GlyCosmos Portal

GlyCosmos Pathways

Integrated of pathway data, containing glycoproteins and glycans obtained from Reactome and the Metabolism of carbohydrates in Escherichia coli O-antigens obtained from ECODAB. Search by pathway name, species, and protein name.

Source	Last Updated
Reactome	March 20, 2024
ECODAB	April 1, 2019

Displaying entries **351 - 375** of **2090** in total

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Pathway Name ▲	Protein Name	UniProt ID	Gene Symbol	Organism
Defective ABCA12 causes ARCI4B	Glucosylceramide transporter ABCA12	Q86UK0	ABC12 ABCA12	Homo sapiens (human)
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3	Homo sapiens (human)
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3	Homo sapiens (human)
Defective ABCB11 causes PFIC2 and BRIC2	Bile salt export pump	O95342	ABCB11 BSEP	Homo sapiens (human)
Defective ABCB4 causes PFIC3, ICP3 and GBD1	Phosphatidylcholine translocator ABCB4	P21439	ABCB4 MDR3 PGY3	Homo sapiens (human)
Defective ABCB6 causes MCOPCB7	ATP-binding cassette sub-family B member 6	Q9NP58	ABCB6 MTABC3 PRP UMAT	Homo sapiens (human)
Defective ABCC2 causes DJS	ATP-binding cassette sub-family C member 2	Q92887	ABCC2 CMOAT CMOAT1 CMRP MRP2	Homo sapiens (human)
Defective ABCC6 causes PXE	ATP-binding cassette sub-family C member 6	O95255	ABCC6 ARA MRP6	Homo sapiens (human)
Defective ABCC8 can cause hypo- and hyper-glycemias	ATP-binding cassette sub-family C member 8 ATP-sensitive inward rectifier potassium channel 11	Q09428 Q14654	ABCC8 HRINS KCNJ11 SUR SUR1	Homo sapiens (human)
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome	ATP-binding cassette sub-family C member 9 ATP-sensitive inward rectifier potassium channel 11	O60706 Q14654	ABCC9 KCNJ11 SUR2	Homo sapiens (human)
Defective ABCD1 causes ALD	ATP-binding cassette sub-family D member 1	P33897	ABCD1 ALD	Homo sapiens (human)
Defective ABCD4 causes MAHCJ	Lysosomal cobalamin transport escort protein LMBD1 Lysosomal cobalamin transporter ABCD4	O14678 Q9NUN5	ABCD4 C6orf209 LMBRD1 NESI PXMP1L	Homo sapiens (human)
Defective ABCG5 causes sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8	Homo sapiens (human)
Defective ABCG8 causes GBD4 and sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8	Homo sapiens (human)
Defective ACTH causes obesity and POMCD	Adrenocorticotropic hormone receptor Pro-opiomelanocortin	P01189 Q01718	ACTHR MC2R POMC	Homo sapiens (human)
Defective ACY1 causes encephalopathy	Aminoacylase-1	Q03154	ACY1	Homo sapiens (human)
Defective ADA disrupts (deoxy)adenosine deamination	Adenosine deaminase	P00813	ADA ADA1	Homo sapiens (human)
Defective AHCY causes HMAHCHD	Adenosylhomocysteinase	P23526	AHCY SAHH	Homo sapiens (human)
Defective ALG1 causes CDG-1k	Chitobiosyldiphosphodolichol beta-mannosyltransferase	Q9BT22	ALG1 HMAT1 HMT1	Homo sapiens (human)
Defective ALG11 causes CDG-1p	GDP-Man	Q2TAA5	ALG11 GT8	Homo sapiens (human)
Defective ALG14 causes ALG14-CMS	UDP-N-acetylglucosamine transferase subunit ALG13 UDP-N-acetylglucosamine transferase subunit ALG14	Q96F25 Q9NP73	ALG13 ALG14 CXorf45 GLT28D1	Homo sapiens (human)
Defective ALG9 causes CDG-1l	Alpha-1,2-mannosyltransferase ALG9	Q9H6U8	ALG9 DIBD1	Homo sapiens (human)
Defective AMN causes MGA1	Cobalamin binding intrinsic factor Cubilin Protein amnionless	O60494 P27352 Q9BXJ7	AMN CBLIF CUBN GIF IFCR IFMH	Homo sapiens (human)
Defective APRT disrupts adenine salvage	Adenine phosphoribosyltransferase	P07741	APRT	Homo sapiens (human)
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)	Vasopressin V1a receptor Vasopressin V1b receptor Vasopressin-neurophysin 2-copeptin	P01185 P37288 P47901	ARVP AVP AVPR1 AVPR1A AVPR1B AVPR3 VP VPR3	Homo sapiens (human)

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