ABO (genea)

ABO (genea)
Egitura erabilgarria 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  [1]
Genearen kokapena (gizakia) Kromosoma: 9 (gizakia)[2] Banda 9q34.2 Hasiera 133.233.278 bp[2] Amaiera 133.276.024 bp[2]
Genearen kokapena (sagua) Kromosoma: 2 (sagua)[3] Banda 2|2 A3 Hasiera 26.732.515 bp[3] Amaiera 26.754.991 bp[3]
RNA adierazpen eredua Bgee gizakia sagua (ortholog) Adierazpen ohikoena 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  Adierazpen ohikoena Guruin submaxilar Malko guruin morula  Parotida guruin spermatocyte  Hestegorri blastocyst  enbrioi Semen-besikula transitional epithelium of urinary bladder  Erreferentziazko adierazpen datu gehiago BioGPS 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 Espeziea Gizakia Sagua Entrez 28 80908 Ensembl ENSG00000175164 ENSG00000281879 ENSMUSG00000015787 UniProt P16442 P38649 RefSeq (RNAm) NM_020469 NM_030718 NM_001290444 RefSeq (proteina) NP_065202 NP_001277373 NP_109643 Kokapena (UCSC) Chr 9: 133.23 – 133.28 Mb Chr 2: 26.73 – 26.75 Mb PubMed bilaketa [4] [5]
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].

1. ↑ Genetikoki lotutako gaixotasunak ABO (genea)ikusi/editatu erreferentziak Wikidatan. .
2. ↑ ^{a b c} ENSG00000281879 GRCh38: Ensembl release 89: ENSG00000175164, ENSG00000281879 - Ensembl, May 2017
3. ↑ ^{a b c} 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).