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8706 B3GALNT1

8706

B3GALNT1

beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)

protein-coding

Homo sapiens

基因描述

Type Description
Definition beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)

研究结论

Date Results Publications
2019-12-28 10:56:00 Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus. 29873420
2015-10-24 11:31:00 b1,3GalNAc-T1 uses different acceptors to form immunologically distinct glycosphingolipids. 26055721
2015-08-22 10:48:00 TINAGL1 and B3GALNT1 are possible candidates for drug compounds that inhibit their gene expression 25521548
2015-08-15 10:03:00 The Pk phenotype is resulted from 433 C>T mutation in the B3GALNT1 gene. 26037356
2014-12-20 13:18:00 The N-acetylgalactose aminotransferase gene 539G>C mutation resulted in A2B phenotype generation, and individual serum contained the anti-A1 antibody. 24782133

名称对应

Type IDs
Synonymous B3GALT3, GLCT3, GLOB, Gb4Cer, P, P1, beta3Gal-T3, galT3
Gene
UniProtKB-ID: B3GL1_HUMAN, Q8TDY1_HUMAN, B3KTQ4_HUMAN, Q7L9G8_HUMAN, Q49AT3_HUMAN
UniprotKB: O75752, Q8TDY1, B3KTQ4, Q7L9G8, Q49AT3
UniParc: UPI0000372E76, UPI000015F487, UPI000006D132, UPI000056F13B, UPI000000DC24
EMBL: CH471052, CR457170, AB050855, BC047618, DQ158095, AF494106, AB060691, AF154848, AK022491, AF494105, BC028571, AY359049, Y15062, AK095917, AB050856, AF132731
Ensembl: ENSG00000169255
KO: hsa:8706
Nucleutide sequences
EMBL-CDS: AAM96012.1, EAW78621.1, CAG33451.1, CAA75346.1, AAF66442.1, AAH47618.1, AAQ89408.1, AAF72106.1, BAB17691.1, EAW78623.1, AAM96011.1, BAB17690.1, EAW78624.1, EAW78625.1, AAZ67917.1, BAB91079.1, BAG53166.1, BAB14055.1, AAH28571.1
Gene_ORFName: UNQ531/PRO1074
Ensembl_TRS: ENST00000651380, ENST00000652032, ENST00000473285, ENST00000651972, ENST00000392779, ENST00000651292, ENST00000651509, ENST00000652596, ENST00000651305, ENST00000651916, ENST00000488170, ENST00000650695, ENST00000652143, ENST00000320474, ENST00000651117, ENST00000392781, ENST00000651178, ENST00000652730, ENST00000651460, ENST00000651791, ENST00000652377, ENST00000652059, ENST00000652669, ENST00000651379, ENST00000651254, ENST00000650733, ENST00000651689, ENST00000651953, ENST00000651686, ENST00000652111, ENST00000651147
Protein sequencees
Ensembl_PRO: ENSP00000498553, ENSP00000498478, ENSP00000499010, ENSP00000498481, ENSP00000498902, ENSP00000498633, ENSP00000498901, ENSP00000498542, ENSP00000498907, ENSP00000498346, ENSP00000498854, ENSP00000498810, ENSP00000498660, ENSP00000498689, ENSP00000498978, ENSP00000418226, ENSP00000420163, ENSP00000499003, ENSP00000498982, ENSP00000499180, ENSP00000498427, ENSP00000498696, ENSP00000376532, ENSP00000499186, ENSP00000498369, ENSP00000376530, ENSP00000498487, ENSP00000499072, ENSP00000498743, ENSP00000323479, ENSP00000498655
RefSeq: NP_001336060.1, NP_001336076.1, NP_001336088.1, NP_001336065.1, NP_001336089.1, NP_001336079.1, NP_001336077.1, NP_003772.1, NP_001336090.1, NP_001336069.1, NP_001336067.1, NP_001336073.1, NP_001336082.1, NP_001336072.1, XP_005247916.1, NP_001336062.1, XP_016862902.1, NP_001336059.1, NP_001336064.1, NP_001336084.1, NP_001336075.1, NP_001336061.1, NP_001336074.1, NP_001336071.1, NP_001336085.1, NP_001336078.1, NP_001336091.1, NP_001033717.1, NP_001336068.1, NP_149357.1, NP_001336087.1, NP_001336080.1, NP_149358.1, NP_001336083.1, NP_001336063.1, NP_001336066.1, NP_001336086.1, NP_001336092.1, NP_001336070.1, NP_001336081.1, XP_024309576.1, NP_149359.1
Others
UniRef100: UniRef100_Q7L9G8, UniRef100_B3KTQ4, UniRef100_Q8TDY1, UniRef100_O75752, UniRef100_Q49AT3
UniRef90: UniRef90_Q8TDY1, UniRef90_Q920V1, UniRef90_O75752
UniRef50: UniRef50_Q920V1, UniRef50_O75752
UniGene: Hs.418062
CCDS: CCDS3193.1

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