SERPINB7
Serpin B7
Also known as: SPB7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75635
- Gene
- SERPINB7
- Ensembl
- ENSG00000166396
- Chromosome
- 18
- Canonical length
- 380 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Endoplasmic reticulum,Mitochondria
OverviewNCBI Gene
This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Canonical amino-acid sequenceUniProt
380 residues, UniProt reviewed canonical sequence.
>O75635|SERPINB7
1 MASLAAANAE FCFNLFREMD DNQGNGNVFF SSLSLFAALA LVRLGAQDDS LSQIDKLLHV
61 NTASGYGNSS NSQSGLQSQL KRVFSDINAS HKDYDLSIVN GLFAEKVYGF HKDYIECAEK
121 LYDAKVERVD FTNHLEDTRR NINKWVENET HGKIKNVIGE GGISSSAVMV LVNAVYFKGK
181 WQSAFTKSET INCHFKSPKC SGKAVAMMHQ ERKFNLSVIE DPSMKILELR YNGGINMYVL
241 LPENDLSEIE NKLTFQNLME WTNPRRMTSK YVEVFFPQFK IEKNYEMKQY LRALGLKDIF
301 DESKADLSGI ASGGRLYISR MMHKSYIEVT EEGTEATAAT GSNIVEKQLP QSTLFRADHP
361 FLFVIRKDDI ILFSGKVSCPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SERPINB7 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)
- 0.24
- Highest tissue expression
- 122 nTPM
Expression across tissuesHPA
Tissue
- skin: 122 nTPM
- tonsil: 36 nTPM
- breast: 12 nTPM
- cervix: 4.9 nTPM
- vagina: 4.4 nTPM
- thymus: 4.2 nTPM
Single-cell type
- extravillous trophoblasts: 122 nCPM
- basal keratinocytes: 83 nCPM
- migrating cytotrophoblasts: 28 nCPM
- respiratory secretory cells: 27 nCPM
- suprabasal keratinocytes: 23 nCPM
- foveolar cells: 17 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 0.2 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SERPINB7.
Disease | AllUniProt
Conditions SERPINB7 is implicated in, by any mechanism.
- Keratoderma, palmoplantar, Nagashima type (PPKN) MIM:615598
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 120 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Palmoplantar keratoderma, Nagashima type
- SERPINB7-related disorder
- Palmoplantar keratodermas
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)
- 1.31
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.53
- DepMap mean gene effect
- 0.15
- 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
- positive regulation of collagen biosynthetic process
- positive regulation of glomerular mesangial cell proliferation
- positive regulation of platelet-derived growth factor production
- positive regulation of transforming growth factor beta1 production
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SERPINB7 as an antibody target. Whether an autoantibody or antibody against SERPINB7 could matter depends on whether native SERPINB7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SERPINB7 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 SERPINB7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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