RNU4ATAC

U4atac U12-ovisnog splajsinga jesta mala jedarna RNK koji je kod ljudi kodiran genom RNU4ATAC sa hromosoma 2.

RNU4ATAC
Identifikatori
Aliasi	RNU4ATAC
Vanjski ID-jevi	OMIM: 601428 GeneCards: RNU4ATAC
Lokacija gena (čovjek) Hrom. Hromosom 2 (čovjek) Bend 2q14.2 Početak 121,530,881 bp Kraj 121,531,007 bp
Ortolozi
Vrste	Čovjek	Miš
Entrez	100151683	n/a
Ensembl	ENSG00000264229	n/a
UniProt	n a	n/a
RefSeq (mRNK)	n/a	n/a
RefSeq (bjelančevina)	n/a	n/a
Lokacija (UCSC)	Chr 2: 121.53 – 121.53 Mb	n/a
PubMed pretraga		n/a
Wikipodaci
Pogledaj/uredi – čovjek

Mala jedarna RNK (snRNA) koju kodira ovaj gen dio je U12-zavisnog manjeg splajsosomskog kompleksa. Pored kodirajuće RNK, ovaj ribonukleoproteinski kompleks sastoji se od U11, U12, U5 i U6atac snRNK. U12-ovismi splajsosom je potreban za oreradu približno 700 specifičnih introna u ljudskom genomu.

Genomika

Gen „RNU4ATAC“ nalazi se na hromosomu 2 (sekvenca2q14.2). To je jedna kopija gena koja je ugrađena u intron proteina koji kodira CLASP1 gen, ali je transkribovan u antisens smjeru od CLASP1.

Klinički značaj

Defekti ovog gena uzrok su nekoliko ljudskih nasljednih sindroma od kojih svi pokazuju autosomno recesivno nasljeđivanje. To uključuje Taybi-Linderov sindrom (mikrocefalni osteodisplazilku primarnu osteodisplazijsku patuljavoat tip 1 (MOPD1), Roifmanov sindrom i Lowry-Woodov sindrom.

Dopunska literatura

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