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APOBEC3B

APOBEC3B
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

5CQD, 5CQH, 5CQI, 5CQK, 2NBQ

Identifikatori
AliasiAPOBEC3B
Vanjski ID-jeviOMIM: 607110 MGI: 1933111 HomoloGene: 105420 GeneCards: APOBEC3B
Lokacija gena (čovjek)
Hromosom 22 (čovjek)
Hrom.Hromosom 22 (čovjek)[1]
Hromosom 22 (čovjek)
Genomska lokacija za APOBEC3B
Genomska lokacija za APOBEC3B
Bend22q13.1Početak38,982,347 bp[1]
Kraj38,992,804 bp[1]
Lokacija gena (miš)
Hromosom 15 (miš)
Hrom.Hromosom 15 (miš)[2]
Hromosom 15 (miš)
Genomska lokacija za APOBEC3B
Genomska lokacija za APOBEC3B
Bend15 E1|15 37.85 cMPočetak79,775,860 bp[2]
Kraj79,800,107 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines
vezivanje iona cinka
catalytic activity
hydrolase activity
vezivanje iona metala
deoxycytidine deaminase activity
vezivanje sa RNK
cytidine deaminase activity
Ćelijska komponenta jedro
citoplazma
Biološki proces negative regulation of transposition
Urođeni imunski sistem
immune system process
defense response to virus
cytidine deamination
cytidine to uridine editing
DNA demethylation
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_004900
NM_001270411

NM_001160415
NM_030255
NM_001347041

RefSeq (bjelančevina)

NP_001257340
NP_004891

NP_001153887
NP_001333970
NP_084531

Lokacija (UCSC)Chr 22: 38.98 – 38.99 MbChr 15: 79.78 – 79.8 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Vjerovatni DNK dC->dU–editirajući enzim APOBEC-3B jest protein koji je kod ljudi kodiran genom APOBEC3B sa hromosoma 22.[5][6][7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 382 aminokiseline, a molekulska težina 45.924 Da.[8]

1020304050
MNPQIRNPMERMYRDTFYDNFENEPILYGRSYTWLCYEVKIKRGRSNLLW
DTGVFRGQVYFKPQYHAEMCFLSWFCGNQLPAYKCFQITWFVSWTPCPDC
VAKLAEFLSEHPNVTLTISAARLYYYWERDYRRALCRLSQAGARVTIMDY
EEFAYCWENFVYNEGQQFMPWYKFDENYAFLHRTLKEILRYLMDPDTFTF
NFNNDPLVLRRRQTYLCYEVERLDNGTWVLMDQHMGFLCNEAKNLLCGFY
GRHAELRFLDLVPSLQLDPAQIYRVTWFISWSPCFSWGCAGEVRAFLQEN
THVRLRIFAARIYDYDPLYKEALQMLRDAGAQVSIMTYDEFEYCWDTFVY
RQGCPFQPWDGLEEHSQALSGRLRAILQNQGN

Funkcija

Ovaj gen je član genske porodice citidin-deaminaza, To je jedan od sedam srodnih gena ili pseudogena pronađenih u klasteru, za koji se smatra da je rezultat duplikacije gena na hromosomu 22. Članovi klastera kodiraju proteine koji su strukturno i funkcionalno povezani sa citidin-deaminazom koja editira C u U u RNK APOBEC1. Smatra se da proteini mogu biti enzimi koji editiraju RNK i da imaju ulogu u rastu ili kontroli ćelijskog ciklusa. Za ovaj gen, zajedno s APOBEC3A, posljednjih je godina pronađeno da je povezan s mutagenezom nekoliko karcinoma. Proteini APOBEC3A i APOBEC3B mogu uzrokovati specifične mutacije u genomima raka koje se nazivaju APOBEC-mutageneza i nekoliko faktora uključujući genetički i okolišni utjecaj na ovaj mutacijski obrazac među pacijentima posebno kod raka mokraćne bešike i dojke.[7] Ovaj gen je također pretjerano eksprimiran u multiplom mijelomu, što može pomoći njegovom nastanku.[9]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179750 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000009585 - 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.
  5. ^ Jarmuz A, Chester A, Bayliss J, Gisbourne J, Dunham I, Scott J, Navaratnam N (Feb 2002). "An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22". Genomics. 79 (3): 285–96. doi:10.1006/geno.2002.6718. PMID 11863358.
  6. ^ Madsen P, Anant S, Rasmussen HH, Gromov P, Vorum H, Dumanski JP, Tommerup N, Collins JE, Wright CL, Dunham I, MacGinnitie AJ, Davidson NO, Celis JE (Sep 1999). "Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1". J Invest Dermatol. 113 (2): 162–9. doi:10.1046/j.1523-1747.1999.00682.x. PMID 10469298.
  7. ^ a b "Entrez Gene: APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B".
  8. ^ "UniProt, Q9UH17" (jezik: engleski). Pristupljeno 04-02-2022. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)
  9. ^ Yamazaki, Hiroyuki; Shirakawa, Kotaro; Matsumoto, Tadahiko; Hirabayashi, Shigeki; Murakawa, Yasuhiro; Kobayashi, Masayuki; Sarca, Anamaria Daniela; Kazuma, Yasuhiro; Matsui, Hiroyuki; Maruyama, Wataru; Fukuda, Hirofumi; Shirakawa, Ryutaro; Shindo, Keisuke; Ri, Masaki; Iida, Shinsuke; Takaori-Kondo, Akifumi (9. 5. 2019). "Endogenous APOBEC3B Overexpression Constitutively Generates DNA Substitutions and Deletions in Myeloma Cells". Scientific Reports. 9 (1): 7122. doi:10.1038/s41598-019-43575-y. PMC 6509214. PMID 31073151.

Dopunska literatura

Steven A Roberts, Michael S Lawrence, Leszek J Klimczak, Sara A Grimm, David Fargo, Petar Stojanov, Adam Kiezun, Gregory V Kryukov, Scott L Carter, Gordon Saksena, Shawn Harris, Ruchir R Shah, Michael A Resnick, Gad Getz & Dmitry A Gordenin

  • Candace D Middlebrooks, A Rouf Banday, Konichi Matsuda, et al. Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors Exit Disclaimer. Nature Genetics 2016.

Vanjski linkovi

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