CANT1

CANT1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1S18, 1S1D, 2H2N, 2H2U
Identifikatori
Aliasi	CANT1
Vanjski ID-jevi	OMIM: 613165 MGI: 1923275 HomoloGene: 69460 GeneCards: CANT1
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	79,009,867 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	118,309,912 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• uridine-diphosphatase activity; • hydrolase activity; • signal transducer activity; • nucleoside-diphosphatase activity; • vezivanje iona metala; • calcium ion binding; • protein homodimerization activity; • adenosine-diphosphatase activity; • guanosine-diphosphatase activity; • GO:0097382 Pirofosfataza;
Ćelijska komponenta	• integral component of membrane; • Golgi cisterna membrane; • Golđijev aparat; • Egzosom; • endoplasmic reticulum membrane; • Endoplazmatski retikulum; • extracellular region; • ćelijska membrana; • membrana; • specific granule lumen; • tertiary granule lumen; • ficolin-1-rich granule lumen;
Biološki proces	• positive regulation of I-kappaB kinase/NF-kappaB signaling; • proteoglycan biosynthetic process; • GO:0072468 Transdukcija signala; • neutrophil degranulation;
	Izvori:Amigo / QuickGO
Ortolozi
	124583
	76025
	ENSG00000171302
	ENSMUSG00000025575
	Q8WVQ1
	Q8VCF1
	NM_001159772; NM_001159773; NM_138793
	NM_001025617; NM_001025618; NM_001267591; NM_001267592; NM_029502
	NP_001153244; NP_001153245; NP_620148
	NP_001020788; NP_001020789; NP_001254520; NP_001254521; NP_083778
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

CANT1 je gen koji kodira kalcij-aktiviranu nukleotidazu 1, ljudski enzim.^[5]^[6]

Smith et al. (2002) utvrdili su da gen CANT1 sadrži šet egzona i obuhvata preko 19 kb. Analizom genomske sekvence, mapirali su gen CANT1 u hromosom 17q25.3.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 401 aminokiselina, a molekulska težina 44.840 Da.^[7]

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
MPVQLSEHPE	WNESMHSLRI	SVGGLPVLAS	MTKAADPRFR	PRWKVILTFF
VGAAILWLLC	SHRPAPGRPP	THNAHNWRLG	QAPANWYNDT	YPLSPPQRTP
AGIRYRIAVI	ADLDTESRAQ	EENTWFSYLK	KGYLTLSDSG	DKVAVEWDKD
HGVLESHLAE	KGRGMELSDL	IVFNGKLYSV	DDRTGVVYQI	EGSKAVPWVI
LSDGDGTVEK	GFKAEWLAVK	DERLYVGGLG	KEWTTTTGDV	VNENPEWVKV
VGYKGSVDHE	NWVSNYNALR	AAAGIQPPGY	LIHESACWSD	TLQRWFFLPR
RASQERYSEK	DDERKGANLL	LSASPDFGDI	AVSHVGAVVP	THGFSSFKFI
PNTDDQIIVA	LKSEEDSGRV	ASYIMAFTLD	GRFLLPETKI	GSVKYEGIEF
I

Kloniranje i ekspresija

1. Pretragom ljudske EST baze podataka za sekvence slične pljuvačnim apirazama stjenice Cimex lectularius i drugih hematofagnih člankonožaca, Smith et al. (2002) identificirali su CANT1, koji su nazvali SCAN1. Izvedeni protein od 371 aminokiselinom ima N-terminalni signalni peptid, a predviđeni zreli protein od 333 aminokiseline ima izračunatu molekulsku masu od 37,2 kD. Ima nekoliko navodnih mjesta fosforilacija, mjesto N-glikozilacije i mjesto sulfacije tirozina. Dot blot analiza RNK otkrila je najvišu ekspresiju SCAN1 u sjemenicima, a zatim u prostati, posteljici i tankim crijevima. Niža ekspresija otkrivena je u plućima, želucu, pljuvačnim žlijezdama, debelom crijevu, slezeni, timusu i dušniku, a u ostalim ispitivanim tkivima nije uočena bilo kakva ekspresija. Hromatografija isključivanja veličine i Western blot analiza otkrili zreli SCAN1 ima prividnu molekulsku masu od 34 do 40 kD, koja je smanjena nakon deglikozilacije.^[8] Koristeći [transfekcija|[transficirane]] COS-1 ćelije, pokazali su da se ljudski SCAN1 lučio i eksprimirao aktivnost kalcij-zavisne di– i trifosfataze protiv ADP i ATP. Nidu koristili magnezij kao kofaktor. SCAN1 je imao najveću aktivnost protiv UDP, GDP i UTP, a nije hidrolizirao AMP, GMP ili 4-nitrofenol fosfat. SCAN1 je pokazao aktivnost u širokom rasponu pH, sa optimalnom aktivnošću između pH 6,2 i 7,2.

Nizon et al. (2012) proučavali su sintezu proteoglikana kodiranu mutiranim genom CANT1 u fibroblastima pacijenata sa Desbuquoisovom displazijom (DBQD;) i otkrili značajno smanjenu sintezu GAG u prisustvu beta-D-ksilozida, sugerirajući da CANT1 imaa ulogu u metabolizmu proteoglikana.^[9]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171302 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025575 - 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.
^ Failer BU, Braun N, Zimmermann H (Sep 2002). "Cloning, expression, and functional characterization of a Ca(2+)-dependent endoplasmic reticulum nucleoside diphosphatase". J Biol Chem. 277 (40): 36978–86. doi:10.1074/jbc.M201656200. PMID 12167635.
^ "Entrez Gene: CANT1 calcium activated nucleotidase 1".
^ "UniProt, Q8WVQ1". Pristupljeno 26. 6. 2021.
^ Smith, T. M., Hicks-Berger, C. A., Kim, S., Kirley, T. L. Cloning, expression, and characterization of a soluble calcium-activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases. Arch. Biochem. Biophys. 406: 105-115, 2002. PubMed: 12234496
^ Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B. Y., Alanay, Y., Albrecht, B., Al-Gazali, L., Basaran, S. Y., and 18 others. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum. Mutat. 33: 1261-1266, 2012. PubMed: 22539336

Vanjski linkovi

Lokacija ljudskog genoma CANT1 i stranica sa detaljima o genu CANT1 u UCSC Genome Browseru.

Dopunska literatura

Smith TM, Hicks-Berger CA, Kim S, Kirley TL (2002). "Cloning, expression, and characterization of a soluble calcium-activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases". Arch. Biochem. Biophys. 406 (1): 105–15. doi:10.1016/S0003-9861(02)00420-4. PMID 12234496.
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.
Murphy DM, Ivanenkov VV, Kirley TL (2003). "Bacterial expression and characterization of a novel, soluble, calcium-binding, and calcium-activated human nucleotidase". Biochemistry. 42 (8): 2412–21. doi:10.1021/bi026763b. PMID 12600208.
Matsuda A, Suzuki Y, Honda G, et al. (2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi:10.1038/sj.onc.1206406. PMID 12761501.
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.
Dai J, Liu J, Deng Y, et al. (2004). "Structure and protein design of a human platelet function inhibitor". Cell. 116 (5): 649–59. doi:10.1016/S0092-8674(04)00172-2. PMID 15006348. S2CID 15305441.
Yang M, Kirley TL (2004). "Site-directed mutagenesis of human soluble calcium-activated nucleotidase 1 (hSCAN-1): identification of residues essential for enzyme activity and the Ca(2+)-induced conformational change". Biochemistry. 43 (28): 9185–94. doi:10.1021/bi049565o. PMID 15248776.
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.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171302 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025575 - 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.

[pmid12167635-5] Failer BU, Braun N, Zimmermann H (Sep 2002). "Cloning, expression, and functional characterization of a Ca(2+)-dependent endoplasmic reticulum nucleoside diphosphatase". J Biol Chem. 277 (40): 36978–86. doi:10.1074/jbc.M201656200. PMID 12167635.

[entrez-6] "Entrez Gene: CANT1 calcium activated nucleotidase 1".

[UniProt-7] "UniProt, Q8WVQ1". Pristupljeno 26. 6. 2021.

[8] Smith, T. M., Hicks-Berger, C. A., Kim, S., Kirley, T. L. Cloning, expression, and characterization of a soluble calcium-activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases. Arch. Biochem. Biophys. 406: 105-115, 2002. PubMed: 12234496

[9] Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B. Y., Alanay, Y., Albrecht, B., Al-Gazali, L., Basaran, S. Y., and 18 others. Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum. Mutat. 33: 1261-1266, 2012. PubMed: 22539336

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