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RANBP3L

RANBP3L
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2CRF, 2Y8F, 2Y8G

Identifikatori
AliasiRANBP3L
Vanjski ID-jeviOMIM: 616391 MGI: 2444654 HomoloGene: 35407 GeneCards: RANBP3L
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za RANBP3L
Genomska lokacija za RANBP3L
Bend5p13.2Početak36,246,913 bp[1]
Kraj36,302,114 bp[1]
Ontologija gena
Molekularna funkcija GO:0005097, GO:0005099, GO:0005100 GTPase activator activity
SMAD binding
Ćelijska komponenta centrosom
jedro
citoplazma
jedrova pora
Biološki proces intracellular transport
RNA export from nucleus
ubiquitin-dependent protein catabolic process
protein import into nucleus
GO:0043146 spindle organization
GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity
positive regulation of mitotic centrosome separation
positive regulation of myoblast differentiation
negative regulation of osteoblast differentiation
mesenchymal cell differentiation involved in bone development
G1/S transition of mitotic cell cycle
protein export from nucleus
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001161429
NM_145000
NM_001323273
NM_001323274
NM_001323275

NM_001323276
NM_001323277
NM_001323278
NM_001323279
NM_001323280

NM_198024

RefSeq (bjelančevina)
NP_001154901
NP_001310202
NP_001310203
NP_001310204
NP_001310205

NP_001310206
NP_001310207
NP_001310208
NP_001310209
NP_659437

NP_932141

Lokacija (UCSC)Chr 5: 36.25 – 36.3 Mbn/a
PubMed pretraga[2][3]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Proteinoliki 3 RAN-vezujći protein je jest protein koji je kod ljudi kodiran genom RANBP3L sa hromosoma 5.[4]

U jednom istraživanju iz 2017., polazi se od činjenice da etiologija benigne hiperplazije prostate (BPH) nije dobro utvrđena. Poželjan medicinski tretman za mnoge muškarce sa simptomskom benignom hiperplazijom prostate je ili antagonist α-adrenergijskih receptora (α-blokator) ili inhibitor 5α-reduktaze. Jednonukleotidni polimorfizam (SNP) tj. tačkasta mutacija moćno je oruđe za uspješnu provedbu individualiziranog liječenja.

Genotipizirano je 18 SNP-a povezanih s djelotvornošću lijekova u kineskoj populaciji, u 790 slučajeva BPH (330 agresivnih i 460 neagresivnih slučajeva BPH) i 1.008 kontrola. Svi pacijenti s BPH liječeni su α-adrenergijskim blokatorima najmanje devet mjeseci. Testirana je povezanost označavajućjednonukleotidnih ih polimorfizama i rizika/agresivnost BPH, kliničkih karakteristika na početku, uključujući Međunarodnu ocjenu simptoma prostate (IPSS) i ukupnog volumena prostate, te promjena u kliničkim karakteristikama nakon liječenja.

Nađeno je devet SNP-a povezanih s rizikom od BPH, kliničkom progresijom i terapijskim učinkom.

  • (1) U genima CYP3A4, CYP3A5 i RANBP3L nađeno je devet tSNP.
  • (2) SNP, rs16902947 u RANBP3L pri 5p13.2 (p=0,01), bio je značajno povezan s BPH.
  • (3) Nađena su dva SNP-a, rs16902947 u RANBP3L u 5p13.2 (p =0,0388) i rs4646437 u CYP3A4 u 7q21.1 (p =0,0325), povezani s učinkom lijeka.
  • (4) Utvrđeno je da alel "G" za rs16902947 predstavlja alele rizika za BPH (OR = 2,357, 95%CI 1,01-1,48). Alel "A" rs4646437 bio je povezan s nižim IPSS -om na početku (β = -0,4232, p =0,03255).

U zakljčcima naglašava se da su jednonukleotidni polimorfizmi rs16902947, rs16902947 i rs4646437 značajno povezani s kliničkim karakteristikama benigne hiperplazije prostate i djelotvornošću liječenja benigne hiperplazije prostate.[5]

Reference

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164188 - Ensembl, maj 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Entrez Gene: RAN binding protein 3-like". Pristupljeno 31. 10. 2012.
  5. ^ Xiaoqiang Qian, Ding Xu, Hailong Liu, Xiaoling Lin, Yongjiang Yu, Jian Kang, Xujun Sheng, Jianfeng Xu, Siqun Zheng, Danfeng Xu, Jun Qi (2017): Genetic variants in 5p13.2 and 7q21.1 are associated with treatment for benign prostatic hyperplasia with the α-adrenergic receptor antagonist. Aging Male, 20(4):250-256; pmid: 28787260: doi: 10.1080/13685538.2017.1358261

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