DEFB119

DEFB119
Identifikatori
Aliasi	DEFB119
Vanjski ID-jevi	OMIM: 615997 MGI: 2385955 HomoloGene: 17045 GeneCards: DEFB119
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	31,390,590 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	152,422,232 bp
Ontologija gena
Molekularna funkcija	• lipopolysaccharide binding;
Ćelijska komponenta	• extracellular region; • cell surface;
Biološki proces	• defense response to bacterium; • defense response; • Urođeni imunski sistem;
	Izvori:Amigo / QuickGO
Ortolozi
	245932
	246700
	ENSG00000180483
	ENSMUSG00000050645
	Q8N690
	Q8K3I8
	NM_001271209; NM_153289; NM_153323
	NM_145157
	NP_001258138; NP_695021; NP_697018
	NP_660139
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Beta-defenzin 119 je protein koji je kod ljudi kodiran genom DEFB119.^[5]^[6]

Opis

Beta-defensini su porodica tipskih kationskih antimikrobnih peptida koji dijele motiv koji se sastoji od šest konzerviranih cisteina. DEFB119 i njegova spojena varijanta, DEFB120, dio su nakupine beta-defenzina na hromosomskoj poziciji 20q11.1, koji su eksprimirani u muškom reproduktivnom traktu.

Analizom genomske sekvence, koristeći višestruke računarske alate, Schutte i sur. (2002) identificirali su ljudske DEFB119 i DEFB120. Oba predviđena proteina sadrže domen 6-cisteina karakterističan za beta-defenzine. Analiza baze podataka EST sugerirala je da su i DEFB119 i DEFB120 transkribirani. Koristeći RT-PCR i EST analizu baze podataka, Radhakrishnan i sur. (2005) klonirali su ljudske i makakove DEFB119 i DEFB120 i utvrdili da su to spojene varijante. Predviđeni ljudski protein DEFB119 sadrži 84 aminokiseline, dok predviđeni protein DEFB120 sadrži 88 aminokiselina. DEFB119 i DEFB120 sadrže konzervirani motiv 6-cisteinskog transkripta. RT-PCR analiza ljudskih tkiva otkrila je obilnu ekspresiju DEFB119 i DEFB120 samo u muškom reproduktivnom traktu. [Ekspresija DEFB119 bila je obilna u testisima i regije omotača epididimisa, ali niska u regiji korpusa. Suprotno tome, ekspresija DEFB120 bila je obilna u proksimalnom epididimisu (caput i corpus) i niska u distalnom epididimisu i testisima.

Radhakrishnan i dr. (2005) utvrdili su da, za razliku od većine beta-defenzinskih gena, DEFB119 sadrži tri egzona umjesto dva. Prvi egzon dijele i varijante DEFB119 i DEFB120, dok su egzoni 2 i 3 alternativno prerađeni.^[7]^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000180483 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000050645 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (Feb 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.
^ "Entrez Gene: DEFB126 defensin, beta 126".
^ Radhakrishnan, Y., Hamil, K. G., Yenugu, S., Young, S. L., French, F. S., Hall, S. H. Identification, characterization, and evolution of a primate beta-defensin gene cluster. Genes Immun. 6: 203-210, 2005. [PubMed: 15772680
^ Schutte, B. C., Mitros, J. P., Bartlett, J. A., Walters, J. D., Jia, H. P., Welsh, M. J., Casavant, T. L., McCray, P. B., Jr. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. Proc. Nat. Acad. Sci. 99: 2129-2133, 2002. Note: Erratum: Proc. Nat. Acad. Sci. 99: 14611 only, 2002. PubMed: 11854508]

Dopunska literatura

Rodríguez-Jiménez FJ, Krause A, Schulz S, Forssmann WG, Conejo-Garcia JR, Schreeb R, Motzkus D (Feb 2003). "Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis". Genomics. 81 (2): 175–83. doi:10.1016/S0888-7543(02)00034-4. PMID 12620395.
Perry AC, Jones R, Moisyadi S, Coadwell J, Hall L (Oct 1999). "The novel epididymal secretory protein ESP13.2 in Macaca fascicularis". Biology of Reproduction. 61 (4): 965–72. doi:10.1095/biolreprod61.4.965. PMID 10491631.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000180483 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000050645 - Ensembl, maj 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.

[pmid11854508-5] Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (Feb 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.

[entrez-6] "Entrez Gene: DEFB126 defensin, beta 126".

[7] Radhakrishnan, Y., Hamil, K. G., Yenugu, S., Young, S. L., French, F. S., Hall, S. H. Identification, characterization, and evolution of a primate beta-defensin gene cluster. Genes Immun. 6: 203-210, 2005. [PubMed: 15772680

[8] Schutte, B. C., Mitros, J. P., Bartlett, J. A., Walters, J. D., Jia, H. P., Welsh, M. J., Casavant, T. L., McCray, P. B., Jr. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. Proc. Nat. Acad. Sci. 99: 2129-2133, 2002. Note: Erratum: Proc. Nat. Acad. Sci. 99: 14611 only, 2002. PubMed: 11854508]

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