERPINB1provided by HGNC
Official Full Name
serpin family B member 1provided by HGNC
Primary source
HGNC:HGNC:3311
See related
Ensembl:ENSG00000021355 MIM:130135; AllianceGenome:HGNC:3311
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
EI; LEI; PI2; MNEI; PI-2; HEL57; M/NEI; ELANH2; HEL-S-27
Summary
The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression
Broad expression in esophagus (RPKM 214.3), bone marrow (RPKM 155.6) and 15 other tissues See more
Orthologs
all
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Genomic context

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See SERPINB1 in Genome Data Viewer
Location:
6p25.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (2832332..2841863, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2698484..2708154, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2832566..2842097, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene myosin light chain kinase family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16831 Neighboring gene WRN helicase interacting protein 1 Neighboring gene uncharacterized LOC124901241 Neighboring gene Sharpr-MPRA regulatory region 6984 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:2798034-2798138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:2802330-2802830 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:2809907-2811106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16832 Neighboring gene Sharpr-MPRA regulatory region 12426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23873 Neighboring gene nonconserved acetylation island sequence 71 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23876 Neighboring gene serpin family B member 9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23879 Neighboring gene microRNA 4645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2869952-2870526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:2875298-2876239

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia. Duplomb L, et al. J Mol Med (Berl), 2019 May. PMID 30843084
  2. Serine protease inhibitor (SERPIN) B1 suppresses cell migration and invasion in glioma cells. Huasong G, et al. Brain Res, 2015 Mar 10. PMID 24968089
  3. Comparative proteome analysis of peripheral neutrophils from sulfur mustard-exposed and COPD patients. Shahriary A, et al. J Immunotoxicol, 2015 Apr-Jun. PMID 24852194
  4. Decreased expression of SERPINB1 correlates with tumor invasion and poor prognosis in hepatocellular carcinoma. Cui X, et al. J Mol Histol, 2014 Feb. PMID 24105272
  5. SERPINB1 expression is predictive for sensitivity and outcome of cisplatin-based chemotherapy in melanoma. Willmes C, et al. Oncotarget, 2016 Mar 1. PMID 26799424, Free PMC Article

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A proteomic analysis of NETosis in trauma: Emergence of serpinB1 as a key player.
    Title: A proteomic analysis of NETosis in trauma: Emergence of serpinB1 as a key player.
  2. SERPINB1 overexpression protects myocardial damage induced by acute myocardial infarction through AMPK/mTOR pathway.
    Title: SERPINB1 overexpression protects myocardial damage induced by acute myocardial infarction through AMPK/mTOR pathway.
  3. A Novel SERPINB1 Single-Nucleotide Polymorphism Associated With Glycemic Control and beta-Cell Function in Egyptian Type 2 Diabetic Patients.
    Title: A Novel SERPINB1 Single-Nucleotide Polymorphism Associated With Glycemic Control and β-Cell Function in Egyptian Type 2 Diabetic Patients.
  4. A striking decrease in the expression of SERPINB1 gene, which encodes a critical component of neutrophil survival, was detected in Cohen syndrome neutrophils.
    Title: Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
  5. Analysis of The Cancer Genome Atlas and pyrosequencing demonstrate hypermethylation of the SERPINB1 promoter in prostate cancer compared with normal tissue, and the extent of promoter methylation negatively correlates with SERPINB1 mRNA expression.
    Title: Epigenetic Suppression of SERPINB1 Promotes Inflammation-Mediated Prostate Cancer Progression.
  6. This study demonstrated that female-specific role for SERPINB1 in amyloidosis.
    Title: Sex-specific genetic predictors of Alzheimer's disease biomarkers.
  7. Results indicate that serpin family B member 1 (SERPINB1) acts as a vital gatekeeper of inflammation by restraining neutrophil serine proteases and inflammatory caspases in a genetically and functionally separable manner.
    Title: SERPINB1-mediated checkpoint of inflammatory caspase activation.
  8. The expression of SERPINB1 was approximately 2-fold higher in apical periodontitis. SERPINB1 expression was noted in neutrophils and epithelial cells.
    Title: Proteomic Profiling and Differential Messenger RNA Expression Correlate HSP27 and Serpin Family B Member 1 to Apical Periodontitis Outcomes.
  9. SERPINB1 decreased inflammation, ameliorated oxidative stress in the lung, and attenuated acute lung injury in rats with orthotopic autologous liver transplantation by activating HO-1 and it does so through STAT3
    Title: SERPINB1 ameliorates acute lung injury in liver transplantation through ERK1/2-mediated STAT3-dependent HO-1 induction.
  10. a relatively low Serpinb1a protein threshold in neutrophils that is required for sustained survival
    Title: Myeloid conditional deletion and transgenic models reveal a threshold for the neutrophil survival factor Serpinb1.
Submit: New GeneRIF Correction See all GeneRIFs (25)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables peptidase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
enables serine-type endopeptidase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of interleukin-1 beta production IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in type B pancreatic cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in cytolytic granule IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
leukocyte elastase inhibitor
Names
epididymis luminal protein 57
epididymis secretory protein Li 27
peptidase inhibitor 2
protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1
serpin peptidase inhibitor, clade B (ovalbumin), member 1

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_030666.4 → NP_109591.1  leukocyte elastase inhibitor

    See identical proteins and their annotated locations for NP_109591.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AK309765, AW451326, BC009015, BM785367, BM823453
    Consensus CDS
    CCDS4477.1
    UniProtKB/Swiss-Prot
    A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
    UniProtKB/TrEMBL
    B4E3A8, V9HWH1
    Related
    ENSP00000370115.5, ENST00000380739.6
    Conserved Domains (1) summary
    cl00137
    Location:4 → 379
    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 ...

RNA

  1. NR_073111.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK298044, AK309765, AW451326, BM785367, BM823453

  2. NR_073112.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK309765, AW451326, BC009015, BI521531, BM785367, BM823453, BU942473

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    2832332..2841863 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514335.3 → XP_011512637.1  leukocyte elastase inhibitor isoform X2

    UniProtKB/TrEMBL
    B4E3A8
    Conserved Domains (1) summary
    cl00137
    Location:7 → 330
    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. XM_011514333.2 → XP_011512635.1  leukocyte elastase inhibitor isoform X1

    See identical proteins and their annotated locations for XP_011512635.1

    UniProtKB/Swiss-Prot
    A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
    UniProtKB/TrEMBL
    B4E3A8, V9HWH1
    Conserved Domains (1) summary
    cl00137
    Location:4 → 379
    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 ...

  3. XM_047418269.1 → XP_047274225.1  leukocyte elastase inhibitor isoform X2

    UniProtKB/TrEMBL
    B4E3A8

  4. XM_011514334.3 → XP_011512636.1  leukocyte elastase inhibitor isoform X1

    See identical proteins and their annotated locations for XP_011512636.1

    UniProtKB/Swiss-Prot
    A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
    UniProtKB/TrEMBL
    B4E3A8, V9HWH1
    Conserved Domains (1) summary
    cl00137
    Location:4 → 379
    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    2698484..2708154 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354430.1 → XP_054210405.1  leukocyte elastase inhibitor isoform X1

    UniProtKB/Swiss-Prot
    A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
    UniProtKB/TrEMBL
    B4E3A8, V9HWH1

  2. XM_054354432.1 → XP_054210407.1  leukocyte elastase inhibitor isoform X2

    UniProtKB/TrEMBL
    B4E3A8

  3. XM_054354429.1 → XP_054210404.1  leukocyte elastase inhibitor isoform X1

    UniProtKB/Swiss-Prot
    A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
    UniProtKB/TrEMBL
    B4E3A8, V9HWH1

  4. XM_054354431.1 → XP_054210406.1  leukocyte elastase inhibitor isoform X2

    UniProtKB/TrEMBL
    B4E3A8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P30740.1 GenPept UniProtKB/Swiss-Prot:P30740

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