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

    Gene ID: 1992, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    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)

    NEW Try the new Transcript table

    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
      A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
      UniProtKB/TrEMBL
      B4E3A8, V9HWH1
      Related
      ENSP00000370115.5, ENST00000380739.6
      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_073111.2 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_011514335.3XP_011512637.1  leukocyte elastase inhibitor isoform X2

      UniProtKB/TrEMBL
      B4E3A8
      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 ...
    2. XM_011514333.2XP_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: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 ...
    3. XM_047418269.1XP_047274225.1  leukocyte elastase inhibitor isoform X2

      UniProtKB/TrEMBL
      B4E3A8
    4. XM_011514334.3XP_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: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 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_054354430.1XP_054210405.1  leukocyte elastase inhibitor isoform X1

      UniProtKB/Swiss-Prot
      A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
      UniProtKB/TrEMBL
      B4E3A8, V9HWH1
    2. XM_054354432.1XP_054210407.1  leukocyte elastase inhibitor isoform X2

      UniProtKB/TrEMBL
      B4E3A8
    3. XM_054354429.1XP_054210404.1  leukocyte elastase inhibitor isoform X1

      UniProtKB/Swiss-Prot
      A8K5L2, B4DNT0, P30740, Q53FB9, Q5W0E1, Q9UDF8
      UniProtKB/TrEMBL
      B4E3A8, V9HWH1
    4. XM_054354431.1XP_054210406.1  leukocyte elastase inhibitor isoform X2

      UniProtKB/TrEMBL
      B4E3A8