KANSL2

KANSL2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4CY2
Identifikatori
Aliasi	KANSL2
Vanjski ID-jevi	OMIM: 615488 MGI: 1916862 HomoloGene: 32367 GeneCards: KANSL2
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	48,682,238 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	98,432,145 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• histone acetyltransferase activity (H4-K5 specific); • histone acetyltransferase activity (H4-K16 specific); • GO:0001948, GO:0016582 vezivanje za proteine; • histone acetyltransferase activity (H4-K8 specific);
Ćelijska komponenta	• histone acetyltransferase complex; • jedro; • nukleoplazma; • citosol; • ćelijska membrana; • actin cytoskeleton; • NSL complex;
Biološki proces	• histone H4-K16 acetylation; • histone H4-K8 acetylation; • histone H4-K5 acetylation; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization;
	Izvori:Amigo / QuickGO
Ortolozi
	54934
	69612
	ENSG00000139620
	ENSMUSG00000022992
	Q9H9L4
	Q8BQR4
	NM_017822
NM_001289437; NM_001289438; NM_001289439; NM_001289440; NM_133714;
	NM_001359827
	NP_060292
NP_001276366; NP_001276367; NP_001276368; NP_001276369; NP_598475;
	NP_001346756
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podjedinica 2 KAT8 regulacijskog kompleksa NSL (KANSL2), znana i kao nespecifično letalni homolog 2, (NSL2) je protein kojimje kod ljudi kodiran genom KANSL2.^[5]^[6]

Analizom genomskih sekvenci, Mata et al. (2003) mapirali su gen KANSL2 na hromosomu 12, sekvenca q13.11, gdje se nalazi između gena ciklin T1 (CCNT1 i gena za alfa-laktalbumin (LALBA). Mapirali su i mišji gen Kansl2 u područje hromosoma 15F1, koje dijeli homologiju sintenije s ljudskim hromosomom 12q31.11. Identificirali su KANSL2, koji su nazvali FLJ20436. Analiza baze podataka otkrila je dvije ljudske varijante KANSL2 koje su inicirane na alternativnim početnim mjestima transkripcije. Kod miša, Kansl2 je sveprisutno eksprimiran.^[7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 492 aminokiseline, a molekulska težina 55.042 Da.^[8].

10	20	30	40	50
MNRIRIHVLP	TNRGRITPVP	RSQEPLSCAF	THRPCSHPRL	EGQEFCIKHI
LEDKNAPFKQ	CSYISTKNGK	RCPNAAPKPE	KKDGVSFCAE	HVRRNALALH
AQMKKTNPGP	VGETLLCQLS	SYAKTELGSQ	TPESSRSEAS	RILDEDSWSD
GEQEPITVDQ	TWRGDPDSEA	DSIDSDQEDP	LKHAGVYTAE	EVALIMREKL
IRLQSLYIDQ	FKRLQHLLKE	KKRRYLHNRK	VEHEALGSSL	LTGPEGLLAK
ERENLKRLKC	LRRYRQRYGV	EALLHRQLKE	RRMLATDGAA	QQAHTTRSSQ
RCLAFVDDVR	CSNQSLPMTR	HCLTHICQDT	NQVLFKCCQG	SEEVPCNKPV
PVSLSEDPCC	PLHFQLPPQM	YKPEQVLSVP	DDLEAGPMDL	YLSAAELQPT
ESLPLEFSDD	LDVVGDGMQC	PPSPLLFDPS	LTLEDHLVKE	IAEDPVDILG
QMQMAGDGCR	SQGSRNSEKA	SAPLSQSGLA	TANGKPEPTS	IS

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

Struktura gena[uredi | uredi izvor]

Mata et al. (2003) utvrdili su da gen KANSL2 sadrži 10 egzona. Egzon 1 nije kodirajući, a egzoni 3, 7 i 8 su alternativno prerađeni. Egzoni 2 i 4 sadrže translacijske početne kodone, a egzoni 7 i 10 translacijske stop kodone. Scott et al. (2009) utvrdili su da se preklapajuće nekodirajuće RNK SNORA34 i MIR1291 nalaze unutar intronske regije KANSL2.^[9]

Funkcija gena[uredi | uredi izvor]

Upotrebom MCRS1 sa oznakom epitopa za imunoprecipitaciju proteina iz ćelija HEK293 i HeLa, nakon čega slijedi masena spektrometrija i Western blot analiza, Cai et al. (2010) identifikovali su NSL2 kao podjedinicu kompleksa NSL histon-acetiltransferaze. Druge komponente ovog kompleksa bile su MOF (MYST1), NSL1 (KANSL1), NSL3 (KANSL3), PHF20, OGT1 (OGT), WDR5 i HCF1 (HCFC1). NSL kompleks acetilirao je histon H4 na lys5 (K5), K8 i K16, ali ne i na K12. Cai, Y., Jin, J., Swanson, S. K., Cole, M. D., Choi, S. H., Florens, L., Washburn, M. P., Conaway, J. W., Conaway, R. C. Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex. J. Biol. Chem. 285: 4268-4272, 2010. PubMed: 20018852</ref>

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139620 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022992 - 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.
^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
^ "Entrez Gene: C12orf41 chromosome 12 open reading frame 41".
^ Mata, X., Taourit, S., Le Provost, F. Putative FLJ20436 characterisation in goat: observed ubiquitous expression in goat and transgenic mice allowed to restrict the location of an hypothesised insulator element. Gene 321: 137-144, 2003. PubMed: 14637001
^ "UniProt, Q9H9L4". Pristupljeno 10. 8. 2021.
^ Scott, M. S., Avolio, F., Ono, M., Lamond, A. I., Barton, G. J. Human miRNA precursors with box H/ACA snoRNA features. PLoS Comput. Biol. 5: e1000507, 2009. Note: Electronic Article. PubMed: 19763159

Dopunska literatura[uredi | uredi izvor]

Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Mata X, Taourit S, Le Provost F (2004). "Putative FLJ20436 gene characterisation in goat. Observed ubiquitous expression in goat and transgenic mice allowed to restrict the location of an hypothesised insulator element". Gene. 321: 137–44. doi:10.1016/j.gene.2003.08.004. PMID 14637001.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139620 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022992 - 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.

[pmid12477932-5] Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA (Dec 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc Natl Acad Sci U S A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

[entrez-6] "Entrez Gene: C12orf41 chromosome 12 open reading frame 41".

[7] Mata, X., Taourit, S., Le Provost, F. Putative FLJ20436 characterisation in goat: observed ubiquitous expression in goat and transgenic mice allowed to restrict the location of an hypothesised insulator element. Gene 321: 137-144, 2003. PubMed: 14637001

[UniProt-8] "UniProt, Q9H9L4". Pristupljeno 10. 8. 2021.

[9] Scott, M. S., Avolio, F., Ono, M., Lamond, A. I., Barton, G. J. Human miRNA precursors with box H/ACA snoRNA features. PLoS Comput. Biol. 5: e1000507, 2009. Note: Electronic Article. PubMed: 19763159

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