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

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

    Summary

    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
    NEW
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    Genomic context

    See SERPINB8 in Genome Data Viewer
    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

    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?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    Genomic

    1. NG_052876.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001031848.2NP_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:4237
      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_001276490.2NP_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:1192
      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_001348367.2NP_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:4237
      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_001348368.2NP_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:4237
      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_001348369.2NP_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:4237
      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_001348370.2NP_001335299.1  serpin B8 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC009802
      Conserved Domains (1) summary
      cl00137
      Location:9194
      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_001366198.1NP_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:4374
      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_002640.4NP_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:4374
      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_198833.2NP_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:4374
      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)