DEFB104A: Difference between revisions
Jump to navigation
Jump to search
m Bot: HTTP→HTTPS |
Matt Pijoan (talk | contribs) m 1 revision imported |
||
(One intermediate revision by one other user not shown) | |||
Line 1: | Line 1: | ||
{{ | {{Infobox_gene}} | ||
'''Beta-defensin 104''' is a [[protein]] that in [[Human|humans]] is encoded by the ''DEFB104A'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DEFB104A defensin, beta 104A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=140596| accessdate = }}</ref> | |||
== Function == | |||
[[Defensins]] form a family of microbicidal and cytotoxic [[peptides]] made by [[neutrophils]]. Defensins are short, processed peptide [[Molecule|molecules]] that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five [[Synteny|syntenic]] [[Chromosome regions|chromosomal regions]]. [[Chromosome_8_(human)|Chromosome 8p23]] contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more [[Centromere|centromeric]] copy.<ref name="entrez" /> | |||
==References== | == References == | ||
{{reflist}} | {{reflist}} | ||
==Further reading== | == Further reading == | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Patil AA, Cai Y, Sang Y, Blecha F, Zhang G | title = Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract | journal = Physiological Genomics | volume = 23 | issue = 1 | pages = 5–17 | date = September 2005 | pmid = 16033865 | doi = 10.1152/physiolgenomics.00104.2005 }} | |||
* {{cite journal | vauthors = Vankeerberghen A, Scudiero O, De Boeck K, Macek M, Pignatti PF, Van Hul N, Nuytten H, Salvatore F, Castaldo G, Zemkova D, Vavrova V, Cassiman JJ, Cuppens H | title = Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations | journal = Genomics | volume = 85 | issue = 5 | pages = 574–81 | date = May 2005 | pmid = 15820309 | doi = 10.1016/j.ygeno.2005.02.003 }} | |||
*{{cite journal | * {{cite journal | vauthors = Boniotto M, Ventura M, Eskdale J, Crovella S, Gallagher G | title = Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution | journal = Genetic Testing | volume = 8 | issue = 3 | pages = 325–7 | year = 2005 | pmid = 15727258 | doi = 10.1089/gte.2004.8.325 }} | ||
*{{cite journal | * {{cite journal | vauthors = Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R, Platzer M | title = Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence | journal = BMC Genomics | volume = 5 | issue = 1 | pages = 92 | date = December 2004 | pmid = 15588320 | pmc = 544879 | doi = 10.1186/1471-2164-5-92 }} | ||
*{{cite journal | * {{cite journal | vauthors = Hollox EJ, Armour JA, Barber JC | title = Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster | journal = American Journal of Human Genetics | volume = 73 | issue = 3 | pages = 591–600 | date = September 2003 | pmid = 12916016 | pmc = 1180683 | doi = 10.1086/378157 }} | ||
*{{cite journal | * {{cite journal | vauthors = Semple CA, Rolfe M, Dorin JR | title = Duplication and selection in the evolution of primate beta-defensin genes | journal = Genome Biology | volume = 4 | issue = 5 | pages = R31 | year = 2003 | pmid = 12734011 | pmc = 156587 | doi = 10.1186/gb-2003-4-5-r31 }} | ||
* {{cite journal | vauthors = Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H, Ouchi Y | title = Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice | journal = Journal of Immunology | volume = 169 | issue = 5 | pages = 2516–23 | date = September 2002 | pmid = 12193721 | doi = 10.4049/jimmunol.169.5.2516 }} | |||
*{{cite journal | * {{cite journal | vauthors = Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB | title = Discovery of five conserved beta -defensin gene clusters using a computational search strategy | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 4 | pages = 2129–33 | date = February 2002 | pmid = 11854508 | pmc = 122330 | doi = 10.1073/pnas.042692699 }} | ||
*{{cite journal | * {{cite journal | vauthors = García JR, Krause A, Schulz S, Rodríguez-Jiménez FJ, Klüver E, Adermann K, Forssmann U, Frimpong-Boateng A, Bals R, Forssmann WG | title = Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity | journal = FASEB Journal | volume = 15 | issue = 10 | pages = 1819–21 | date = August 2001 | pmid = 11481241 | doi = 10.1096/fj.00-0865fje }} | ||
*{{cite journal | |||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{protein-stub}} | {{protein-stub}} | ||
[[Category:Defensins]] |
Latest revision as of 08:45, 10 January 2019
VALUE_ERROR (nil) | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Aliases | |||||||
External IDs | GeneCards: [1] | ||||||
Orthologs | |||||||
Species | Human | Mouse | |||||
Entrez |
|
| |||||
Ensembl |
|
| |||||
UniProt |
|
| |||||
RefSeq (mRNA) |
|
| |||||
RefSeq (protein) |
|
| |||||
Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
|
Beta-defensin 104 is a protein that in humans is encoded by the DEFB104A gene.[1]
Function
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy.[1]
References
Further reading
- Patil AA, Cai Y, Sang Y, Blecha F, Zhang G (September 2005). "Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract". Physiological Genomics. 23 (1): 5–17. doi:10.1152/physiolgenomics.00104.2005. PMID 16033865.
- Vankeerberghen A, Scudiero O, De Boeck K, Macek M, Pignatti PF, Van Hul N, Nuytten H, Salvatore F, Castaldo G, Zemkova D, Vavrova V, Cassiman JJ, Cuppens H (May 2005). "Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations". Genomics. 85 (5): 574–81. doi:10.1016/j.ygeno.2005.02.003. PMID 15820309.
- Boniotto M, Ventura M, Eskdale J, Crovella S, Gallagher G (2005). "Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution". Genetic Testing. 8 (3): 325–7. doi:10.1089/gte.2004.8.325. PMID 15727258.
- Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R, Platzer M (December 2004). "Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence". BMC Genomics. 5 (1): 92. doi:10.1186/1471-2164-5-92. PMC 544879. PMID 15588320.
- Hollox EJ, Armour JA, Barber JC (September 2003). "Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster". American Journal of Human Genetics. 73 (3): 591–600. doi:10.1086/378157. PMC 1180683. PMID 12916016.
- Semple CA, Rolfe M, Dorin JR (2003). "Duplication and selection in the evolution of primate beta-defensin genes". Genome Biology. 4 (5): R31. doi:10.1186/gb-2003-4-5-r31. PMC 156587. PMID 12734011.
- Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H, Ouchi Y (September 2002). "Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice". Journal of Immunology. 169 (5): 2516–23. doi:10.4049/jimmunol.169.5.2516. PMID 12193721.
- Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (February 2002). "Discovery of five conserved beta -defensin gene clusters using a computational search strategy". Proceedings of the National Academy of Sciences of the United States of America. 99 (4): 2129–33. doi:10.1073/pnas.042692699. PMC 122330. PMID 11854508.
- García JR, Krause A, Schulz S, Rodríguez-Jiménez FJ, Klüver E, Adermann K, Forssmann U, Frimpong-Boateng A, Bals R, Forssmann WG (August 2001). "Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity". FASEB Journal. 15 (10): 1819–21. doi:10.1096/fj.00-0865fje. PMID 11481241.
This protein-related article is a stub. You can help Wikipedia by expanding it. |