DDX24

DDX24
Identifikatori
Aliasi	DDX24
Vanjski ID-jevi	OMIM: 606181 MGI: 1351337 HomoloGene: 10702 GeneCards: DDX24
Lokacija gena (čovjek) Hrom. Hromosom 14 (čovjek)[1] Bend 14q32.12 Početak 94,048,287 bp[1] Kraj 94,081,202 bp[1]
Lokacija gena (miš) Hrom. Hromosom 12 (miš)[2] Bend 12|12 E Početak 103,374,241 bp[2] Kraj 103,392,089 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • RNA helicase activity • nucleotide binding • hydrolase activity • ATP binding • GO:0008026 helicase activity • nucleic acid binding • vezivanje sa RNK Ćelijska komponenta • membrana • Jedarce • citoplazma Biološki proces • RNA metabolic process • RNA secondary structure unwinding Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	57062	27225
Ensembl	ENSG00000089737	ENSMUSG00000041645
UniProt	Q9GZR7	Q9ESV0
RefSeq (mRNK)	NM_020414	NM_001159502 NM_020494 NM_001364162 NM_001364163
RefSeq (bjelančevina)	NP_065147	NP_001152974 NP_065240 NP_001351091 NP_001351092
Lokacija (UCSC)	Chr 14: 94.05 – 94.08 Mb	Chr 12: 103.37 – 103.39 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

ATP-ovisna RNK-helikaza DDX24 je enzim koji je kod ljudi kodiran genom DDX24.^[5][6]

DEAD-boksni proteini, poput DDX24, pretpostavljene su RNK-helikaze, koje posreduju odmotavanju dvolančane RNK ovisno o nukleozid-trifosfatu. U svojoj osnovnoj regiji, proteini DEAD-boksa sadrže devet konzerviranih motiva, od kojih jedan, asp–glu–ala–asp (DEAD), daje ime porodici.

Zhao et al. (2000) utvrdili su da se gen DDX24 proteže na 30 kb i da sadrži najmanje devet egzona. Radijacijskom hibridnom analizom, mapirali su gen DDX24 na poziciji 14q32.^[7]

Uključeni su u brojne molekulske procese ćelija koji uključuju izmjenu sekundarne strukture RNK, kao što je translacija inicijacija, jedarna i mitohondrijska prerada RNK i sklapanje ribosoma i splajsosoma. Na osnovu njihovih obrazaca raspodjele, vjeruje se da su neki članovi ove porodice uključeni u embriogenezu, spermatogenezu, rast i diobu ćelija. Ovaj gen kodira protein DEAD-boksa, koji pokazuje malu sličnost sa bilo kojim njegovim drugim poznatim ljudskim proteinima, ali pokazuje veliku sličnost s mišjim Ddx24 na nivou aminokiselina.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 859 aminokiselina, a molekulska težina 96.332 Da.^[8].

10		20		30		40		50
MKLKDTKSRP		KQSSCGKFQT		KGIKVVGKWK		EVKIDPNMFA		DGQMDDLVCF
EELTDYQLVS		PAKNPSSLFS		KEAPKRKAQA		VSEEEEEEEG		KSSSPKKKIK
LKKSKNVATE		GTSTQKEFEV		KDPELEAQGD		DMVCDDPEAG		EMTSENLVQT
APKKKKNKGK		KGLEPSQSTA		AKVPKKAKTW		IPEVHDQKAD		VSAWKDLFVP
RPVLRALSFL		GFSAPTPIQA		LTLAPAIRDK		LDILGAAETG		SGKTLAFAIP
MIHAVLQWQK		RNAAPPPSNT		EAPPGETRTE		AGAETRSPGK		AEAESDALPD
DTVIESEALP		SDIAAEARAK		TGGTVSDQAL		LFGDDDAGEG		PSSLIREKPV
PKQNENEEEN		LDKEQTGNLK		QELDDKSATC		KAYPKRPLLG		LVLTPTRELA
VQVKQHIDAV		ARFTGIKTAI		LVGGMSTQKQ		QRMLNRRPEI		VVATPGRLWE
LIKEKHYHLR		NLRQLRCLVV		DEADRMVEKG		HFAELSQLLE		MLNDSQYNPK
RQTLVFSATL		TLVHQAPARI		LHKKHTKKMD		KTAKLDLLMQ		KIGMRGKPKV
IDLTRNEATV		ETLTETKIHC		ETDEKDFYLY		YFLMQYPGRS		LVFANSISCI
KRLSGLLKVL		DIMPLTLHAC		MHQKQRLRNL		EQFARLEDCV		LLATDVAARG
LDIPKVQHVI		HYQVPRTSEI		YVHRSGRTAR		ATNEGLSLML		IGPEDVINFK
KIYKTLKKDE		DIPLFPVQTK		YMDVVKERIR		LARQIEKSEY		RNFQACLHNS
WIEQAAAALE		IELEEDMYKG		GKADQQEERR		RQKQMKVLKK		ELRHLLSQPL
FTESQKTKYP		TQSGKPPLLV		SAPSKSESAL		SCLSKQKKKK		TKKPKEPQPE
QPQPSTSAN

Simboli

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

Kloniranje i ekspresija

Pregledom EST baze podataka za sekvence s uzorkom DEAD-boksne helikaze, nakon čega slijedi PCR na bibliotekama cDNK sjemenika i leukemije, gorepomenuti Zhao et al. (2000) dobili su cDNK koje kodiraju DDX24 čovjeka i miša. Izvedeni ljudskii protein s 859 aminokiselina je 79% identičan mišjem proteinu, ali samo 40% identičan ostalim ljudskim članovima porodice u jezgri regije. DDX24 sadrži sve sačuvane DDX motive, uključujući one za aktivnosti helikaza, ATPaza i RNK-interakcija, ali ima razmak od 150 aminokiselina između motiva I i Ia, umjesto uobičajenog od 24 do 42 aminokiselina. Northern blot analiza otkrila je sveprisutnu ekspresiju transkripta od 3,0 kb, s najvišim nivoima u srcu i mozgu i jedva uočljivim nivoima u timusu i tankom crijevu.

Reference

1. GRCh38: Ensembl release 89: ENSG00000089737 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041645 - 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. Zhao Y, Yu L, Fu Q, Chen W, Jiang J, Gao J, Zhao S (Sep 2000). "Cloning and characterization of human DDX24 and mouse Ddx24, two novel putative DEAD-Box proteins, and mapping DDX24 to human chromosome 14q32". Genomics. 67 (3): 351–5. doi:10.1006/geno.2000.6255. PMID 10936056.
6. "Entrez Gene: DDX24 DEAD (Asp-Glu-Ala-Asp) box polypeptide 24".
7. Zhao, Y., Yu, L., Fu, Q., Chen, W., Jiang, J., Gao, J., Zhao, S. Cloning and characterization of human DDX24 and mouse Ddx24, two novel putative DEAD-box proteins, and mapping DDX24 to human chromosome 14q32. Genomics 67: 351-355, 2000. PubMed: 10936056
8. "UniProt, Q9GZR7". Pristupljeno 23. 7. 2021.

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