TSEN54

TSEN54
Identifikatori
Aliasi	TSEN54
Vanjski ID-jevi	OMIM: 608755 MGI: 1923515 HomoloGene: 35476 GeneCards: TSEN54
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	75,524,735 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	115,713,920 bp
Ontologija gena
Molekularna funkcija	• tRNA-intron endonuclease activity; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• Jedarce; • jedro; • tRNA-intron endonuclease complex; • nukleoplazma;
Biološki proces	• mRNA processing; • tRNA-type intron splice site recognition and cleavage; • RNA phosphodiester bond hydrolysis, endonucleolytic; • tRNA splicing, via endonucleolytic cleavage and ligation; • RNA phosphodiester bond hydrolysis; • tRNA processing;
	Izvori:Amigo / QuickGO
Ortolozi
	283989
	76265
	ENSG00000182173
	ENSMUSG00000020781
	Q7Z6J9
	Q8C2A2
	NM_207346
	NM_029557
	NP_997229
	NP_083833
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podjedinica 54 preradne endonuklaze tRNK je proteinska podjedinica koju kod ljudi kodira gen TSEN54.^[5]

Dužina polipeptidnog lanca je 526 aminokiselina, a molekulska težina 58.819.^[6].

Aminokiselinska sekvenca

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

10	20	30	40	50
MEPEPEPAAV	EVPAGRVLSA	RELFAARSRS	QKLPQRSHGP	KDFLPDGSAA
QAERLRRCRE	ELWQLLAEQR	VERLGSLVAA	EWRPEEGFVE	LKSPAGKFWQ
TMGFSEQGRQ	RLHPEEALYL	LECGSIHLFH	QDLPLSIQEA	YQLLLTDHTV
TFLQYQVFSH	LKRLGYVVRR	FQPSSVLSPY	ERQLNLDASV	QHLEDGDGKR
KRSSSSPRSI	NKKAKALDNS	LQPKSLAASS	PPPCSQPSQC	PEEKPQESSP
MKGPGGPFQL	LGSLGPSPGP	AREGVGCSWE	SGRAENGVTG	AGKRRWNFEQ
ISFPNMASDS	RHTLLRAPAP	ELLPANVAGR	ETDAESWCQK	LNQRKEKLSR
REREHHAEAA	QFQEDVNADP	EVQRCSSWRE	YKELLQRRQV	QRSQRRAPHL
WGQPVTPLLS	PGQASSPAVV	LQHISVLQTT	HLPDGGARLL	EKSGGLEIIF
DVYQADAVAT	FRKNNPGKPY	ARMCISGFDE	PVPDLCSLKR	LSYQSGDVPL
IFALVDHGDI	SFYSFRDFTL	PQDVGH

Funkcija

Ovaj gen kodira podjedinicu kompleksa tRNK koji prerađuje endonukleaze, za katalizu uklanjanja introna iz prekursorne tRNK. Kompleks je također uključen u prajmere za obradu pre-iRNK 3-.

Klinički značaj

Mutacije u ovom genu rezultiraju pontocerebelumskom hipoplazijom tipa 2. Sepahvand et al. saopćili su da zbog jako preklapajućih fenotipova sa dobro opisanim tipovima PCH, npr. PCH2, PCH4 i PCH5, treba koristiti pojam "TSENopatije", koji obuhvata sve opisane fenotipove PCH.^[7] Također su izvijestili da je pokraj Galenove vene otkriven infratentorijski hronični subdurni hematom koji je razvijen u liniji prednjeg plana, supra– i infratentoriska atrofija, te hipoplazija ponsa, malog i zadnjeg mozga, odgođena cerebelumska mijelinizacija i gubitak volumena i sive i bijele mase, odsutnost presavijanja olivskog jezgra i gubitak poprečnih vlakana ponsa. Ekstraksijalni prostor likvora bio je evidentan i zbog atrofije mozga. O dva nova fenotipa također su izvijestili Sepahvand et al. kao strukturne bolesti srca, uključujući veliki otvoreni foramen ovale (> 23 mikro mjehurića), kanal ductus arteriosus i blagu regurgaciju trokvržičnog i mitralnog zaliska, te bilateralno umjereni senzorinervni gubitak sluha.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000182173 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020781 - 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: TRNA splicing endonuclease subunit 54". Pristupljeno 18. 10. 2016.
^ "UniProt, Q7Z6J9". Pristupljeno June 14, 2021.
^ ^a ^b Sepahvand A, Razmara E, Bitarafan F, Galehdari M, Tavasoli AR, Almadani N, Garshasbi M (juli 2020). "A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family". EMolecular Genetics and Genomic Medicine. 8 (10): e1413. doi:10.1002/mgg3.1413. PMC 7549571. PMID 32697043.

Dopunska literatura

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F (2008). "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia". Nat. Genet. 40 (9): 1113–8. doi:10.1038/ng.204. PMID 18711368. S2CID 205345070.
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E (2010). "Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies". Neurology. 75 (16): 1459–64. doi:10.1212/WNL.0b013e3181f88173. PMID 20956791. S2CID 13619763.
Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY (2011). "Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development". J. Child Neurol. 26 (3): 288–94. doi:10.1177/0883073810380047. PMID 21383226. S2CID 27332548.
Simonati A, Cassandrini D, Bazan D, Santorelli FM (2011). "TSEN54 mutation in a child with pontocerebellar hypoplasia type 1". Acta Neuropathol. 121 (5): 671–3. doi:10.1007/s00401-011-0823-1. PMID 21468723. S2CID 30764162.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000182173 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020781 - 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: TRNA splicing endonuclease subunit 54". Pristupljeno 18. 10. 2016.

[UniProt-6] "UniProt, Q7Z6J9". Pristupljeno June 14, 2021.

[Sepahvand_etal-7] Sepahvand A, Razmara E, Bitarafan F, Galehdari M, Tavasoli AR, Almadani N, Garshasbi M (juli 2020). "A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family". EMolecular Genetics and Genomic Medicine. 8 (10): e1413. doi:10.1002/mgg3.1413. PMC 7549571. PMID 32697043.

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