AMP-deaminaza 2

AMP-deaminaza 2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4NO3, 4NO5
Identifikatori
Aliasi	AMPD2
Vanjski ID-jevi	OMIM: 102771 MGI: 88016 HomoloGene: 2979 GeneCards: AMPD2
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	109,632,051 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	107,993,967 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• hydrolase activity; • vezivanje iona metala; • deaminase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • AMP deaminase activity;
Ćelijska komponenta	• ćelijska komponenta; • citosol;
Biološki proces	• purine ribonucleoside monophosphate biosynthetic process; • IMP salvage; • cyclic purine nucleotide metabolic process; • nucleotide metabolic process; • purine-containing compound salvage; • IMP biosynthetic process; • energy homeostasis; • AMP metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	271
	109674
	ENSG00000116337
	ENSMUSG00000027889
	Q01433
	Q9DBT5
NM_001257360; NM_001257361; NM_001308170; NM_004037; NM_139156;
	NM_203404; NM_001368809
	NM_001289719; NM_001289720; NM_028779; NM_001346665
NP_001244289; NP_001244290; NP_001295099; NP_004028; NP_631895;
	NP_001355738
	NP_001276648; NP_001276649; NP_001333594; NP_083055
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

AMP-deaminaza 2 jest enzim koji je kod ljudi kodiran genom AMPD2 sa hromosoma 1.^[5]^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 879 aminokiselina, a molekulska težina 100.688 Da.^[7]

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
MRNRGQGLFR	LRSRCFLHQS	LPLGAGRRKG	LDVAEPGPSR	CRSDSPAVAA
VVPAMASYPS	GSGKPKAKYP	FKKRASLQAS	TAAPEARGGL	GAPPLQSARS
LPGPAPCLKH	FPLDLRTSMD	GKCKEIAEEL	FTRSLAESEL	RSAPYEFPEE
SPIEQLEERR	QRLERQISQD	VKLEPDILLR	AKQDFLKTDS	DSDLQLYKEQ
GEGQGDRSLR	ERDVLEREFQ	RVTISGEEKC	GVPFTDLLDA	AKSVVRALFI
REKYMALSLQ	SFCPTTRRYL	QQLAEKPLET	RTYEQGPDTP	VSADAPVHPP
ALEQHPYEHC	EPSTMPGDLG	LGLRMVRGVV	HVYTRREPDE	HCSEVELPYP
DLQEFVADVN	VLMALIINGP	IKSFCYRRLQ	YLSSKFQMHV	LLNEMKELAA
QKKVPHRDFY	NIRKVDTHIH	ASSCMNQKHL	LRFIKRAMKR	HLEEIVHVEQ
GREQTLREVF	ESMNLTAYDL	SVDTLDVHAD	RNTFHRFDKF	NAKYNPIGES
VLREIFIKTD	NRVSGKYFAH	IIKEVMSDLE	ESKYQNAELR	LSIYGRSRDE
WDKLARWAVM	HRVHSPNVRW	LVQVPRLFDV	YRTKGQLANF	QEMLENIFLP
LFEATVHPAS	HPELHLFLEH	VDGFDSVDDE	SKPENHVFNL	ESPLPEAWVE
EDNPPYAYYL	YYTFANMAML	NHLRRQRGFH	TFVLRPHCGE	AGPIHHLVSA
FMLAENISHG	LLLRKAPVLQ	YLYYLAQIGI	AMSPLSNNSL	FLSYHRNPLP
EYLSRGLMVS	LSTDDPLQFH	FTKEPLMEEY	SIATQVWKLS	SCDMCELARN
SVLMSGFSHK	VKSHWLGPNY	TKEGPEGNDI	RRTNVPDIRV	GYRYETLCQE
LALITQAVQS	EMLETIPEEA	GITMSPGPQ

Funkcija

Visoki nivoi ekspresije AMPD2 koreliraju sa lošim ishodom pacijenata i proliferativnim tumorskim fenotipom kod nediferenciranog pleomorfnog sarkoma (UPS).^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116337 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027889 - 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.
^ Mahnke-Zizelman DK, Sabina RL (Nov 1992). "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons". J Biol Chem. 267 (29): 20866–77. doi:10.1016/S0021-9258(19)36768-7. PMID 1400401.
^ "Entrez Gene: AMPD2 adenosine monophosphate deaminase 2 (isoform L)".
^ "UniProt, Q01433" (jezik: engleski). Pristupljeno 21. 11. 2021.
^ Orth MF, Gerke JS, Knösel T, Altendorf-Hofmann A, Musa J, Alba-Rubio R, et al. (septembar 2018). "Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma". International Journal of Cancer. 144 (4): 859–867. doi:10.1002/ijc.31903. PMID 30267407.

Dopunska literatura

Bausch-Jurken MT, Mahnke-Zizelman DK, Morisaki T, Sabina RL (1992). "Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA". J. Biol. Chem. 267 (31): 22407–13. doi:10.1016/S0021-9258(18)41686-9. PMID 1429593.
Van den Bergh F, Sabina RL (1996). "Characterization of human AMP deaminase 2 (AMPD2) gene expression reveals alternative transcripts encoding variable N-terminal extensions of isoform L". Biochem. J. 312 (Pt 2): 401–10. doi:10.1042/bj3120401. PMC 1136276. PMID 8526848.
Mahnke-Zizelman DK, van den Bergh F, Bausch-Jurken MT, et al. (1996). "Cloning, sequence and characterization of the human AMPD2 gene: evidence for transcriptional regulation by two closely spaced promoters". Biochim. Biophys. Acta. 1308 (2): 122–32. doi:10.1016/0167-4781(96)00089-9. PMID 8764830.
Haas AL, Sabina RL (2003). "N-terminal extensions of the human AMPD2 polypeptide influence ATP regulation of isoform L". Biochem. Biophys. Res. Commun. 305 (2): 421–7. doi:10.1016/S0006-291X(03)00787-3. PMID 12745092.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
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.

Vanjski linkovi

Lokacija ljudskog genoma AMPD2 i stranica sa detaljima o genu AMPD2 u UCSC Genome Browseru.

Šablon:Enzimi metabolizma nukteotida

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116337 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027889 - 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.

[pmid1400401-5] Mahnke-Zizelman DK, Sabina RL (Nov 1992). "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons". J Biol Chem. 267 (29): 20866–77. doi:10.1016/S0021-9258(19)36768-7. PMID 1400401.

[entrez-6] "Entrez Gene: AMPD2 adenosine monophosphate deaminase 2 (isoform L)".

[UniProt-7] "UniProt, Q01433" (jezik: engleski). Pristupljeno 21. 11. 2021.

[8] Orth MF, Gerke JS, Knösel T, Altendorf-Hofmann A, Musa J, Alba-Rubio R, et al. (septembar 2018). "Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma". International Journal of Cancer. 144 (4): 859–867. doi:10.1002/ijc.31903. PMID 30267407.

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