Format

Send to:

Choose Destination

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

Gene ID: 1992, updated on 9-Dec-2018

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
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

Genomic context

See SERPINB1 in Genome Data Viewer
Location:
6p25.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (2832332..2842049, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (2832566..2842283, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1600 Neighboring gene long intergenic non-protein coding RNA 2521 Neighboring gene myosin light chain kinase family member 4 Neighboring gene Werner helicase interacting protein 1 Neighboring gene nonconserved acetylation island sequence 71 enhancer Neighboring gene serpin family B member 9 pseudogene 1 Neighboring gene microRNA 4645

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 

General protein information

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)

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_030666.4NP_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
    P30740
    UniProtKB/TrEMBL
    V9HWH1
    Related
    ENSP00000370115.5, ENST00000380739.5
    Conserved Domains (1) summary
    cl00137
    Location:4379
    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_073111.1 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_073112.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    2832332..2842049 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514333.1XP_011512635.1  leukocyte elastase inhibitor isoform X1

    See identical proteins and their annotated locations for XP_011512635.1

    UniProtKB/Swiss-Prot
    P30740
    UniProtKB/TrEMBL
    V9HWH1
    Conserved Domains (1) summary
    cl00137
    Location:4379
    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_011514335.2XP_011512637.1  leukocyte elastase inhibitor isoform X2

    Conserved Domains (1) summary
    cl00137
    Location:7330
    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_011514334.2XP_011512636.1  leukocyte elastase inhibitor isoform X1

    See identical proteins and their annotated locations for XP_011512636.1

    UniProtKB/Swiss-Prot
    P30740
    UniProtKB/TrEMBL
    V9HWH1
    Conserved Domains (1) summary
    cl00137
    Location:4379
    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 ...
Support Center