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

    Gene ID: 1992, updated on 11-Sep-2016
    Official Symbol
    SERPINB1provided by HGNC
    Official Full Name
    serpin family B member 1provided by HGNC
    Primary source
    HGNC:HGNC:3311
    See related
    Ensembl:ENSG00000021355 HPRD:00555; MIM:130135; Vega:OTTHUMG00000014124
    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]
    Orthologs
    Location:
    6p25
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105374885 Neighboring gene long intergenic non-protein coding RNA 1600 Neighboring gene myosin light chain kinase family member 4 Neighboring gene Werner helicase interacting protein 1 Neighboring gene serpin family B member 9 pseudogene 1 Neighboring gene microRNA 4645

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    serine-type endopeptidase inhibitor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_030666.3NP_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, OTTHUMP00000015943, ENST00000380739, OTTHUMT00000039637
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011514333.1XP_011512635.1  

      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  

      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  

      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      2835084..2844765 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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