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GATM

GATM

Identifikatori

Vanjski ID-jevi

Vrste

Čovjek

Miš


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RefSeq (mRNK)


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RefSeq (bjelančevina)


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Lokacija (UCSC)

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PubMed pretraga

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Pogledaj/uredi – čovjek

Mitohondrijska glicin-amidinotransferaza je enzim koji je kod ljudi kodiran genom GATM.^[1]^[2]

Ovaj gen kodira mitohondrijski enzim koji pripada porodici amidinotransferaza. Taj enzim je uključen u biosintezu kreatina, pri čemu katalizira prenos gvanido grupe iz L-arginina u glicin, što rezultira gvanidoacetatnom kiselinom, neposrednim prekursorom kreatina. Mutacije u ovom genu uzrokuju arginin: nedostatak glicin amidinotransferaze, urođenu grešku sinteze kreatina koju karakteriziraju mentalnu retardaciju, oštećenje jezika i poremećaji u ponašanju.^[2]

Aminokislinska sekvenca

Dužina polipeptidnog lanca je 423 aminokiseline, a molekulska težina 48.455 Da.^[3].

10		20		30		40		50
MLRVRCLRGG		SRGAEAVHYI		GSRLGRTLTG		WVQRTFQSTQ		AATASSRNSC
AADDKATEPL		PKDCPVSSYN		EWDPLEEVIV		GRAENACVPP		FTIEVKANTY
EKYWPFYQKQ		GGHYFPKDHL		KKAVAEIEEM		CNILKTEGVT		VRRPDPIDWS
LKYKTPDFES		TGLYSAMPRD		ILIVVGNEII		EAPMAWRSRF		FEYRAYRSII
KDYFHRGAKW		TTAPKPTMAD		ELYNQDYPIH		SVEDRHKLAA		QGKFVTTEFE
PCFDAADFIR		AGRDIFAQRS		QVTNYLGIEW		MRRHLAPDYR		VHIISFKDPN
PMHIDATFNI		IGPGIVLSNP		DRPCHQIDLF		KKAGWTIITP		PTPIIPDDHP
LWMSSKWLSM		NVLMLDEKRV		MVDANEVPIQ		KMFEKLGITT		IKVNIRNANS
LGGGFHCWTC		DVRRRGTLQS		YLD

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

Reference

^ Humm A, Huber R, Mann K (Mar 1994). "The amino acid sequences of human and pig L-arginine:glycine amidinotransferase". FEBS Lett. 339 (1–2): 101–7. doi:10.1016/0014-5793(94)80394-3. PMID 8313955.
^ ^a ^b "Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)".
^ "UniProt, P50440". Pristupljeno 14. 7. 2021.

Dopunska literatura

Humm A, Fritsche E, Steinbacher S (1997). "Structure and reaction mechanism of L-arginine:glycine amidinotransferase". Biol. Chem. 378 (3–4): 193–7. doi:10.1515/bchm.1997.378.3-4.121. PMID 9165070.
Schulze A (2003). "Creatine deficiency syndromes". Mol. Cell. Biochem. 244 (1–2): 143–50. doi:10.1023/A:1022443503883. PMID 12701824.
Gross MD, Eggen MA, Simon AM, Van Pilsum JF (1987). "The purification and characterization of human kidney L-arginine:glycine amidinotransferase". Arch. Biochem. Biophys. 251 (2): 747–55. doi:10.1016/0003-9861(86)90385-1. PMID 3800397.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Humm A; Fritsche E; Mann K; et al. (1997). "Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue". Biochem. J. 322 (3): 771–6. doi:10.1042/bj3220771. PMC 1218254. PMID 9148748.
Humm A, Fritsche E, Steinbacher S, Huber R (1997). "Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis". EMBO J. 16 (12): 3373–85. doi:10.1093/emboj/16.12.3373. PMC 1169963. PMID 9218780.
Fritsche E, Humm A, Huber R (1997). "Substrate binding and catalysis by L-arginine:glycine amidinotransferase--a mutagenesis and crystallographic study". Eur. J. Biochem. 247 (2): 483–90. doi:10.1111/j.1432-1033.1997.00483.x. PMID 9266688.
Suzuki Y; Yoshirtomo-Nakagawa K; Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Fritsche E, Humm A, Huber R (1999). "The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study". J. Biol. Chem. 274 (5): 3026–32. doi:10.1074/jbc.274.5.3026. PMID 9915841.
Item CB; Stöckler-Ipsiroglu S; Stromberger C; et al. (2001). "Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans". Am. J. Hum. Genet. 69 (5): 1127–33. doi:10.1086/323765. PMC 1274356. PMID 11555793.
Carducci C; Birarelli M; Leuzzi V; et al. (2002). "Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies". Clin. Chem. 48 (10): 1772–8. PMID 12324495.
Battini R; Leuzzi V; Carducci C; et al. (2003). "Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree". Mol. Genet. Metab. 77 (4): 326–31. doi:10.1016/S1096-7192(02)00175-0. PMID 12468279.
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.
Verhoeven NM; Schor DS; Roos B; et al. (2003). "Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency". Clin. Chem. 49 (5): 803–5. doi:10.1373/49.5.803. PMID 12709373.
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.
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.
Alessandrì MG; Celati L; Battini R; et al. (2005). "Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency". Anal. Biochem. 343 (2): 356–8. doi:10.1016/j.ab.2005.05.003. PMID 15978539.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes

p r u PDB galerija
Šablon:PDB Gallery/2628

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