ABO (genea)

ABO (genea)
Egitura erabilgarri
PDB	Ortologoaren bilaketa: PDBe RCSB
PDB ID kodeen zerrenda
	1LZ0, 1LZ7, 1LZI, 1LZJ, 1R7T, 1R7U, 1R7V, 1R7X, 1R7Y, 1R80, 1R81, 1R82, 1WSZ, 1WT0, 1WT1, 1WT2, 1WT3, 1XZ6, 1ZHJ, 1ZI1, 1ZI3, 1ZI4, 1ZI5, 1ZIZ, 1ZJ0, 1ZJ1, 1ZJ2, 1ZJ3, 1ZJO, 1ZJP, 2A8U, 2A8W, 2I7B, 2O1F, 2O1G, 2O1H, 2PGV, 2RIT, 2RIX, 2RIY, 2RIZ, 2RJ0, 2RJ1, 2RJ4, 2RJ5, 2RJ6, 2RJ7, 2RJ8, 2RJ9, 2Y7A, 3I0C, 3I0D, 3I0E, 3I0F, 3I0G, 3I0H, 3I0I, 3I0J, 3I0K, 3I0L, 3IOH, 3IOI, 3IOJ, 3SX3, 3SX5, 3SX7, 3SX8, 3SXA, 3SXB, 3SXC, 3SXD, 3SXE, 3SXG, 3U0X, 3U0Y, 3V0L, 3V0M, 3V0N, 3V0O, 3V0P, 3V0Q, 3ZGF, 4C2S, 4KC1, 4KC2, 4KC4, 3ZGG, 4FQW, 4FRA, 4FRB, 4FRD, 4FRE, 4FRH, 4FRL, 4FRO, 4FRP, 4FRQ, 4GBP, 4KXO, 4Y62, 4Y63, 4Y64, 5BXC, 5C1G, 5C1H, 5C1L, 5C36, 5C38, 5C3A, 5C3B, 5C3D, 5C47, 5C48, 5C49, 5C4B, 5C4C, 5C4D, 5C4E, 5C4F, 5C8R, 5CMI, 2PGY
Identifikatzaileak
Aliasak	ABO (HUGO), A3GALNT, A3GALT1, GTB, NAGAT, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Kanpoko IDak	OMIM: 110300 MGI: 2135738 HomoloGene: 69306 GeneCards: ABO OMA: ABO - orthologs
EC Zenbakia	2.4.1.37 2.4.1.40, 2.4.1.37
Genetikoki lotutako gaixotasunak
	malaria, Basedow-Gravesen eritasun, gizeneri, ultzera duodenal , arteria koronarioetako gaixotasun, pankreako minbizi, Graves' disease
Genearen kokapena (Giza)
Kr.	Kromosoma 9 (gizakia)
Amaiera	133.276.024 bp
Genearen kokapena (Sagua)
Kr.	Kromosoma 2 (sagua)
Amaiera	26.754.991 bp
RNA adierazpena eredua
	Gehien adierazita
	tendon of biceps brachii ; ; buccal mucosa cell ; ; right lobe of thyroid gland ; ; right uterine tube ; ; left lobe of thyroid gland ; ; left ovary ; ; ondeste; ; right adrenal cortex ; ; left adrenal gland ; ; left adrenal cortex ;
	Gehien adierazita
	Guruin submaxilar; ; Malko guruin; ; morula ; ; Parotida guruin; ; spermatocyte ; ; Hestegorri; ; blastocyst ; ; enbrioi; ; Semen-besikula; ; transitional epithelium of urinary bladder ;
	Erreferentziazko adierazpen datu gehiago
	; ;
	Erreferentziazko adierazpen datu gehiago
Gene ontologia
Funtzio molekularra	transferase activity ; hexosyltransferase activity ; metal ion binding ; fucosylgalactoside 3-alpha-galactosyltransferase activity ; glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity ; glycosyltransferase activity ; nucleotide binding ; antigen binding ; manganese ion binding ;
Zelularen osagaia	zelula-mintzaren osagai integrala ; zelulaz kanpoko eremu ; Golgi cisterna membrane ; mintza ; Golgi aparatu ; Besikula ;
Prozesu biologikoa	protein glycosylation ; glycolipid biosynthetic process ; lipid glycosylation ; karbohidratoen metabolismo ;
	Iturburuak:Amigo / QuickGO
Ortologoak
	28
	80908
	ENSG00000175164; ENSG00000281879
	ENSMUSG00000015787
	P16442
	P38649
	NM_020469
	NM_030718; NM_001290444
	NP_065202
	NP_001277373; NP_109643
	Wikidata
Ikusi/Editatu giza genea	Ikusi/Editatu saguaren genea

Histo-odol taldeko ABO sistema transferasa glukosiltransferasa jarduera egiten duen entzima bat da, ABO geneak kodetzen duena gizakiengan^[6]^[7]. Ehun eta zelula mota askotan agertzen da gorputz osoan zehar^[8]. ABO geneak odol taldeak aldatzen ditu norbanakoetan, zelula mintzeko glukoproteinen oligosakaridoak eraldatuz. Norbanakoek duten proteina sekuentzian dauden aldaketek odol talde hori zehazten dute. ABO geneak arteria koronarioetako gaixotasunekin lotu diren 27 nukleotido bakarreko polimorfismoetako bat darama^[9].

Erreferentziak

↑ Genetikoki lotutako gaixotasunak ABO (genea)ikusi/editatu erreferentziak wikidatuetan. .
↑ ^a ^b ^c ENSG00000281879 GRCh38: Ensembl release 89: ENSG00000175164, ENSG00000281879 - Ensembl, May 2017
↑ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000015787 – Ensembl, May 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.
↑ (Ingelesez) Ferguson-Smith, M. A.; Aitken, D. A.; Turleau, Catherine; de Grouchy, J.. (1976-01-01). «Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34» Human Genetics 34 (1): 35–43. doi:10.1007/BF00284432. ISSN 1432-1203. (Noiz kontsultatua: 2021-06-03).
↑ «ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Homo sapiens (human) - Gene - NCBI»] www.ncbi.nlm.nih.gov (Noiz kontsultatua: 2021-06-03).
↑ «BioGPS - your Gene Portal System» biogps.org (Noiz kontsultatua: 2021-06-03).
↑ Mega, Jessica L; Stitziel, Nathan O; Smith, J Gustav; Chasman, Daniel I; Caulfield, Mark J; Devlin, James J; Nordio, Francesco; Hyde, Craig L et al.. (2015-06). «Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials» The Lancet 385 (9984): 2264–2271. doi:10.1016/s0140-6736(14)61730-x. ISSN 0140-6736. PMID 25748612. PMC PMC4608367. (Noiz kontsultatua: 2021-06-03).

Kanpo estekak

Datuak: Q14839826
Multimedia: ABO (gene) / Q14839826

[1] Genetikoki lotutako gaixotasunak ABO (genea)ikusi/editatu erreferentziak wikidatuetan. .

[refGRCh38Ensembl-2] ENSG00000281879 GRCh38: Ensembl release 89: ENSG00000175164, ENSG00000281879 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000015787 – Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[6] (Ingelesez) Ferguson-Smith, M. A.; Aitken, D. A.; Turleau, Catherine; de Grouchy, J.. (1976-01-01). «Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34» Human Genetics 34 (1): 35–43. doi:10.1007/BF00284432. ISSN 1432-1203. (Noiz kontsultatua: 2021-06-03).

[7] «ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Homo sapiens (human) - Gene - NCBI»] www.ncbi.nlm.nih.gov (Noiz kontsultatua: 2021-06-03).

[8] «BioGPS - your Gene Portal System» biogps.org (Noiz kontsultatua: 2021-06-03).

[9] Mega, Jessica L; Stitziel, Nathan O; Smith, J Gustav; Chasman, Daniel I; Caulfield, Mark J; Devlin, James J; Nordio, Francesco; Hyde, Craig L et al.. (2015-06). «Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials» The Lancet 385 (9984): 2264–2271. doi:10.1016/s0140-6736(14)61730-x. ISSN 0140-6736. PMID 25748612. PMC PMC4608367. (Noiz kontsultatua: 2021-06-03).

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