Ii sistem antigena

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Ii sistem antigena
Identifikatori
AliasiGCNT2
Vanjski ID-jeviOMIM: 600429 MGI: 1100870 HomoloGene: 41535 GeneCards: GCNT2
Lokacija gena (čovjek)
Hromosom 6 (čovjek)
Hrom.Hromosom 6 (čovjek)[1]
Hromosom 6 (čovjek)
Genomska lokacija za Ii sistem antigena
Genomska lokacija za Ii sistem antigena
Bend6p24.3-p24.2Početak10,492,223 bp[1]
Kraj10,629,368 bp[1]
Lokacija gena (miš)
Hromosom 13 (miš)
Hrom.Hromosom 13 (miš)[2]
Hromosom 13 (miš)
Genomska lokacija za Ii sistem antigena
Genomska lokacija za Ii sistem antigena
Bend13 A3.3|13 20.12 cMPočetak40,859,754 bp[2]
Kraj40,960,892 bp[2]
Obrazac RNK ekspresije
PBB GE GCNT2 gnf1h10485 at fs.png

PBB GE GCNT2 211020 at fs.png
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija transferase activity
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
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001491
NM_145649
NM_145655
NM_001374747

NM_008105
NM_023887
NM_133219

RefSeq (bjelančevina)
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

Lokacija (UCSC)Chr 6: 10.49 – 10.63 MbChr 13: 40.86 – 40.96 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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[uredi | uredi izvor]

  1. ^ a b c ENSG00000285222 GRCh38: Ensembl release 89: ENSG00000111846, ENSG00000285222 - Ensembl, maj 2017
  2. ^ a b c 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.
  7. ^ 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.
  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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