SERPINB8
Serpin B8
Also known as: CAP2, PI8, SPB8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P50452
- Gene
- SERPINB8
- Ensembl
- ENSG00000166401
- Chromosome
- 18
- Canonical length
- 374 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Actin filaments,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
374 residues, UniProt reviewed canonical sequence.
>P50452|SERPINB8
1 MDDLCEANGT FAISLFKILG EEDNSRNVFF SPMSISSALA MVFMGAKGST AAQMSQALCL
61 YKDGDIHRGF QSLLSEVNRT GTQYLLRTAN RLFGEKTCDF LPDFKEYCQK FYQAELEELS
121 FAEDTEECRK HINDWVAEKT EGKISEVLDA GTVDPLTKLV LVNAIYFKGK WNEQFDRKYT
181 RGMLFKTNEE KKTVQMMFKE AKFKMGYADE VHTQVLELPY VEEELSMVIL LPDDNTDLAV
241 VEKALTYEKF KAWTNSEKLT KSKVQVFLPR LKLEESYDLE PFLRRLGMID AFDEAKADFS
301 GMSTEKNVPL SKVAHKCFVE VNEEGTEAAA ATAVVRNSRC SRMEPRFCAD HPFLFFIRHH
361 KTNCILFCGR FSSPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SERPINB8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 55 nTPM
Expression across tissuesHPA
Tissue
- skin: 55 nTPM
- liver: 35 nTPM
- bone marrow: 29 nTPM
- esophagus: 28 nTPM
- urinary bladder: 22 nTPM
- tonsil: 17 nTPM
Single-cell type
- esophageal apical cells: 168 nCPM
- monocyte progenitors: 107 nCPM
- monocytes: 85 nCPM
- esophageal suprabasal cells: 81 nCPM
- suprabasal keratinocytes: 57 nCPM
- neutrophils: 51 nCPM
Immune cell
- myeloid DC: 54 nTPM
- classical monocyte: 44 nTPM
- intermediate monocyte: 34 nTPM
- plasmacytoid DC: 29 nTPM
- non-classical monocyte: 18 nTPM
- neutrophil: 12 nTPM
Brain region
- medulla oblongata: 14 nTPM
- thalamus: 13 nTPM
- white matter: 12 nTPM
- pons: 12 nTPM
- spinal cord: 12 nTPM
- midbrain: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SERPINB8.
Disease | AllUniProt
Conditions SERPINB8 is implicated in, by any mechanism.
- Peeling skin syndrome 5 (PSS5) MIM:617115
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 109 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Peeling skin syndrome 5
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.41
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.95
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SERPINB8 as an antibody target. Whether an autoantibody or antibody against SERPINB8 could matter depends on whether native SERPINB8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SERPINB8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SERPINB8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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