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SERPINB8 serpin family B member 8 [ Homo sapiens (human) ]

Gene ID: 5271, updated on 5-Mar-2024

Summary

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Official Symbol
SERPINB8provided by HGNC
Official Full Name
serpin family B member 8provided by HGNC
Primary source
HGNC:HGNC:8952
See related
Ensembl:ENSG00000166401 MIM:601697; AllianceGenome:HGNC:8952
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
PI8; CAP2; PI-8; PSS5; C18orf53
Summary
The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]
Expression
Ubiquitous expression in skin (RPKM 7.4), gall bladder (RPKM 5.8) and 23 other tissues See more
Orthologs
all
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Genomic context

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Location:
18q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63970081..64019779)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (64175116..64224810)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61637315..61687013)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:61607430-61607930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13470 Neighboring gene uncharacterized LOC105372165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9532 Neighboring gene Sharpr-MPRA regulatory region 9998 Neighboring gene histocompatibility minor serpin domain containing Neighboring gene ribosomal protein L12 pseudogene 39 Neighboring gene long intergenic non-protein coding RNA 305 Neighboring gene NANOG hESC enhancer GRCh37_chr18:61777924-61778425 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:61783938-61784528 Neighboring gene long intergenic non-protein coding RNA 1924

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Inhibition of Infectious HIV-1 Production by Rerouting the Cellular Furin Inhibitor Serpin B8. Petersen M, et al. J Virol, 2023 Jun 29. PMID 37272794, Free PMC Article
  2. Serine protease inhibitor 8 is a novel immunohistochemical marker for neuroendocrine tumors of the pancreas. de Koning PJ, et al. Pancreas, 2009 May. PMID 19188865
  3. The serpin proteinase inhibitor 8: an endogenous furin inhibitor released from human platelets. Leblond J, et al. Thromb Haemost, 2006 Feb. PMID 16493485
  4. Distribution of the human intracellular serpin protease inhibitor 8 in human tissues. Strik MC, et al. J Histochem Cytochem, 2002 Nov. PMID 12417609
  5. Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. Pigors M, et al. Am J Hum Genet, 2016 Aug 4. PMID 27476651, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inhibition of Infectious HIV-1 Production by Rerouting the Cellular Furin Inhibitor Serpin B8.
    Title: Inhibition of Infectious HIV-1 Production by Rerouting the Cellular Furin Inhibitor Serpin B8.
  2. SERPINB8 and furin regulate ITGAX expression and affect the proliferation and invasion of melanoma cells.
    Title: SERPINB8 and furin regulate ITGAX expression and affect the proliferation and invasion of melanoma cells.
  3. report of mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis
    Title: Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Association analyses identify six new psoriasis susceptibility loci in the Chinese population.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. Data show that SERPINB8 is expressed in normal neuroendocrine cells of several organs as well as in neuroendocrine tumors of the pancreas, where it can be used as an additional diagnostic immunohistochemical marker.
    Title: Serine protease inhibitor 8 is a novel immunohistochemical marker for neuroendocrine tumors of the pancreas.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
  8. PI8 is released by platelets and controls functional responses
    Title: The serpin proteinase inhibitor 8: an endogenous furin inhibitor released from human platelets.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Peeling skin syndrome 5
MedGen: C4310710 OMIM: 617115 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in epithelial cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
serpin B8
Names
cytoplasmic antiproteinase 2
peptidase inhibitor 8
protease inhibitor 8 (ovalbumin type)
serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8
serpin peptidase inhibitor, clade B (ovalbumin), member 8

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.

Genomic

  1. NG_052876.1 RefSeqGene

    Range
    5054..24347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031848.2 → NP_001027018.1  serpin B8 isoform b

    See identical proteins and their annotated locations for NP_001027018.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in the 5' UTR and has an alternate 3'-most exon compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC034528, BX280409, U92984
    Consensus CDS
    CCDS42442.1
    UniProtKB/Swiss-Prot
    P50452
    Related
    ENSP00000381075.3, ENST00000397988.7
    Conserved Domains (1) summary
    cl00137
    Location:4 → 237
    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. NM_001276490.2 → NP_001263419.1  serpin B8 isoform c

    See identical proteins and their annotated locations for NP_001263419.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice junction in the 5' UTR and lacks the alternate exon containing the translation start site compared to variant 2. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC009802, AK300391, BX280409, BX571754, DC384755
    Consensus CDS
    CCDS62460.1
    UniProtKB/Swiss-Prot
    P50452
    Related
    ENSP00000438328.1, ENST00000542677.5
    Conserved Domains (1) summary
    cl00137
    Location:1 → 192
    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. NM_001348367.2 → NP_001335296.1  serpin B8 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC009802
    Consensus CDS
    CCDS86678.1
    UniProtKB/TrEMBL
    A0A1B0GU38
    Related
    ENSP00000489949.1, ENST00000636430.1
    Conserved Domains (1) summary
    cl00137
    Location:4 → 237
    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 ...

  4. NM_001348368.2 → NP_001335297.1  serpin B8 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform e.
    Source sequence(s)
    AC009802
    Conserved Domains (1) summary
    cl00137
    Location:4 → 237
    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 ...

  5. NM_001348369.2 → NP_001335298.1  serpin B8 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform e.
    Source sequence(s)
    AC009802
    Conserved Domains (1) summary
    cl00137
    Location:4 → 237
    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 ...

  6. NM_001348370.2 → NP_001335299.1  serpin B8 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC009802
    Conserved Domains (1) summary
    cl00137
    Location:9 → 194
    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 ...

  7. NM_001366198.1 → NP_001353127.1  serpin B8 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR compared to variant 2. Variants 1, 2 and 10 encode the same isoform (a).
    Source sequence(s)
    AC009802
    Consensus CDS
    CCDS11991.1
    UniProtKB/Swiss-Prot
    B4DTW2, P50452, Q7Z2V6, Q8N178
    UniProtKB/TrEMBL
    B2R9H3
    Conserved Domains (1) summary
    cl00137
    Location:4 → 374
    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 ...

  8. NM_002640.4 → NP_002631.3  serpin B8 isoform a

    See identical proteins and their annotated locations for NP_002631.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate splice junction in the 5' UTR compared to variant 2. Variants 1, 2 and 10 encode the same isoform (a).
    Source sequence(s)
    BE566411, BG611734, BQ435307, BX571754, CA445967, L40377
    Consensus CDS
    CCDS11991.1
    UniProtKB/Swiss-Prot
    B4DTW2, P50452, Q7Z2V6, Q8N178
    UniProtKB/TrEMBL
    B2R9H3
    Related
    ENSP00000381072.2, ENST00000397985.7
    Conserved Domains (1) summary
    cl00137
    Location:4 → 374
    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 ...

  9. NM_198833.2 → NP_942130.1  serpin B8 isoform a

    See identical proteins and their annotated locations for NP_942130.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2 and 10 encode the same isoform (a).
    Source sequence(s)
    AL708543, BE566411, BG611734, BX571754, CA445967, L40377
    Consensus CDS
    CCDS11991.1
    UniProtKB/Swiss-Prot
    B4DTW2, P50452, Q7Z2V6, Q8N178
    UniProtKB/TrEMBL
    B2R9H3
    Related
    ENSP00000331368.3, ENST00000353706.6
    Conserved Domains (1) summary
    cl00137
    Location:4 → 374
    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_145571.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009802

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    63970081..64019779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    64175116..64224810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50452.2 GenPept UniProtKB/Swiss-Prot:P50452

Gene LinkOut

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