KATNBL1

KATNBL1
Identifikatori
Aliasi	KATNBL1
Vanjski ID-jevi	OMIM: 616235 MGI: 1919675 HomoloGene: 11495 GeneCards: KATNBL1
Lokacija gena (čovjek)
Hrom.	Hromosom 15 (čovjek)
Kraj	34,210,096 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	112,244,585 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• Jedarce; • spindle pole; • jedro; • citoplazma; • citoskelet; • mitotic spindle pole;
Biološki proces	• positive regulation of cytoskeleton organization;
	Izvori:Amigo / QuickGO
Ortolozi
	79768
	72425
	ENSG00000134152
	ENSMUSG00000027132
	Q9H079
	Q9CWJ3
	NM_024713
	NM_024254
	NP_078989
	NP_077216
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

KATNBL1 je protein koji je kod ljudi kodiran genom KATNBL1.^[5]^[6]

Katanini su ATPaze za razlaganje mikrotubula, a sastoje se od katalitskih i regulatornih podjedinica, koje reguliraju dužinu mitotskog vretena. Predviđa se da će KATNBL1 funkcionirati kao regulatorna podjedinica katanina (Roll-Mecak i McNally, 2010). Patricia Hartz (2015) mapirala je gen KATNBL1 u hromosom 15q14, na osnovu poravnanja sekvence KATNBL1 (GenBank AK026210) sa genomskom sekvencom (GRCh38).^[7]

Kloniranje i ekspresija

Analizom baze podataka, Roll-Mecak i McNally (2010) identificirali su C15ORF29 kao vjerovatnu regulatornu podjedinicu katanina. Međutim, za razliku od kanonske regulatorne podjedinice p80 katanina KATNB1, C15ORF29 nema N-terminalni WD40 domen i ima samo konzerviranu C-terminalni domen.^[8]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 304 aminokiseline, a molekulska težina 34.767 Da.^[9].

10	20	30	40	50
MASETHNVKK	RNFCNKIEDH	FIDLPRKKIS	NFTNKNMKEV	KKSPKQLAAY
INRTVGQTVK	SPDKLRKVIY	RRKKVHHPFP	NPCYRKKQSP	GSGGCDMANK
ENELACAGHL	PEKLHHDSRT	YLVNSSDSGS	SQTESPSSKY	SGFFSEVSQD
HETMAQVLFS	RNMRLNVALT	FWRKRSISEL	VAYLLRIEDL	GVVVDCLPVL
TNCLQEEKQY	ISLGCCVDLL	PLVKSLLKSK	FEEYVIVGLN	WLQAVIKRWW
SELSSKTEII	NDGNIQILKQ	QLSGLWEQEN	HLTLVPGYTG	NIAKDVDAYL
LQLH

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

Funkcija gena

Koristeći ljudske proteine eksprimirane u E. coli, McNally i McNally (2011) otkrili su da je C15ORF29 vezao stabilizirane mikrotubule in vitro. Dodavanjem katalitske kataninske podjedinice KATNAL1 povećan je afinitet vezanja mikrotubula iznad onog koji se mjeri za bilo koji protein. Analiza mutacije otkrila je da je C15ORF29 vezao KATNAL1 preko N-terminalnog domena.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134152 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027132 - 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.
^ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
^ "Entrez Gene: C15orf29 chromosome 15 open reading frame 29".
^ Hartz, P. A. Personal Communication. Baltimore, Md. 2/19/2015.
^ Roll-Mecak, A., McNally, F. J. Microtubule-severing enzymes. Curr. Opin. Cell Biol. 22: 96-103, 2010. PubMed: 19963362
^ "UniProt, Q9H079". Pristupljeno 15. 7. 2021.
^ McNally, K. P., McNally, F. J. The spindle assembly function of Caenorhabditis elegans katanin does not require microtubule-severing activity. Molec. Biol. Cell 22: 1550-1560, 2011. Note: Erratum: Molec. Biol. Cell 23: 4472 only, 2012. PubMed: 21372175

Dopunska literatura

Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.

Vanjski linkovi

Lokacija ljudskog genoma KATNBL1 i stranica sa detaljima o genu KATNBL1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134152 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027132 - 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.

[pmid11230166-5] Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.

[entrez-6] "Entrez Gene: C15orf29 chromosome 15 open reading frame 29".

[7] Hartz, P. A. Personal Communication. Baltimore, Md. 2/19/2015.

[8] Roll-Mecak, A., McNally, F. J. Microtubule-severing enzymes. Curr. Opin. Cell Biol. 22: 96-103, 2010. PubMed: 19963362

[UniProt-9] "UniProt, Q9H079". Pristupljeno 15. 7. 2021.

[10] McNally, K. P., McNally, F. J. The spindle assembly function of Caenorhabditis elegans katanin does not require microtubule-severing activity. Molec. Biol. Cell 22: 1550-1560, 2011. Note: Erratum: Molec. Biol. Cell 23: 4472 only, 2012. PubMed: 21372175

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