Ii sistem antigena

Ii sistem antigena
Identifikatori
Aliasi	GCNT2
Vanjski ID-jevi	OMIM: 600429 MGI: 1100870 HomoloGene: 41535 GeneCards: GCNT2
Lokacija gena (čovjek)
Hrom.	Hromosom 6 (čovjek)
Kraj	10,629,368 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	41,114,368 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • glycosyltransferase activity; • acetylglucosaminyltransferase activity; • N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity;
Ćelijska komponenta	• integral component of membrane; • Golđijeva membrana; • membrana; • ćelijska komponenta; • Golđijev aparat;
Biološki proces	• negative regulation of cell-substrate adhesion; • maintenance of lens transparency; • positive regulation of heterotypic cell-cell adhesion; • positive regulation of cell migration; • glycosaminoglycan biosynthetic process; • multicellular organism development; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • transforming growth factor beta receptor signaling pathway; • positive regulation of cell population proliferation; • posttranscriptional regulation of gene expression; • positive regulation of epithelial to mesenchymal transition; • positive regulation of protein kinase B signaling; • positive regulation of ERK1 and ERK2 cascade;
	Izvori:Amigo / QuickGO
Ortolozi
	2651
	14538
	ENSG00000111846; ENSG00000285222
	ENSMUSG00000021360
	Q8N0V5
	P97402
	NM_001491; NM_145649; NM_145655; NM_001374747
	NM_008105; NM_023887; NM_133219
NP_663624.1; NP_001482.1; NP_663630.2; NP_001482; NP_663624;
	NP_663630; NP_001361676; NP_001482.1; NP_663630.2; NP_663624.1
	NP_032131; NP_076376; NP_573482
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Nekadašnji, Ii sistem antigena, prema novoj nomenklaturi je preimenovan u GCNT2 (N-acetillaktozaminid beta-1,6-N-acetilglukozaminil-transferaza). To je enzim koji je kod ljudi kodiran iz GCNT2 gena.^[5]^[6]^[7]

Ovaj gen kodira enzim koji je odgovoran za formiranje antigena krvnih grupa Ii sistema prema linijskom, odnosno razgranatom poli-N-acetillaktozaminoglikaanu. Kodirani protein je I-granati enzim beta-1,6-N-acetilglukozaminiltransferaza odgovorna za konverziju fetusnog i u adultni I u eritrocitima tokom razvoja embriona. Mutacije u ovom genu su udružene sa pojavom i antigena i kod odraslih osoba. Alternativno prerađena varijanta transkripta kodira različitu izoformu od opisane.^[7] }} ^[8]^[9]

References

^ ^a ^b ^c ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021360 - 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.
^ Bierhuizen M. F., Mattei M. G., Fukuda M. (1993): Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. Genes Dev., 7 (3): 468–478.
^ Yeh J. C., Ong E., Fukuda M. (1999): Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches. J. Biol. Chem., 274 (5): 3215–3221.
^ ^a ^b {{cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651.
^ Fukuda M., Fukuda M. N., Hakomori S. (1979): Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane. J. Biol. Chem., 254 (10): 3700–3703.
^ Keats B., Ott J., Conneally M. (1989): Report of the committee on linkage and gene order. Cytogenet. Cell Genet., 51 (1–4): 459–502.

Također pogledajte

[refGRCh38Ensembl-1] ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021360 - 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.

[5] Bierhuizen M. F., Mattei M. G., Fukuda M. (1993): Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. Genes Dev., 7 (3): 468–478.

[6] Yeh J. C., Ong E., Fukuda M. (1999): Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches. J. Biol. Chem., 274 (5): 3215–3221.

[entrez-7] {{cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651.

[8] Fukuda M., Fukuda M. N., Hakomori S. (1979): Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane. J. Biol. Chem., 254 (10): 3700–3703.

[9] Keats B., Ott J., Conneally M. (1989): Report of the committee on linkage and gene order. Cytogenet. Cell Genet., 51 (1–4): 459–502.

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