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Aliases for SERPINB1 Gene

Aliases for SERPINB1 Gene

  • Serpin Family B Member 1 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade B (Ovalbumin), Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade B (Ovalbumin), Member 1 2 3
  • Peptidase Inhibitor 2 3 4
  • ELANH2 3 4
  • M/NEI 3 4
  • MNEI 3 4
  • PI-2 3 4
  • LEI 3 4
  • PI2 3 4
  • EI 3 4
  • Protease Inhibitor 2 (Anti-Elastase), Monocyte/Neutrophil Derived 3
  • Monocyte/Neutrophil Elastase Inhibitor 4
  • Epididymis Secretory Protein Li 27 3
  • Epididymis Luminal Protein 57 3
  • Leukocyte Elastase Inhibitor 3
  • Serpin B1 4
  • HEL-S-27 3
  • HEL57 3

External Ids for SERPINB1 Gene

Previous HGNC Symbols for SERPINB1 Gene

  • ELANH2

Previous GeneCards Identifiers for SERPINB1 Gene

  • GC06M002817
  • GC06M002778
  • GC06M002707

Summaries for SERPINB1 Gene

Entrez Gene Summary for SERPINB1 Gene

  • 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]

GeneCards Summary for SERPINB1 Gene

SERPINB1 (Serpin Family B Member 1) is a Protein Coding gene. Diseases associated with SERPINB1 include Pulmonary Emphysema and Impetigo Herpetiformis. Among its related pathways are Immune System and Amoebiasis. GO annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB9.

UniProtKB/Swiss-Prot for SERPINB1 Gene

  • Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3. Also functions as a potent intracellular inhibitor of granzyme H.

Gene Wiki entry for SERPINB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINB1 Gene

Genomics for SERPINB1 Gene

Regulatory Elements for SERPINB1 Gene

Enhancers for SERPINB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F002788 1.6 FANTOM5 Ensembl ENCODE 23.4 +47.2 47202 12.0 ATF1 PKNOX1 ARID4B DMAP1 ZNF48 GATA2 ZNF143 FOS DEK ZNF263 SERPINB9 SERPINB1 MYLK4 NQO2 WRNIP1 ENSG00000232999 LINC01011 SERPINB6 RIPK1 GC06P002811
GH06F002864 1.5 FANTOM5 Ensembl ENCODE 22.7 -23.9 -23896 2.3 ELF3 PKNOX1 ATF1 RARA JUNB TBX21 TGIF2 SP1 NFIL3 IKZF1 SERPINB9 SERPINB1 ENSG00000232999 LINC01011 NQO2 SERPINB9P1 RIPK1 PIR43328 PIR60730
GH06F002874 1.7 FANTOM5 Ensembl ENCODE 19.9 -36.0 -36046 7.9 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS SP5 SERPINB9P1 SERPINB9 SERPINB1 ENSG00000232999 NQO2 SERPINB6 LOC105374891 LINC01011 PSMG4 MYLK4
GH06F002951 1.7 FANTOM5 Ensembl ENCODE 19.7 -110.4 -110425 2.1 HDGF ATF1 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SERPINB9 SERPINB6 SERPINB1 NQO2 LINC01011 ENSG00000232999 ENSG00000228170 PSMG4 MYLK4 ENSG00000270504
GH06F002816 1.4 FANTOM5 Ensembl ENCODE 19.3 +23.0 22995 4.4 TBP PKNOX1 DNMT3B RARA SMARCC2 CEBPB PPARG NR2F2 KAT8 NFIL3 SERPINB1 SERPINB9 ENSG00000232999 LOC105374891 MYLK4 PSMG4 GC06P002818
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SERPINB1 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001209090 549 1801 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF766
ENSR00001877511 1849 401 HLF MXD3

Genomic Location for SERPINB1 Gene

Chromosome:
6
Start:
2,832,332 bp from pter
End:
2,842,049 bp from pter
Size:
9,718 bases
Orientation:
Minus strand

Genomic View for SERPINB1 Gene

Genes around SERPINB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINB1 Gene

Proteins for SERPINB1 Gene

  • Protein details for SERPINB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30740-ILEU_HUMAN
    Recommended name:
    Leukocyte elastase inhibitor
    Protein Accession:
    P30740
    Secondary Accessions:
    • A8K5L2
    • B4DNT0
    • Q53FB9
    • Q5W0E1
    • Q9UDF8

    Protein attributes for SERPINB1 Gene

    Size:
    379 amino acids
    Molecular mass:
    42742 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAD97090.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPINB1 Gene

    Alternative splice isoforms for SERPINB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINB1 Gene

Post-translational modifications for SERPINB1 Gene

  • Ubiquitination at Lys 177 and Lys 196
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINB1 Gene

No data available for DME Specific Peptides for SERPINB1 Gene

Domains & Families for SERPINB1 Gene

Gene Families for SERPINB1 Gene

Protein Domains for SERPINB1 Gene

Graphical View of Domain Structure for InterPro Entry

P30740

UniProtKB/Swiss-Prot:

ILEU_HUMAN :
  • Reactive bond 1 is specific for reaction with chymotrypsin-like protease such as cathepsin G, chymotrypsin, chymase or granzyme H, while reactive bond 2 is specific for reaction with elastase-like protease such as neutrophil elastase, proteinase-3, pancreatic elastase or PSA.
  • Belongs to the serpin family. Ov-serpin subfamily.
Domain:
  • Reactive bond 1 is specific for reaction with chymotrypsin-like protease such as cathepsin G, chymotrypsin, chymase or granzyme H, while reactive bond 2 is specific for reaction with elastase-like protease such as neutrophil elastase, proteinase-3, pancreatic elastase or PSA.
Family:
  • Belongs to the serpin family. Ov-serpin subfamily.
genes like me logo Genes that share domains with SERPINB1: view

Function for SERPINB1 Gene

Molecular function for SERPINB1 Gene

UniProtKB/Swiss-Prot Function:
Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3. Also functions as a potent intracellular inhibitor of granzyme H.

Gene Ontology (GO) - Molecular Function for SERPINB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity NAS 1376927
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINB1: view
genes like me logo Genes that share phenotypes with SERPINB1: view

Animal Models for SERPINB1 Gene

MGI Knock Outs for SERPINB1:

Animal Model Products

miRNA for SERPINB1 Gene

miRTarBase miRNAs that target SERPINB1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SERPINB1 Gene

Localization for SERPINB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINB1 Gene

Cytoplasm. Cytoplasmic granule.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINB1 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 3
mitochondrion 2
lysosome 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SERPINB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SERPINB1: view

Pathways & Interactions for SERPINB1 Gene

SuperPathways for SERPINB1 Gene

SuperPathway Contained pathways
1 Immune System
2 Amoebiasis
genes like me logo Genes that share pathways with SERPINB1: view

Pathways by source for SERPINB1 Gene

2 Reactome pathways for SERPINB1 Gene
1 KEGG pathway for SERPINB1 Gene

Gene Ontology (GO) - Biological Process for SERPINB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with SERPINB1: view

No data available for SIGNOR curated interactions for SERPINB1 Gene

Drugs & Compounds for SERPINB1 Gene

(4) Drugs for SERPINB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SERPINB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINB1: view

Transcripts for SERPINB1 Gene

Unigene Clusters for SERPINB1 Gene

Serpin peptidase inhibitor, clade B (ovalbumin), member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINB1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ·
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - - - - - -
SP7:
SP8: - - - - - - - - - -
SP9: - - - - -
SP10: - -
SP11:
SP12:
SP13: -
SP14: - - -

ExUns: 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13:
SP14:

Relevant External Links for SERPINB1 Gene

GeneLoc Exon Structure for
SERPINB1
ECgene alternative splicing isoforms for
SERPINB1

Expression for SERPINB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPINB1 Gene

This gene is overexpressed in Whole Blood (x14.2), Esophagus - Mucosa (x8.3), and Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for SERPINB1 Gene

This gene is overexpressed in Neutrophil (24.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINB1 Gene



Protein tissue co-expression partners for SERPINB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINB1 Gene:

SERPINB1

SOURCE GeneReport for Unigene cluster for SERPINB1 Gene:

Hs.381167
genes like me logo Genes that share expression patterns with SERPINB1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SERPINB1 Gene

Orthologs for SERPINB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINB1 34 35
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia SERPINB1 34 35
  • 82.88 (n)
rat
(Rattus norvegicus)
Mammalia Serpinb1a 34
  • 82.23 (n)
mouse
(Mus musculus)
Mammalia Serpinb1a 34 16 35
  • 81.44 (n)
Serpinb1b 35
  • 76 (a)
OneToMany
Serpinb1c 35
  • 72 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SERPINB1 34 35
  • 78.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SERPINB1 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINB1 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 65 (a)
OneToMany
-- 35
  • 60 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinb1 34
  • 65.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25752 34
zebrafish
(Danio rerio)
Actinopterygii serpinb1 34 35
  • 60.05 (n)
serpinb1l2 35
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Spn4 36
  • 36 (a)
Spn1 36
  • 35 (a)
Spn6 36
  • 35 (a)
CG9455 36
  • 34 (a)
CG6717 36
  • 33 (a)
CG9460 36
  • 33 (a)
Spn2 36
  • 33 (a)
Spn3 36
  • 33 (a)
Spn43Aa 36
  • 33 (a)
nec 36
  • 30 (a)
Spn5 36
  • 30 (a)
Spn43Ab 36
  • 29 (a)
CG7722 36
  • 28 (a)
CG6687 36
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea srp-6 36
  • 29 (a)
srp-7 36
  • 29 (a)
srp-1 36
  • 28 (a)
Species where no ortholog for SERPINB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINB1 Gene

ENSEMBL:
Gene Tree for SERPINB1 (if available)
TreeFam:
Gene Tree for SERPINB1 (if available)

Paralogs for SERPINB1 Gene

Variants for SERPINB1 Gene

Sequence variations from dbSNP and Humsavar for SERPINB1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1060143 -- 2,833,162(-) AGAGC(A/C)CCCCA nc-transcript-variant, utr-variant-3-prime
rs1060144 -- 2,833,082(-) GTATT(C/T)TGTTA nc-transcript-variant, utr-variant-3-prime
rs1064761 -- 2,833,110(-) CTTTT(C/T)TGTCC nc-transcript-variant, utr-variant-3-prime
rs111263018 -- 2,836,022(+) TGTCT(C/T)TCTGA intron-variant, nc-transcript-variant, reference, missense
rs111520736 -- 2,835,491(+) ATCTT(A/T)AATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINB1 Gene

Variant ID Type Subtype PubMed ID
nsv1124018 CNV deletion 24896259
nsv600831 CNV gain 21841781

Variation tolerance for SERPINB1 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINB1 Gene

Disorders for SERPINB1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SERPINB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pulmonary emphysema
impetigo herpetiformis
bronchitis
  • acute bronchitis
vasculitis
  • angiitis
lung disease
  • lung diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SERPINB1

Genetic Association Database (GAD)
SERPINB1
Human Genome Epidemiology (HuGE) Navigator
SERPINB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINB1
genes like me logo Genes that share disorders with SERPINB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINB1 Gene

Publications for SERPINB1 Gene

  1. Sequence and molecular characterization of human monocyte/neutrophil elastase inhibitor. (PMID: 1376927) Remold-O'Donnell E. … Alberts M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 64
  2. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3 64
  3. Identification of SERPINB1 as a physiological inhibitor of human granzyme H. (PMID: 23269243) Wang L. … Fan Z. (J. Immunol. 2013) 3 4 64
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  5. Common polymorphisms in ITGA2, PON1 and THBS2 are associated with coronary atherosclerosis in a candidate gene association study of the Chinese Han population. (PMID: 20485444) Wang Y. … Huang W. (J. Hum. Genet. 2010) 3 46 64

Products for SERPINB1 Gene

Sources for SERPINB1 Gene

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