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

Gene ID: 1992, updated on 2-Nov-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
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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 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)

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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_030666.4NP_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

  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
    V9HWH1
  2. XM_054354432.1XP_054210407.1  leukocyte elastase inhibitor isoform X2

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

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