GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **1651 - 1675** of **2090** in total

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Pathway Name ▼	Protein Name	UniProt ID	Gene Symbol	GlyTouCan ID
Defective MAOA causes BRUNS	Amine oxidase [flavin-containing] A	P21397	MAOA
Defective MAN1B1 causes MRT15	Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase	Q9UKM7	MAN1B1
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 LARGE causes MDDGA6 and MDDGB6	Beta-1,4-glucuronyltransferase 1 Xylosyl- and glucuronyltransferase LARGE1	O43505 O95461	B3GNT1 B3GNT6 B4GAT1 KIAA0609 LARGE LARGE1
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 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 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 HPRT1 disrupts guanine and hypoxanthine salvage	Hypoxanthine-guanine phosphoribosyltransferase	P00492	HPRT HPRT1
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 HK1 causes hexokinase deficiency (HK deficiency)	Hexokinase-1	P19367	HK1	G58161NS
Defective HEXB causes GM2G2	Beta-hexosaminidase subunit beta	P07686	HEXB	G20239CJ
Defective HEXA causes GM2G1	Beta-hexosaminidase subunit alpha	P06865	HEXA	G20239CJ
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 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 GGT1 in aflatoxin detoxification causes GLUTH	Glutathione hydrolase 1 proenzyme	P19440	GGT GGT1
Defective GGT1 causes GLUTH	Glutathione hydrolase 1 proenzyme	P19440	GGT GGT1
Defective GFPT1 causes CMSTA1	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1	Q06210	GFAT GFPT GFPT1
Defective GCLC causes HAGGSD	Glutamate--cysteine ligase catalytic subunit Glutamate--cysteine ligase regulatory subunit	P48506 P48507	GCLC GCLM GLCL GLCLC GLCLR
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)	Hexokinase-4	P35557	GCK	G58161NS
Defective GALNT3 causes HFTC	Mucin-12 Mucin-13 Mucin-15 Mucin-16 Mucin-17 Mucin-19 Mucin-1 Mucin-20 Mucin-21 Mucin-2 Mucin-3A Mucin-3B Mucin-4 Mucin-5AC Mucin-5B Mucin-6 Mucin-7 Mucin-like protein 1 Polypeptide N-acetylgalactosaminyltransferase 3	P15941 P98088 Q02505 Q02817 Q14435 Q5SSG8 Q685J3 Q6W4X9 Q7Z5P9 Q8N307 Q8N387 Q8TAX7 Q8WXI7 Q96DR8 Q99102 Q9H195 Q9H3R2 Q9HC84 Q9UKN1	C6orf205 CA125 DRCC1 GALNT3 KIAA1359 MG2 MUC1 MUC11 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3 MUC3A MUC3B MUC4 MUC5 MUC5AC MUC5B MUC6 MUC7 MUCL1 PUM RECC SBEM SMUC
Defective GALNT12 causes CRCS1	Mucin-12 Mucin-13 Mucin-15 Mucin-16 Mucin-17 Mucin-19 Mucin-1 Mucin-20 Mucin-21 Mucin-2 Mucin-3A Mucin-3B Mucin-4 Mucin-5AC Mucin-5B Mucin-6 Mucin-7 Mucin-like protein 1 Polypeptide N-acetylgalactosaminyltransferase 12	P15941 P98088 Q02505 Q02817 Q5SSG8 Q685J3 Q6W4X9 Q7Z5P9 Q8IXK2 Q8N307 Q8N387 Q8TAX7 Q8WXI7 Q96DR8 Q99102 Q9H195 Q9H3R2 Q9HC84 Q9UKN1	C6orf205 CA125 DRCC1 GALNT12 KIAA1359 MG2 MUC1 MUC11 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3 MUC3A MUC3B MUC4 MUC5 MUC5AC MUC5B MUC6 MUC7 MUCL1 PUM RECC SBEM SMUC
Defective GALK1 causes GALCT2	Galactokinase	P51570	GALK GALK1	G93924TT
Defective GALE causes EDG	UDP-glucose 4-epimerase	Q14376	GALE
Defective F9 variant does not activate FX	Coagulation factor IX Coagulation factor VIII Coagulation factor X	P00451 P00740 P00742	F10 F8 F8C F9
Defective F9 secretion	Coagulation factor IX	P00740	F9

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