NAGLU
N-acetilglukozaminidaza alfa je protein koji je kod ljudi kodiran genom NAGLU.[5]
Dužina polipeptidnog lanca je 743 aminokiseline, a molekulska težina 82.266 Da.[6]
Aminokiselinska sekvenca
- 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 | ||||
---|---|---|---|---|---|---|---|---|
MEAVAVAAAV | GVLLLAGAGG | AAGDEAREAA | AVRALVARLL | GPGPAADFSV | ||||
SVERALAAKP | GLDTYSLGGG | GAARVRVRGS | TGVAAAAGLH | RYLRDFCGCH | ||||
VAWSGSQLRL | PRPLPAVPGE | LTEATPNRYR | YYQNVCTQSY | SFVWWDWARW | ||||
EREIDWMALN | GINLALAWSG | QEAIWQRVYL | ALGLTQAEIN | EFFTGPAFLA | ||||
WGRMGNLHTW | DGPLPPSWHI | KQLYLQHRVL | DQMRSFGMTP | VLPAFAGHVP | ||||
EAVTRVFPQV | NVTKMGSWGH | FNCSYSCSFL | LAPEDPIFPI | IGSLFLRELI | ||||
KEFGTDHIYG | ADTFNEMQPP | SSEPSYLAAA | TTAVYEAMTA | VDTEAVWLLQ | ||||
GWLFQHQPQF | WGPAQIRAVL | GAVPRGRLLV | LDLFAESQPV | YTRTASFQGQ | ||||
PFIWCMLHNF | GGNHGLFGAL | EAVNGGPEAA | RLFPNSTMVG | TGMAPEGISQ | ||||
NEVVYSLMAE | LGWRKDPVPD | LAAWVTSFAA | RRYGVSHPDA | GAAWRLLLRS | ||||
VYNCSGEACR | GHNRSPLVRR | PSLQMNTSIW | YNRSDVFEAW | RLLLTSAPSL | ||||
ATSPAFRYDL | LDLTRQAVQE | LVSLYYEEAR | SAYLSKELAS | LLRAGGVLAY | ||||
ELLPALDEVL | ASDSRFLLGS | WLEQARAAAV | SEAEADFYEQ | NSRYQLTLWG | ||||
PEGNILDYAN | KQLAGLVANY | YTPRWRLFLE | ALVDSVAQGI | PFQQHQFDKN | ||||
VFQLEQAFVL | SKQRYPSQPR | GDTVDLAKKI | FLKYYPRWVA | GSW |
Funkcija
[uredi | uredi izvor]Ovaj gen kodira enzim koji razgrađuje heparan sulfat hidrolizom krajnjih ostataka N-acetil-D-glukozamina u N-acetil-alfa-D-glukozaminidima.
Klinički značaj
[uredi | uredi izvor]Defekti u ovom genu uzrok su mukopolisaharidoza tipa IIIB (MPS-IIIB), takođe poznat kao Sanfilippov sindrom B. Ovu bolest karakterizira akumulacija lizosoma i izlučivanje heparan-sulfata urinom.[5]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000108784 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001751 - 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.
- ^ a b "Entrez Gene: N-acetylglucosaminidase, alpha".
- ^ "UniProt, P54802". Pristupljeno 25. 6. 2021.
Dopunska literatura
[uredi | uredi izvor]- Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ (juni 1996). "Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)". Human Molecular Genetics. 5 (6): 771–7. doi:10.1093/hmg/5.6.771. PMID 8776591.
- Clark AG, Glanowski S, Nielsen R, Thomas PD, Kejariwal A, Todd MA, Tanenbaum DM, Civello D, Lu F, Murphy B, Ferriera S, Wang G, Zheng X, White TJ, Sninsky JJ, Adams MD, Cargill M (decembar 2003). "Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios". Science. 302 (5652): 1960–3. doi:10.1126/science.1088821. PMID 14671302. S2CID 6682593.
- Yogalingam G, Hopwood JJ (oktobar 2001). "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications". Human Mutation. 18 (4): 264–81. doi:10.1002/humu.1189. PMID 11668611. S2CID 25731955.
- Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF (juni 1996). "The molecular basis of Sanfilippo syndrome type B". Proceedings of the National Academy of Sciences of the United States of America. 93 (12): 6101–5. doi:10.1073/pnas.93.12.6101. PMC 39196. PMID 8650226.
- Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG (februar 2012). "Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome". Movement Disorders. 27 (2): 312–5. doi:10.1002/mds.24029. PMID 22102531. S2CID 4834914.
- Sasaki T, Sukegawa K, Masue M, Fukuda S, Tomatsu S, Orii T (novembar 1991). "Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver". Journal of Biochemistry. 110 (5): 842–6. doi:10.1093/oxfordjournals.jbchem.a123668. PMID 1783617.
- Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL (1980). "Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism". American Journal of Medical Genetics. 7 (2): 131–40. doi:10.1002/ajmg.1320070207. PMID 6781343.
- Schmidtchen A, Greenberg D, Zhao HG, Li HH, Huang Y, Tieu P, Zhao HZ, Cheng S, Zhao Z, Whitley CB, Di Natale P, Neufeld EF (januar 1998). "NAGLU mutations underlying Sanfilippo syndrome type B". American Journal of Human Genetics. 62 (1): 64–9. doi:10.1086/301685. PMC 1376809. PMID 9443878.
- Ayala JM, Goyal S, Liverton NJ, Claremon DA, O'Keefe SJ, Hanlon WA (juni 2000). "Serum-induced monocyte differentiation and monocyte chemotaxis are regulated by the p38 MAP kinase signal transduction pathway". Journal of Leukocyte Biology. 67 (6): 869–75. doi:10.1002/jlb.67.6.869. PMID 10857861. S2CID 28719955.