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

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
This study demonstrated that female-specific role for SERPINB1 in amyloidosis.
Title: Sex-specific genetic predictors of Alzheimer's disease biomarkers.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34164 (e-PCR)
- UniSTS:17165

GDB:435254 (e-PCR)
- UniSTS:157217

RH17753 (e-PCR)
- UniSTS:52269

RH35877 (e-PCR)
- UniSTS:47167

D10S16 (e-PCR)
- UniSTS:155756

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 more info	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 more info	PubMed
located_in extracellular region	HDA more info	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 more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	HDA more info	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)

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

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
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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

2832332..2841863 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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