C1GALT1

Pretraga za
Strukture	Swiss-model
Domene	InterPro

Jezgrena 1 sintaza, glikoprotein-N-acetilgalaktozamin
3-beta-galaktoziltransferaza, 1
Jezgrena 1 sintaza, glikoprotein-N-acetilgalaktozamin ; 3-beta-galaktoziltransferaza, 1
Identifikatori
Simbol	C1GALT1
NCBI gen	56913
HGNC	24337
OMIM	610555
RefSeq	NM_020156
UniProt	Q9NS00
Ostali podaci
EC broj	2.4.1.122
Lokus	Hrom. 7 p21.3{{{lokus_dopunski_podaci}}}
Strukture
Pretraga za
Strukture	Swiss-model
Domene	InterPro

C1GALT1
Identifikatori
Aliasi	C1GALT1
Vanjski ID-jevi	OMIM: 610555 MGI: 2151071 HomoloGene: 10599 GeneCards: C1GALT1
Lokacija gena (čovjek)
Hrom.	Hromosom 7 (čovjek)
Kraj	7,248,616 bp
Lokacija gena (miš)
Hrom.	Hromosom 6 (miš)
Kraj	7,875,687 bp
Ontologija gena
Molekularna funkcija	• glycosyltransferase activity; • aktivnost sa transferazom; • glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje iona metala;
Ćelijska komponenta	• integral component of membrane; • Golđijeva membrana; • membrana;
Biološki proces	• multicellular organism development; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • Ćelijska diferencijacija; • O-glycan processing, core 1; • Angiogeneza; • intestinal epithelial cell development; • Nefrogeneza; • O-glycan processing; • protein O-linked glycosylation;
	Izvori:Amigo / QuickGO
Ortolozi
	56913
	94192
	ENSG00000106392
	ENSMUSG00000042460
	Q9NS00
	Q9JJ06
	NM_020156
	NM_052993
	NP_064541
	NP_443719
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Jezgrena 1 sintaza, glikoprotein-N-acetilgalaktozamin 3-beta-galaktoziltransferaza 1, znana i kao C1GALT1, ie enzim koji je kod ljudi kodiran genom C1GALT1.^[5]^[6]

Aminokiselinska sekvenca

10	20	30	40	50
MASKSWLNFL	TFLCGSAIGF	LLCSQLFSIL	LGEKVDTQPN	VLHNDPHARH
SDDNGQNHLE	GQMNFNADSS	QHKDENTDIA	ENLYQKVRIL	CWVMTGPQNL
EKKAKHVKAT	WAQRCNKVLF	MSSEENKDFP	AVGLKTKEGR	DQLYWKTIKA
FQYVHEHYLE	DADWFLKADD	DTYVILDNLR	WLLSKYDPEE	PIYFGRRFKP
YVKQGYMSGG	AGYVLSKEAL	KRFVDAFKTD	KCTHSSSIED	LALGRCMEIM
NVEAGDSRDT	IGKETFHPFV	PEHHLIKGYL	PRTFWYWNYN	YYPPVEGPGC
CSDLAVSFHY	VDSTTMYELE	YLVYHLRPYG	YLYRYQPTLP	ERILKEISQA
NKNEDTKVKL	GNP

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

Funkcija

Obična jezgarna 1 O-glikanska struktura Gal-beta-1-3GalNAc-R je prekursor mnogih struktura O-glikana proširenog mucinskog tipa na površini životinjskih ćelija i izlučenih glikoproteina. Jezgro 1 se sintetizira prenošenjem Gal iz UDP - Gal u GalNAc-alfa-1-R, pomoću jezgra 1 beta-3-galaktoziltransferaze (C1GALT1).^[6]

C1GALT1 povezan je sa T-Tn sistemom antigena.^[7]

Klinički značaj

Postoje neki dokazi da mutacije u genu C1GALT1 mogu biti povezane sa bolestima bubrega.^[8]

Također pogledajte

Glikoprotein-N-acetilgalaktozamin 3-beta-galaktoziltransferaza

Reference

1 2 3 GRCh38: Ensembl release 89: ENSG00000106392 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042460 - 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.
↑ Amado M, Almeida R, Schwientek T, Clausen H (decembar 1999). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128.
1 2 Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM (januar 2002). "Cloning and expression of human core 1 beta1,3-galactosyltransferase". J. Biol. Chem. 277 (1): 178–86. doi:10.1074/jbc.M109060200. PMID 11677243.
↑ "BGMUT Blood Group Antigen Gene Mutation Database". Pristupljeno 16. 7. 2011.
↑ Alexander WS, Viney EM, Zhang JG, et al. (oktobar 2006). "Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene". Proc. Natl. Acad. Sci. U.S.A. 103 (44): 16442–7. doi:10.1073/pnas.0607872103. PMC 1637601. PMID 17062753.

Vanjski linkovi

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000106392 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042460 - 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.

[pmid10580128-5] Amado M, Almeida R, Schwientek T, Clausen H (decembar 1999). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128.

[pmid11677243-6] 1 2 Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM (januar 2002). "Cloning and expression of human core 1 beta1,3-galactosyltransferase". J. Biol. Chem. 277 (1): 178–86. doi:10.1074/jbc.M109060200. PMID 11677243.

[urldbRBC_-_Blood_Group_Antigen_Gene_Mutation_Database-7] "BGMUT Blood Group Antigen Gene Mutation Database". Pristupljeno 16. 7. 2011.

[pmid17062753-8] Alexander WS, Viney EM, Zhang JG, et al. (oktobar 2006). "Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene". Proc. Natl. Acad. Sci. U.S.A. 103 (44): 16442–7. doi:10.1073/pnas.0607872103. PMC 1637601. PMID 17062753.

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