Property Summary

NCBI Gene PubMed Count 48
PubMed Score 479.46
PubTator Score 156.15

Knowledge Summary

Patent

No data available

Expression

Synonym

Gene

AGL

PANTHER Protein Class (2)

  Ortholog (13)

Gene RIF (24)

PMID Text
26975021 AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth.
26252094 Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family.
25827695 Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event.
25602008 A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect.
25451950 AGL haplotype analyses suggested that c.1019delA and c.958+1G>A are founder mutations in Turkish patients, while p.R864X is a recurrent mutation.
24257475 study identified 10 different mutations in 8 Korean Glycogen storage disease type III patients; 5 mutations are novel and include 1 nonsense (c.1461G>A, p.W487X), 3 splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and 1 missense mutation (c.2591G>C, p.R864P)
23882694 We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B.
23649758 Characterization of a novel homozygous single point mutation at the polypyrimidine tract of intron 21 of the AGL gene in two consanguineous siblings with glycogen storage disease type III.
22035446 A founder effect discovered amongst Tunisian patients with glycogen storage disease type III and a c.3216_3217delGA mutation in the AGL gene.
20800603 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNREKFRSLDWENP      1 - 70
TEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPF     71 - 140
DEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNV    141 - 210
ICITDVVYNHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHH    211 - 280
MNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDM    281 - 350
NIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVT    351 - 420
RKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDS    421 - 490
VKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGS    491 - 560
EDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNEC    561 - 630
PIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIA    631 - 700
ARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPG    701 - 770
KIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENL    771 - 840
SPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYR    841 - 910
CESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGT    911 - 980
IAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQLCGV    981 - 1050
GKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEA   1051 - 1120
RNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAP   1121 - 1190
LPAGTLDQPLFEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWM   1191 - 1260
DKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRK   1261 - 1330
IQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTTEKAWKA   1331 - 1400
LEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMG   1401 - 1470
PETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL           1471 - 1532
//

Text Mined References (50)

PMID Year Title
26975021 2016 Metabolic phenotype of bladder cancer.
26252094 2015 [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
25827695 A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
25602008 2015 A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
25451950 2015 Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
24837458 2014 The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24257475 2014 A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
23882694 2013 Anti-retinal antibodies in patients with macular telangiectasia type 2.
23649758 2013 Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
More...