DIS3L2

DIS3L2
Identifikatori
Aliasi	DIS3L2
Vanjski ID-jevi	OMIM: 614184 MGI: 2442555 HomoloGene: 62417 GeneCards: DIS3L2
Lokacija gena (čovjek) Hrom. Hromosom 2 (čovjek)[1] Bend 2q37.1 Početak 231,961,245 bp[1] Kraj 232,344,350 bp[1]
Lokacija gena (miš) Hrom. Hromosom 1 (miš)[2] Bend 1|1 C5 Početak 86,631,530 bp[2] Kraj 86,977,817 bp[2]
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
Vrste	Čovjek	Miš
Entrez	129563	208718
Ensembl	ENSG00000144535	ENSMUSG00000053333
UniProt	Q8IYB7	Q8CI75
RefSeq (mRNK)	NM_001257281 NM_001257282 NM_152383	NM_001172157 NM_153530
RefSeq (bjelančevina)	NP_001244210 NP_001244211 NP_689596	NP_001165628 NP_705758
Lokacija (UCSC)	Chr 2: 231.96 – 232.34 Mb	Chr 1: 86.63 – 86.98 Mb
PubMed pretraga	[3]	[4]
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

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