B3GNT1

B3GNT1
Identifikatori
Aliasi	B4GAT1
Vanjski ID-jevi	OMIM: 605517 MGI: 1919680 HomoloGene: 38239 GeneCards: B4GAT1
Lokacija gena (čovjek)
Hrom.	Hromosom 11 (čovjek)
Kraj	66,347,629 bp
Lokacija gena (miš)
Hrom.	Hromosom 19 (miš)
Kraj	5,091,159 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • glucuronosyltransferase activity; • vezivanje iona metala; • glycosyltransferase activity; • N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• integral component of membrane; • integral component of Golgi membrane; • Golđijeva membrana; • Golđijev aparat; • Egzosom; • membrana;
Biološki proces	• GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • poly-N-acetyllactosamine biosynthetic process; • keratan sulfate biosynthetic process; • protein O-linked mannosylation; • axon guidance; • protein O-linked glycosylation;
	Izvori:Amigo / QuickGO
Ortolozi
	11041
	108902
	ENSG00000174684
	ENSMUSG00000047379
	O43505
	Q8BWP8
	NM_006876
	NM_175383
	NP_006867
	NP_780592
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

N-acetilaktosaminid beta-1,3-N-acetilglukozaminiltransferaza je enzim koji je kod ljudi kodiran genom B3GNT1.^[5]^[6]

β-1,4-glukuroniltransferaza[uredi | uredi izvor]

Gen B3GNT1 kodira β-1,4-glukuroniltransferazu, označenu kao B4GAT1, koja prenosi glukuronsku kiselinu prema α- i β-anomerima ksiloze.^[7] B4GAT1 je primarni enzim za LARGE, glikoziltransferazu dvostruke aktivnosti koja je sposobna produžiti produkte B4GAT1. Stoga je uključen u započinjanje velikog ovisnog ponavljajućeg disaharida koji je neophodan za vezivanje proteina vanćelijskog matriksa za O-manosilirani α-distroglikan, koji nedostaje u sekundarnim distroglikanopatijama.

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 415 aminokiselina, a molekulska težina 47.119 Da.^[8].

10	20	30	40	50
MQMSYAIRCA	FYQLLLAALM	LVAMLQLLYL	SLLSGLHGQE	EQDQYFEFFP
PSPRSVDQVK	AQLRTALASG	GVLDASGDYR	VYRGLLKTTM	DPNDVILATH
ASVDNLLHLS	GLLERWEGPL	SVSVFAATKE	EAQLATVLAY	ALSSHCPDMR
ARVAMHLVCP	SRYEAAVPDP	REPGEFALLR	SCQEVFDKLA	RVAQPGINYA
LGTNVSYPNN	LLRNLAREGA	NYALVIDVDM	VPSEGLWRGL	REMLDQSNQW
GGTALVVPAF	EIRRARRMPM	NKNELVQLYQ	VGEVRPFYYG	LCTPCQAPTN
YSRWVNLPEE	SLLRPAYVVP	WQDPWEPFYV	AGGKVPTFDE	RFRQYGFNRI
SQACELHVAG	FDFEVLNEGF	LVHKGFKEAL	KFHPQKEAEN	QHNKILYRQF
KQELKAKYPN	SPRRC

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

Pogrešna identifikacija[uredi | uredi izvor]

Za gen B3GNT1 prvi put je objavljeno da kodira člana porodice beta-1,3-N-acetilglukozaminiltransferaze i smatralo se da je odgovoran za sintezu poli-N-acetilaktosamina,^[5] determinante za antigen krvne grupe i. Tako je bio poznat i kao iGNT.

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000174684 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047379 - 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 Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M (decembar 1997). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14294–9. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.
^ "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".
^ Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L (oktobar 2014). "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan". eLife. 3. doi:10.7554/eLife.03943. PMC 4227051. PMID 25279697.
^ "UniProt, O43505". Pristupljeno 16. 8. 2021.

Dopunska literatura[uredi | uredi izvor]

Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 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.
Maruyama K, Sugano S (januar 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.

Vanjski linkovi[uredi | uredi izvor]

Lokacija ljudskog genoma B3GNT6 i stranica sa detaljima o genu B3GNT6 u UCSC Genome Browseru.
Lokacija ljudskog genoma B4GAT1 i stranica sa detaljima o genu B4GAT1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000174684 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000047379 - 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.

[pmid9405606-5] Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M (decembar 1997). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14294–9. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.

[entrez-6] "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".

[7] Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L (oktobar 2014). "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan". eLife. 3. doi:10.7554/eLife.03943. PMC 4227051. PMID 25279697.

[UniProt-8] "UniProt, O43505". Pristupljeno 16. 8. 2021.

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