GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

Genes (1582) Glycans (5831) Glycoproteins (18496) Lectins (298) Pathways (2090)

Displaying entries **426 - 450** of **2090** in total

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Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol	GlyTouCan ID
Defective GGT1 in aflatoxin detoxification causes GLUTH	Glutathione hydrolase 1 proenzyme	P19440	GGT GGT1
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function	26S proteasome complex subunit SEM1 BRCA1-associated RING domain protein 1 Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN Breast cancer type 1 susceptibility protein Breast cancer type 2 susceptibility protein DNA endonuclease RBBP8 DNA repair protein RAD50 DNA repair protein RAD51 homolog 1 DNA repair protein RAD51 homolog 2 DNA repair protein RAD51 homolog 3 DNA repair protein RAD51 homolog 4 DNA repair protein XRCC2 DNA replication ATP-dependent helicase/nuclease DNA2 DNA topoisomerase 3-alpha Double-strand break repair protein MRE11 Exonuclease 1 Fanconi anemia group J protein Histone acetyltransferase KAT5 Nibrin Partner and localizer of BRCA2 RAD51-associated protein 1 RecQ-like DNA helicase BLM RecQ-mediated genome instability protein 1 RecQ-mediated genome instability protein 2 Serine-protein kinase ATM	O15315 O43502 O43543 O60934 O75771 P38398 P49959 P51530 P51587 P54132 P60896 Q06609 Q13315 Q13472 Q14191 Q86YC2 Q92878 Q92993 Q96B01 Q96E14 Q99708 Q99728 Q9BX63 Q9H9A7 Q9UQ84	ATM BACH1 BARD1 BLM BRCA1 BRCA2 BRIP1 C16orf75 C7orf76 C9orf76 CTIP DNA2 DNA2L DSS1 EXO1 EXOI FACD FANCD1 FANCJ FANCN HEX1 HNGS1 HTATIP KAT5 KIAA0083 MRE11 MRE11A NBN NBS NBS1 P95 PALB2 PIR51 RAD50 RAD51 RAD51A RAD51AP1 RAD51B RAD51C RAD51D RAD51L1 RAD51L2 RAD51L3 RBBP8 REC2 RECA RECQ2 RECQ3 RECQL2 RECQL3 RMI1 RMI2 RNF53 SEM1 SHFDG1 SHFM1 TIP60 TOP3 TOP3A WRN XRCC2
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function	26S proteasome complex subunit SEM1 BRCA1-associated RING domain protein 1 Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN Breast cancer type 1 susceptibility protein Breast cancer type 2 susceptibility protein DNA endonuclease RBBP8 DNA repair protein RAD50 DNA repair protein RAD51 homolog 1 DNA repair protein RAD51 homolog 2 DNA repair protein RAD51 homolog 3 DNA repair protein RAD51 homolog 4 DNA repair protein XRCC2 DNA replication ATP-dependent helicase/nuclease DNA2 DNA topoisomerase 3-alpha Double-strand break repair protein MRE11 Exonuclease 1 Fanconi anemia group J protein Histone acetyltransferase KAT5 Nibrin Partner and localizer of BRCA2 RAD51-associated protein 1 RecQ-like DNA helicase BLM RecQ-mediated genome instability protein 1 RecQ-mediated genome instability protein 2 Serine-protein kinase ATM	O15315 O43502 O43543 O60934 O75771 P38398 P49959 P51530 P51587 P54132 P60896 Q06609 Q13315 Q13472 Q14191 Q86YC2 Q92878 Q92993 Q96B01 Q96E14 Q99708 Q99728 Q9BX63 Q9H9A7 Q9UQ84	ATM BACH1 BARD1 BLM BRCA1 BRCA2 BRIP1 C16orf75 C7orf76 C9orf76 CTIP DNA2 DNA2L DSS1 EXO1 EXOI FACD FANCD1 FANCJ FANCN HEX1 HNGS1 HTATIP KAT5 KIAA0083 MRE11 MRE11A NBN NBS NBS1 P95 PALB2 PIR51 RAD50 RAD51 RAD51A RAD51AP1 RAD51B RAD51C RAD51D RAD51L1 RAD51L2 RAD51L3 RBBP8 REC2 RECA RECQ2 RECQ3 RECQL2 RECQL3 RMI1 RMI2 RNF53 SEM1 SHFDG1 SHFM1 TIP60 TOP3 TOP3A WRN XRCC2
Defective HEXA causes GM2G1	Beta-hexosaminidase subunit alpha	P06865	HEXA	G20239CJ
Defective HEXB causes GM2G2	Beta-hexosaminidase subunit beta	P07686	HEXB	G20239CJ
Defective HK1 causes hexokinase deficiency (HK deficiency)	Hexokinase-1	P19367	HK1	G58161NS
Defective HLCS causes multiple carboxylase deficiency	Acetyl-CoA carboxylase 1 Biotin--protein ligase Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial Propionyl-CoA carboxylase alpha chain, mitochondrial Propionyl-CoA carboxylase beta chain, mitochondrial Pyruvate carboxylase, mitochondrial	P05165 P05166 P11498 P50747 Q13085 Q96RQ3 Q9HCC0	ACAC ACACA ACC1 ACCA HLCS MCCA MCCB MCCC1 MCCC2 PC PCCA PCCB
Defective HPRT1 disrupts guanine and hypoxanthine salvage	Hypoxanthine-guanine phosphoribosyltransferase	P00492	HPRT HPRT1
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations	Death domain-associated protein 6 Transcriptional regulator ATRX	P46100 Q9UER7	ATRX BING2 DAP6 DAXX RAD54L XH2
Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations	Death domain-associated protein 6 Transcriptional regulator ATRX	P46100 Q9UER7	ATRX BING2 DAP6 DAXX RAD54L XH2
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function	Complement component 1 Q subcomponent-binding protein, mitochondrial Tumor suppressor ARF	Q07021 Q8N726	C1QBP CDKN2 CDKN2A GC1QBP HABP1 MLM SF2P32
Defective LARGE causes MDDGA6 and MDDGB6	Beta-1,4-glucuronyltransferase 1 Xylosyl- and glucuronyltransferase LARGE1	O43505 O95461	B3GNT1 B3GNT6 B4GAT1 KIAA0609 LARGE LARGE1
Defective LFNG causes SCDO3	Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe Neurogenic locus notch homolog protein 1 Neurogenic locus notch homolog protein 2 Neurogenic locus notch homolog protein 3 Neurogenic locus notch homolog protein 4	P46531 Q04721 Q8NES3 Q99466 Q9UM47	INT3 LFNG NOTCH1 NOTCH2 NOTCH3 NOTCH4 TAN1
Defective MAN1B1 causes MRT15	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	Q9UKM7	MAN1B1
Defective MAOA causes BRUNS	Amine oxidase [flavin-containing] A	P21397	MAOA
Defective MGAT2 causes CDG-2a	Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	Q10469	MGAT2
Defective MMAA causes MMA, cblA type	Methylmalonic aciduria type A protein, mitochondrial Methylmalonyl-CoA mutase, mitochondrial	P22033 Q8IVH4	MMAA MMUT MUT
Defective MMAB causes MMA, cblB type	Corrinoid adenosyltransferase MMAB	Q96EY8	MMAB
Defective MOGS causes CDG-2b	Mannosyl-oligosaccharide glucosidase	Q13724	GCS1 MOGS
Defective MPDU1 causes CDG-1f	Mannose-P-dolichol utilization defect 1 protein	O75352	MPDU1
Defective MPI causes CDG-1b	Mannose-6-phosphate isomerase	P34949	MPI PMI1
Defective MTR causes HMAG	Methionine synthase reductase Methionine synthase	Q99707 Q9UBK8	MTR MTRR
Defective MTRR causes HMAE	Methionine synthase reductase Methionine synthase	Q99707 Q9UBK8	MTR MTRR
Defective MUT causes MMAM	Methylmalonic aciduria type A protein, mitochondrial Methylmalonyl-CoA mutase, mitochondrial	P22033 Q8IVH4	MMAA MMUT MUT
Defective Mismatch Repair Associated With MLH1	DNA mismatch repair protein Mlh1 Mismatch repair endonuclease PMS2	P40692 P54278	COCA2 MLH1 PMS2 PMSL2

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