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

Gene ID: 5271, updated on 13-Mar-2020

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
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

Genomic context

See SERPINB8 in Genome Data Viewer
Location:
18q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (63970029..64019779)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (61637263..61656608)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene serpin family B member 10 Neighboring gene uncharacterized LOC105372165 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 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
epithelial cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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_001276490.1NP_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
    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
    P50452
    UniProtKB/TrEMBL
    A0A024R2B1
    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_198833.1NP_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, BX280409, BX571754, CA445967, L40377
    Consensus CDS
    CCDS11991.1
    UniProtKB/Swiss-Prot
    P50452
    UniProtKB/TrEMBL
    A0A024R2B1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    63970029..64019779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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