GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **401 - 425** of **2090** in total

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Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol	GlyTouCan ID
Defective DNA double strand break response due to BARD1 loss of function	BRCA1-associated RING domain protein 1 Breast cancer type 1 susceptibility protein	P38398 Q99728	BARD1 BRCA1 RNF53
Defective DNA double strand break response due to BRCA1 loss of function	BRCA1-associated RING domain protein 1 Breast cancer type 1 susceptibility protein	P38398 Q99728	BARD1 BRCA1 RNF53
Defective DPAGT1 causes CDG-1j, CMSTA2	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	Q9H3H5	DPAGT1 DPAGT2
Defective DPM1 causes CDG-1e	Dolichol phosphate-mannose biosynthesis regulatory protein Dolichol-phosphate mannosyltransferase subunit 1 Dolichol-phosphate mannosyltransferase subunit 3	O60762 O94777 Q9P2X0	DPM1 DPM2 DPM3
Defective DPM2 causes CDG-1u	Dolichol phosphate-mannose biosynthesis regulatory protein Dolichol-phosphate mannosyltransferase subunit 1 Dolichol-phosphate mannosyltransferase subunit 3	O60762 O94777 Q9P2X0	DPM1 DPM2 DPM3
Defective DPM3 causes CDG-1o	Dolichol phosphate-mannose biosynthesis regulatory protein Dolichol-phosphate mannosyltransferase subunit 1 Dolichol-phosphate mannosyltransferase subunit 3	O60762 O94777 Q9P2X0	DPM1 DPM2 DPM3
Defective EXT1 causes exostoses 1, TRPS2 and CHDS	Agrin Basement membrane-specific heparan sulfate proteoglycan core protein Exostosin-1 Exostosin-2 Glypican-1 Glypican-2 Glypican-3 Glypican-4 Glypican-5 Glypican-6 Syndecan-1 Syndecan-2 Syndecan-3 Syndecan-4	O00468 O75056 O75487 P18827 P31431 P34741 P35052 P51654 P78333 P98160 Q16394 Q8N158 Q93063 Q9Y625	AGRIN AGRN EXT1 EXT2 GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 HSPG1 HSPG2 KIAA0468 OCI5 SDC SDC1 SDC2 SDC3 SDC4
Defective EXT2 causes exostoses 2	Agrin Basement membrane-specific heparan sulfate proteoglycan core protein Exostosin-1 Exostosin-2 Glypican-1 Glypican-2 Glypican-3 Glypican-4 Glypican-5 Glypican-6 Syndecan-1 Syndecan-2 Syndecan-3 Syndecan-4	O00468 O75056 O75487 P18827 P31431 P34741 P35052 P51654 P78333 P98160 Q16394 Q8N158 Q93063 Q9Y625	AGRIN AGRN EXT1 EXT2 GPC1 GPC2 GPC3 GPC4 GPC5 GPC6 HSPG1 HSPG2 KIAA0468 OCI5 SDC SDC1 SDC2 SDC3 SDC4
Defective F8 accelerates dissociation of the A2 domain	Coagulation factor VIII	P00451	F8 F8C
Defective F8 binding to the cell membrane	Coagulation factor VIII	P00451	F8 F8C
Defective F8 binding to von Willebrand factor	Coagulation factor VIII von Willebrand factor	P00451 P04275	F8 F8C F8VWF VWF
Defective F8 cleavage by thrombin	Coagulation factor VIII Prothrombin von Willebrand factor	P00451 P00734 P04275	F2 F8 F8C F8VWF VWF
Defective F8 secretion	Coagulation factor VIII	P00451	F8 F8C
Defective F8 sulfation at Y1699	Coagulation factor VIII Protein-tyrosine sulfotransferase 1 Protein-tyrosine sulfotransferase 2	O60507 O60704 P00451	F8 F8C TPST1 TPST2
Defective F9 activation	Coagulation factor IX Coagulation factor XI Platelet glycoprotein IX Platelet glycoprotein Ib alpha chain Platelet glycoprotein Ib beta chain Platelet glycoprotein V	P00740 P03951 P07359 P13224 P14770 P40197	F11 F9 GP1BA GP1BB GP5 GP9
Defective F9 secretion	Coagulation factor IX	P00740	F9
Defective F9 variant does not activate FX	Coagulation factor IX Coagulation factor VIII Coagulation factor X	P00451 P00740 P00742	F10 F8 F8C F9
Defective GALE causes EDG	UDP-glucose 4-epimerase	Q14376	GALE
Defective GALK1 causes GALCT2	Galactokinase	P51570	GALK GALK1	G93924TT
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 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 GCK causes maturity-onset diabetes of the young 2 (MODY2)	Hexokinase-4	P35557	GCK	G58161NS
Defective GCLC causes HAGGSD	Glutamate--cysteine ligase catalytic subunit Glutamate--cysteine ligase regulatory subunit	P48506 P48507	GCLC GCLM GLCL GLCLC GLCLR
Defective GFPT1 causes CMSTA1	Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1	Q06210	GFAT GFPT GFPT1
Defective GGT1 causes GLUTH	Glutathione hydrolase 1 proenzyme	P19440	GGT GGT1

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