TALDO1

Transaldolaza 1 je proteinski enzim koji je kod ljudi kodiran genom TALDO1.

TALDO1
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1F05
Identifikatori
Aliasi	TALDO1
Vanjski ID-jevi	OMIM: 602063 MGI: 1274789 HomoloGene: 4916 GeneCards: TALDO1
Lokacija gena (čovjek) Hrom. Hromosom 11 (čovjek) Bend 11p15.5 Početak 747,415 bp Kraj 765,012 bp
Lokacija gena (miš) Hrom. Hromosom 7 (miš) Bend 7|7 F5 Početak 140,972,112 bp Kraj 140,982,881 bp
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • transaldolase activity • catalytic activity • GO:0001948, GO:0016582 vezivanje za proteine • monosaccharide binding • carbohydrate binding Ćelijska komponenta • citoplazma • citosol • Egzosom • intracellular membrane-bounded organelle • jedro • nukleoplazma Biološki proces • fructose 6-phosphate metabolic process • pentose-phosphate shunt • pentose-phosphate shunt, non-oxidative branch • xylulose biosynthetic process • glyceraldehyde-3-phosphate metabolic process • interleukin-12-mediated signaling pathway • carbohydrate metabolic process Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	6888	21351
Ensembl	ENSG00000177156	ENSMUSG00000025503
UniProt	P37837	Q93092
RefSeq (mRNK)	NM_006755	NM_011528
RefSeq (bjelančevina)	NP_006746	NP_035658
Lokacija (UCSC)	Chr 11: 0.75 – 0.77 Mb	Chr 7: 140.97 – 140.98 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 337 aminokiselina, а molekulska težina 37.540 Da.

• 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
MSSSPVKRQR		MESALDQLKQ		FTTVVADTGD		FHAIDEYKPQ		DATTNPSLIL
AAAQMPAYQE		LVEEAIAYGR		KLGGSQEDQI		KNAIDKLFVL		FGAEILKKIP
GRVSTEVDAR		LSFDKDAMVA		RARRLIELYK		EAGISKDRIL		IKLSSTWEGI
QAGKELEEQH		GIHCNMTLLF		SFAQAVACAE		AGVTLISPFV		GRILDWHVAN
TDKKSYEPLE		DPGVKSVTKI		YNYYKKFSYK		TIVMGASFRN		TGEIKALAGC
DFLTISPKLL		GELLQDNAKL		VPVLSAKAAQ		ASDLEKIHLD		EKSFRWLHNE
DQMAVEKLSD		GIRKFAADAV		KLERMLTERM		FNAENGK

Funkcija

Transaldolaza 1 je ključni enzim neoksidativnog puta pentoznog fosfata koji osigurava riboza-5-fosfat za sintezu nukleinske kiseline i NADPH za biosintezu lipida. Ovaj put također može održavati glutation u reduciranom stanju i na taj način štititi sulfhidrilne grupe i ćelijskii integritet od kisikovih radikala. Funkcionalni gen transaldolaze 1 nalazi se na hromosomu 11, a pseudogen je identifikovan na hromosomu 1, ali postoje različite lokacije na mapi. Drugi i treći egzon ovog gena razvijeni su insercijom retrotranspozibilnog elementa. Smatra se da je ovaj gen uključen u multiplu sklerozu (obezbedio RefSeq, juli 2008).

Dopunska literatura

• Grossman CE, Qian Y, Banki K, Perl A (2004). "ZNF143 mediates basal and tissue-specific expression of human transaldolase". J. Biol. Chem. 279 (13): 12190–205. doi:10.1074/jbc.M307039200. PMID 14702349.
• Huang JB, Espinoza J, Romero R, Petty HR (2005). "Transaldolase is part of a supramolecular complex containing glucose-6-phosphate dehydrogenase in human neutrophils that undergoes retrograde trafficking during pregnancy". Metab. Clin. Exp. 54 (8): 1027–33. doi:10.1016/j.metabol.2005.03.005. PMID 16092052.
• Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM (2006). "Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease". J. Pediatr. 149 (5): 713–7. doi:10.1016/j.jpeds.2006.08.016. PMID 17095351.
• Silberstein M, Landon MR, Wang YE, Perl A, Vajda S (2006). "Computational methods for functional site identification suggest a substrate access channel in transaldolase". Genome Inform. 17 (1): 13–22. PMID 17503352.
• Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C (2007). "Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine". J. Inherit. Metab. Dis. 30 (5): 735–42. doi:10.1007/s10545-007-0590-2. PMID 17603756. S2CID 22549126.
• Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT (2008). "Transaldolase deficiency in a two-year-old boy with cirrhosis". Mol. Genet. Metab. 94 (2): 255–8. doi:10.1016/j.ymgme.2008.01.011. PMID 18331807.
• Qian Y, Banerjee S, Grossman CE, Amidon W, Nagy G, Barcza M, Niland B, Karp DR, Middleton FA, Banki K, Perl A (2008). "Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing". Biochem. J. 415 (1): 123–34. doi:10.1042/BJ20080722. PMID 18498245.
• Schneider S, Sandalova T, Schneider G, Sprenger GA, Samland AK (2008). "Replacement of a phenylalanine by a tyrosine in the active site confers fructose-6-phosphate aldolase activity to the transaldolase of Escherichia coli and human origin". J. Biol. Chem. 283 (44): 30064–72. doi:10.1074/jbc.M803184200. PMC 2662071. PMID 18687684.
• Basta PV, Bensen JT, Tse CK, Perou CM, Sullivan PF, Olshan AF (2008). "Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck". Cancer Detect. Prev. 32 (3): 200–8. doi:10.1016/j.cdp.2008.08.008. PMC 2614275. PMID 18805652.