Property Summary

NCBI Gene PubMed Count 22
PubMed Score 10.36
PubTator Score 5.75

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9NP73 B1AKD6 B1AKM1 B2R5L5 B7Z6J0 B7Z804 B7Z847 B7Z9A8 B7ZAJ1 B7ZB57 Q17RC3 Q5JXY9 Q9H5U8
Symbols CDG1S
EIEE36
MDS031
TDRD13
CXorf45
GLT28D1
YGL047W

Gene

Gene RIF (6)

PMID Text
24501762 We report on a novel missense variant in the ALG13 gene in a nonconsanguineous Arab family that co-segregates with nonsyndromic intellectual disability.
16100110 ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase
8218172 Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase
2649653 Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase
2341393 Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase
2283726 Addition of peripheral sugar residues such as galactose, N-acetylglucosamine, and sialic acid to HIV-1 gp120 is processed by specific glycosyltransferase

AA Sequence

MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDVYRYKDSLKED      1 - 70
IQKADLVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEGHLFYCTCRVLTCPGQAKSIA     71 - 140
SAPGKCQDSAALTSTAFSGLDFGLLSGYLHKQALVTATHPTCTLLFPSCHAFFPLPLTPTLYKMHKGWKN    141 - 210
YCSQKSLNEASMDEYLGSLGLFRKLTAKDASCLFRAISEQLFCSQVHHLEIRKACVSYMRENQQTFESYV    211 - 280
EGSFEKYLERLGDPKESAGQLEIRALSLIYNRDFILYRFPGKPPTYVTDNGYEDKILLCYSSSGHYDSVY    281 - 350
SKQFQSSAAVCQAVLYEILYKDVFVVDEEELKTAIKLFRSGSKKNRNNAVTGSEDAHTDYKSSNQNRMEE    351 - 420
WGACYNAENIPEGYNKGTEETKSPENPSKMPFPYKVLKALDPEIYRNVEFDVWLDSRKELQKSDYMEYAG    421 - 490
RQYYLGDKCQVCLESEGRYYNAHIQEVGNENNSVTVFIEELAEKHVVPLANLKPVTQVMSVPAWNAMPSR    491 - 560
KGRGYQKMPGGYVPEIVISEMDIKQQKKMFKKIRGKEVYMTMAYGKGDPLLPPRLQHSMHYGHDPPMHYS    561 - 630
QTAGNVMSNEHFHPQHPSPRQGRGYGMPRNSSRFINRHNMPGPKVDFYPGPGKRCCQSYDNFSYRSRSFR    631 - 700
RSHRQMSCVNKESQYGFTPGNGQMPRGLEETITFYEVEEGDETAYPTLPNHGGPSTMVPATSGYCVGRRG    701 - 770
HSSGKQTLNLEEGNGQSENGRYHEEYLYRAEPDYETSGVYSTTASTANLSLQDRKSCSMSPQDTVTSYNY    771 - 840
PQKMMGNIAAVAASCANNVPAPVLSNGAAANQAISTTSVSSQNAIQPLFVSPPTHGRPVIASPSYPCHSA    841 - 910
IPHAGASLPPPPPPPPPPPPPPPPPPPPPPPPPPPALDVGETSNLQPPPPLPPPPYSCDPSGSDLPQDTK    911 - 980
VLQYYFNLGLQCYYHSYWHSMVYVPQMQQQLHVENYPVYTEPPLVDQTVPQCYSEVRREDGIQAEASAND    981 - 1050
TFPNADSSSVPHGAVYYPVMSDPYGQPPLPGFDSCLPVVPDYSCVPPWHPVGTAYGGSSQIHGAINPGPI   1051 - 1120
GCIAPSPPASHYVPQGM                                                        1121 - 1137
//

Text Mined References (23)

PMID Year Title
26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
25416956 2014 A proteome-scale map of the human interactome network.
24781210 2014 The genetic landscape of infantile spasms.
24501762 2014 X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
23934111 2013 De novo mutations in epileptic encephalopathies.
23827681 2013 OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis.
23686279 2013 Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22492991 2012 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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