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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
5
Cytoband
q32
Chromosome location (bp)
148025683 - 148137382
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Protease inhibitor, Serine protease inhibitor
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of skin Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002787[negative regulation of antibacterial peptide production] GO:0004867[serine-type endopeptidase inhibitor activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005938[cell cortex] GO:0007417[central nervous system development] GO:0009913[epidermal cell differentiation] GO:0010466[negative regulation of peptidase activity] GO:0016525[negative regulation of angiogenesis] GO:0030154[cell differentiation] GO:0030155[regulation of cell adhesion] GO:0030198[extracellular matrix organization] GO:0030414[peptidase inhibitor activity] GO:0030855[epithelial cell differentiation] GO:0035315[hair cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0045580[regulation of T cell differentiation] GO:0045861[negative regulation of proteolysis] GO:0048471[perinuclear region of cytoplasm] GO:0050777[negative regulation of immune response] GO:0051884[regulation of timing of anagen] GO:0097209[epidermal lamellar body] GO:1900004[negative regulation of serine-type endopeptidase activity] GO:1902572[negative regulation of serine-type peptidase activity]
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of skin Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004867[serine-type endopeptidase inhibitor activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005938[cell cortex] GO:0007417[central nervous system development] GO:0009913[epidermal cell differentiation] GO:0010466[negative regulation of peptidase activity] GO:0016525[negative regulation of angiogenesis] GO:0030154[cell differentiation] GO:0030198[extracellular matrix organization] GO:0030414[peptidase inhibitor activity] GO:0030855[epithelial cell differentiation] GO:0035315[hair cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0045580[regulation of T cell differentiation] GO:0048471[perinuclear region of cytoplasm] GO:0050777[negative regulation of immune response] GO:0051884[regulation of timing of anagen] GO:0097209[epidermal lamellar body] GO:1902572[negative regulation of serine-type peptidase activity]
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of skin Immune system diseases Allergies and autoimmune diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004867[serine-type endopeptidase inhibitor activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005938[cell cortex] GO:0007417[central nervous system development] GO:0009913[epidermal cell differentiation] GO:0010466[negative regulation of peptidase activity] GO:0016525[negative regulation of angiogenesis] GO:0030154[cell differentiation] GO:0030198[extracellular matrix organization] GO:0030414[peptidase inhibitor activity] GO:0030855[epithelial cell differentiation] GO:0035315[hair cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0045580[regulation of T cell differentiation] GO:0048471[perinuclear region of cytoplasm] GO:0050777[negative regulation of immune response] GO:0051884[regulation of timing of anagen] GO:0097209[epidermal lamellar body] GO:1902572[negative regulation of serine-type peptidase activity]
The Human Protein Atlas project is funded
