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

    Gene ID: 5271, updated on 2-Nov-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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    See SERPINB8 in Genome Data Viewer
    Location:
    18q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (63970081..64019779)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (64175116..64224810)
    RS_2024_09 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 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. Distribution of the human intracellular serpin protease inhibitor 8 in human tissues. Strik MC, et al. J Histochem Cytochem, 2002 Nov. PMID 12417609
    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. 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
    5. Inhibition of soluble recombinant furin by human proteinase inhibitor 8. Dahlen JR, et al. J Biol Chem, 1998 Jan 23. PMID 9442015

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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