DIS3L2

DIS3L2
Identifikatori
Aliasi	DIS3L2
Vanjski ID-jevi	OMIM: 614184 MGI: 2442555 HomoloGene: 62417 GeneCards: DIS3L2
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	232,344,350 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	86,977,817 bp
Ontologija gena
Molekularna funkcija	• 3'-5'-exoribonuclease activity; • poly(U) RNA binding; • vezivanje iona metala; • ribonuclease activity; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje sa RNK; • nuclease activity; • exonuclease activity; • hydrolase activity; • magnesium ion binding;
Ćelijska komponenta	• citoplazma; • polysome; • P-tijelo; • Egzosomski kompleks;
Biološki proces	• miRNA catabolic process; • nucleic acid phosphodiester bond hydrolysis; • nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'; • Ćelijska dioba; • stem cell population maintenance; • rRNA processing; • ćelijski ciklus; • mitotic sister chromatid separation; • negative regulation of cell population proliferation; • RNA phosphodiester bond hydrolysis, exonucleolytic; • RNA phosphodiester bond hydrolysis; • nuclear-transcribed mRNA catabolic process, exonucleolytic; • polyuridylation-dependent mRNA catabolic process; • GO:0007067 Mitoza; • RNA catabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	129563
	208718
	ENSG00000144535
	ENSMUSG00000053333
	Q8IYB7
	Q8CI75
	NM_001257281; NM_001257282; NM_152383
	NM_001172157; NM_153530
	NP_001244210; NP_001244211; NP_689596
	NP_001165628; NP_705758
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kvascoliki homolog 2 DIS3 mitotske kontrole jest protein koji je kod ljudi kodiran genom DIS3L2 sa hromosoma 2.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 885 aminokiselina, a molekulska težina 99.279 Da.^[6].

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MSHPDYRMNL	RPLGTPRGVS	AVAGPHDIGA	SPGDKKSKNR	STRGKKKSIF
ETYMSKEDVS	EGLKRGTLIQ	GVLRINPKKF	HEAFIPSPDG	DRDIFIDGVV
ARNRALNGDL	VVVKLLPEEH	WKVVKPESND	KETEAAYESD	IPEELCGHHL
PQQSLKSYND	SPDVIVEAQF	DGSDSEDGHG	ITQNVLVDGV	KKLSVCVSEK
GREDGDAPVT	KDETTCISQD	TRALSEKSLQ	RSAKVVYILE	KKHSRAATGF
LKLLADKNSE	LFRKYALFSP	SDHRVPRIYV	PLKDCPQDFV	ARPKDYANTL
FICRIVDWKE	DCNFALGQLA	KSLGQAGEIE	PETEGILTEY	GVDFSDFSSE
VLECLPQGLP	WTIPPEEFSK	RRDLRKDCIF	TIDPSTARDL	DDALSCKPLA
DGNFKVGVHI	ADVSYFVPEG	SDLDKVAAER	ATSVYLVQKV	VPMLPRLLCE
ELCSLNPMSD	KLTFSVIWTL	TPEGKILDEW	FGRTIIRSCT	KLSYEHAQSM
IESPTEKIPA	KELPPISPEH	SSEEVHQAVL	NLHGIAKQLR	QQRFVDGALR
LDQLKLAFTL	DHETGLPQGC	HIYEYRESNK	LVEEFMLLAN	MAVAHKIHRA
FPEQALLRRH	PPPQTRMLSD	LVEFCDQMGL	PVDFSSAGAL	NKSLTQTFGD
DKYSLARKEV	LTNMCSRPMQ	MALYFCSGLL	QDPAQFRHYA	LNVPLYTHFT
SPIRRFADVL	VHRLLAAALG	YRERLDMAPD	TLQKQADHCN	DRRMASKRVQ
ELSTSLFFAV	LVKESGPLES	EAMVMGILKQ	AFDVLVLRYG	VQKRIYCNAL
ALRSHHFQKV	GKKPELTLVW	EPEDMEQEPA	QQVITIFSLV	EVVLQAESTA
LKYSAILKRP	GTQGHLGPEK	EEEESDGEPE	DSSTS

Funkcija

Protein kodiran ovim genom sličan je u sekvenci 3'/5' egzonukleolitskim podjedinicama RNK egzosoma. Egzosom je veliki multimerni ribonukleotidni kompleks odgovoran za razgradnju različitih RNK supstrata. Za ovaj gen je pronađeno nekoliko varijanti transkripta, od kojih s neke koje kodirajuće, a neke ne (prema RefSeq, mart 2012).

Klinički značaj

Mutacije u DIS3L2 uzrokuju Perlmanov sindrom.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000144535 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000053333 - 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.
^ "Entrez Gene: DIS3 mitotic control homolog (S. cerevisiae)-like 2". Pristupljeno 10. 3. 2013.
^ "UniProt, Q8IYB7" (jezik: engleski). Pristupljeno 16. 11. 2021.
^ "OMIM Entry - # 267000 - PERLMAN SYNDROME; PRLMNS". www.omim.org. Pristupljeno 25. 1. 2020.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000144535 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000053333 - 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.

[entrez-5] "Entrez Gene: DIS3 mitotic control homolog (S. cerevisiae)-like 2". Pristupljeno 10. 3. 2013.

[UniProt-6] "UniProt, Q8IYB7" (jezik: engleski). Pristupljeno 16. 11. 2021.

[7] "OMIM Entry - # 267000 - PERLMAN SYNDROME; PRLMNS". www.omim.org. Pristupljeno 25. 1. 2020.

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