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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).
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
8
Cytoband
p23.1
Chromosome location (bp)
7055304 - 7056739
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Host-defense peptide that maintains sterility in the urogenital system 1,2,3,4,5,6,7,8,9. Has antimicrobial activity against a wide range of bacteria, including Gram-negative E.coli, P.aeruginosa and S.typhimurium, and Gram-positive E.aerogenes, S.aureus, B.cereus, E.faecium and L.monocytogenes 10,11,12,13,14,15,16. Confers resistance to intestinal infection by S.typhimurium 17. Exhibits antimicrobial activity against enteric commensal bacteria such as B.adolescentis, L.acidophilus, B.breve, L.fermentum, B.longum and S.thermophilus 18. Binds to bacterial membranes and causes membrane disintegration 19. Induces the secretion of the chemokine IL-8 by intestinal epithelial cells 20. Binds to B.antracis lef/lethal factor, a major virulence factor from B.anthracis, and neutralizes its enzymatic activity 21....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Antibiotic, Antimicrobial, Defensin, Fungicide
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Immunity, Innate immunity
Gene summary (Entrez)i
Useful information about the gene from Entrez
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins 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:0002227[innate immune response in mucosa] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005796[Golgi lumen] GO:0006952[defense response] GO:0019731[antibacterial humoral response] GO:0030133[transport vesicle] GO:0030141[secretory granule] GO:0030496[midbody] GO:0031410[cytoplasmic vesicle] GO:0031640[killing of cells of another organism] GO:0032757[positive regulation of interleukin-8 production] GO:0034774[secretory granule lumen] GO:0042742[defense response to bacterium] GO:0042803[protein homodimerization activity] GO:0043231[intracellular membrane-bounded organelle] GO:0044364[disruption of cells of another organism] GO:0045087[innate immune response] GO:0050829[defense response to Gram-negative bacterium] GO:0050830[defense response to Gram-positive bacterium] GO:0050832[defense response to fungus] GO:0051289[protein homotetramerization] GO:0051873[killing by host of symbiont cells] GO:0061844[antimicrobial humoral immune response mediated by antimicrobial peptide] GO:0071222[cellular response to lipopolysaccharide] GO:1905710[positive regulation of membrane permeability]
The Human Protein Atlas project is funded
