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DEFB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1E4S, 1IJU, 1IJV, 1KJ5, 2NLB, 2NLC, 2NLD, 2NLE, 2NLF, 2NLG, 2NLH, 2NLP, 2NLQ, 2NLS, 2PLZ
Identifiers
Aliases	DEFB1, BD1, DEFB-1, DEFB101, HBD1, defensin beta 1
External IDs	OMIM: 602056; MGI: 1096878; HomoloGene: 88476; GeneCards: DEFB1; OMA:DEFB1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8p23.1 Start 6,870,592 bp End 6,877,936 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 A2|8 10.35 cM Start 22,266,615 bp End 22,285,201 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas salivary gland skin of abdomen minor salivary glands human kidney skin of leg islet of Langerhans mucosa of esophagus olfactory zone of nasal mucosa right lobe of liver Top expressed in conjunctival fornix right kidney human kidney islet of Langerhans lip cornea esophagus skin of external ear corneal stroma ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function CCR6 chemokine receptor binding protein binding identical protein binding Cellular component Golgi lumen extracellular region extracellular exosome sperm midpiece extracellular space extrinsic component of membrane microvesicle membrane Biological process chemotaxis G protein-coupled receptor signaling pathway defense response innate immune response in mucosa acute inflammatory response response to bacterium immune response response to testosterone positive regulation of flagellated sperm motility involved in capacitation defense response to bacterium calcium-mediated signaling using intracellular calcium source cAMP-mediated signaling defense response to Gram-negative bacterium antimicrobial humoral response innate immune response antimicrobial humoral immune response mediated by antimicrobial peptide defense response to Gram-positive bacterium Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1672 13214 Ensembl ENSG00000164825 ENSG00000284881 ENSMUSG00000044748 UniProt P60022 P56386 RefSeq (mRNA) NM_005218 NM_007843 RefSeq (protein) NP_005209 NP_031869 Location (UCSC) Chr 8: 6.87 – 6.88 Mb Chr 8: 22.27 – 22.29 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Beta-defensin 1 is a protein that in humans is encoded by the DEFB1 gene.

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member defensin, alpha 1, and has been implicated in the pathogenesis of cystic fibrosis. Single-nucleotide polymorphisms in the DEFB1 gene were associated with plasma kynurenine concentrations in major depressive disorder patients in a genome-wide association study.

References

1. ^ ENSG00000284881 GRCh38: Ensembl release 89: ENSG00000164825, ENSG00000284881 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000044748 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bensch KW, Raida M, Mägert HJ, Schulz-Knappe P, Forssmann WG (July 1995). "hBD-1: a novel beta-defensin from human plasma". FEBS Letters. 368 (2): 331–5. doi:10.1016/0014-5793(95)00687-5. PMID 7628632. S2CID 84766207.
6. ^ "Entrez Gene: DEFB1 defensin, beta 1".
7. Liu D, Ray B, Neavin DR, Zhang J, Athreya AP, Biernacka JM, et al. (January 2018). "Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics". Translational Psychiatry. 8 (1): 10. doi:10.1038/s41398-017-0056-8. PMC 5802574. PMID 29317604.

Further reading

• Ganz T, Lehrer RI (May 1995). "Defensins". Pharmacology & Therapeutics. 66 (2): 191–205. doi:10.1016/0163-7258(94)00076-F. PMID 7667395.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Goldman MJ, Anderson GM, Stolzenberg ED, Kari UP, Zasloff M, Wilson JM (February 1997). "Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis". Cell. 88 (4): 553–60. doi:10.1016/S0092-8674(00)81895-4. PMID 9038346. S2CID 6614946.
• McCray PB, Bentley L (March 1997). "Human airway epithelia express a beta-defensin". American Journal of Respiratory Cell and Molecular Biology. 16 (3): 343–9. doi:10.1165/ajrcmb.16.3.9070620. PMID 9070620.
• Liu L, Zhao C, Heng HH, Ganz T (August 1997). "The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry". Genomics. 43 (3): 316–20. doi:10.1006/geno.1997.4801. PMID 9268634.
• Valore EV, Park CH, Quayle AJ, Wiles KR, McCray PB, Ganz T (April 1998). "Human beta-defensin-1: an antimicrobial peptide of urogenital tissues". The Journal of Clinical Investigation. 101 (8): 1633–42. doi:10.1172/JCI1861. PMC 508744. PMID 9541493.
• Schnapp D, Reid CJ, Harris A (September 1998). "Localization of expression of human beta defensin-1 in the pancreas and kidney". The Journal of Pathology. 186 (1): 99–103. doi:10.1002/(SICI)1096-9896(199809)186:1<99::AID-PATH133>3.0.CO;2-#. PMID 9875146. S2CID 196604843.
• Hiratsuka T, Nakazato M, Ashitani J, Matsukura S (February 1999). "[A study of human beta-defensin-1 and human beta-defensin-2 in airway mucosal defense]". Kansenshogaku Zasshi. The Journal of the Japanese Association for Infectious Diseases. 73 (2): 156–62. doi:10.11150/kansenshogakuzasshi1970.73.156. PMID 10213993.
• Gropp R, Frye M, Wagner TO, Bargon J (April 1999). "Epithelial defensins impair adenoviral infection: implication for adenovirus-mediated gene therapy". Human Gene Therapy. 10 (6): 957–64. doi:10.1089/10430349950018355. PMID 10223729.
• Mathews M, Jia HP, Guthmiller JM, Losh G, Graham S, Johnson GK, et al. (June 1999). "Production of beta-defensin antimicrobial peptides by the oral mucosa and salivary glands". Infection and Immunity. 67 (6): 2740–5. doi:10.1128/IAI.67.6.2740-2745.1999. PMC 96577. PMID 10338476.
• Bøe R, Silvola J, Yang J, Moens U, McCray PB, Stenfors LE, Seljfelid R (September 1999). "Human beta-defensin-1 mRNA is transcribed in tympanic membrane and adjacent auditory canal epithelium". Infection and Immunity. 67 (9): 4843–6. doi:10.1128/IAI.67.9.4843-4846.1999. PMC 96817. PMID 10456939.
• Yang D, Chertov O, Bykovskaia SN, Chen Q, Buffo MJ, Shogan J, et al. (October 1999). "Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6". Science. 286 (5439): 525–8. doi:10.1126/science.286.5439.525. PMID 10521347.
• Tunzi CR, Harper PA, Bar-Oz B, Valore EV, Semple JL, Watson-MacDonell J, et al. (July 2000). "Beta-defensin expression in human mammary gland epithelia". Pediatric Research. 48 (1): 30–5. doi:10.1203/00006450-200007000-00008. PMID 10879797.
• Sahasrabudhe KS, Kimball JR, Morton TH, Weinberg A, Dale BA (September 2000). "Expression of the antimicrobial peptide, human beta-defensin 1, in duct cells of minor salivary glands and detection in saliva". Journal of Dental Research. 79 (9): 1669–74. doi:10.1177/00220345000790090601. PMID 11023262. S2CID 2364914.
• Jia HP, Starner T, Ackermann M, Kirby P, Tack BF, McCray PB (January 2001). "Abundant human beta-defensin-1 expression in milk and mammary gland epithelium". The Journal of Pediatrics. 138 (1): 109–12. doi:10.1067/mpd.2001.109375. PMID 11148522.
• Ali RS, Falconer A, Ikram M, Bissett CE, Cerio R, Quinn AG (July 2001). "Expression of the peptide antibiotics human beta defensin-1 and human beta defensin-2 in normal human skin". The Journal of Investigative Dermatology. 117 (1): 106–11. doi:10.1046/j.0022-202x.2001.01401.x. PMID 11442756.
• Carothers DG, Graham SM, Jia HP, Ackermann MR, Tack BF, McCray PB (2001). "Production of beta-defensin antimicrobial peptides by maxillary sinus mucosa". American Journal of Rhinology. 15 (3): 175–9. doi:10.2500/105065801779954238. PMID 11453504. S2CID 31583849.
• Hoover DM, Chertov O, Lubkowski J (October 2001). "The structure of human beta-defensin-1: new insights into structural properties of beta-defensins". The Journal of Biological Chemistry. 276 (42): 39021–6. doi:10.1074/jbc.M103830200. PMID 11486002.

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