GlyCosmos Portal

Homo sapiens (human)

Summary

Taxonomy ID: 9606
PubChem Taxonomy: 9606

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

Displaying entries **26 - 50** of **2090** in total

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Pathway Name	Protein Name	UniProt ID ▼	Gene Symbol
Defective ALG9 causes CDG-1l	Alpha-1,2-mannosyltransferase ALG9	Q9H6U8	ALG9 DIBD1
Defective DPAGT1 causes CDG-1j, CMSTA2	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	Q9H3H5	DPAGT1 DPAGT2
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
Defective ABCG5 causes sitosterolemia	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 8	Q9H221 Q9H222	ABCG5 ABCG8
ZBP1(DAI) mediated induction of type I IFNs	Z-DNA-binding protein 1	Q9H171	C20orf183 DLM1 ZBP1
FGFR1c and Klotho ligand binding and activation	Fibroblast growth factor 23	Q9GZV9	FGF23 HYPF
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)	High affinity choline transporter 1	Q9GZV3	CHT1 SLC5A7
Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)	High affinity choline transporter 1	Q9GZV3	CHT1 SLC5A7
Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)	Equilibrative nucleoside transporter 3	Q9BZD2	ENT3 SLC29A3
Toll Like Receptor 10 (TLR10) Cascade	Toll-like receptor 10	Q9BXR5	TLR10
Defective ALG1 causes CDG-1k	Chitobiosyldiphosphodolichol beta-mannosyltransferase	Q9BT22	ALG1 HMAT1 HMT1
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)	Hephaestin Solute carrier family 40 member 1	Q9BQS7 Q9NP59	FPN FPN1 HEPH IREG1 KIAA0698 SLC11A3 SLC40A1
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3
Defective ABCA3 causes SMDP3	Phospholipid-transporting ATPase ABCA3	Q99758	ABC3 ABCA3
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
TWIK-related alkaline pH activated K+ channel (TALK)	Potassium channel subfamily K member 16 Potassium channel subfamily K member 17	Q96T54 Q96T55	KCNK16 KCNK17 TALK1 TALK2 TASK4
Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)	Solute carrier family 22 member 12	Q96S37	OATL4 SLC22A12 URAT1
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria	Inactive sodium-dependent neutral amino acid transporter B(0)AT3	Q96N87	B0AT3 SLC6A18 XTRP2
Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria	Inactive sodium-dependent neutral amino acid transporter B(0)AT3	Q96N87	B0AT3 SLC6A18 XTRP2
Defective ALG14 causes ALG14-CMS	UDP-N-acetylglucosamine transferase subunit ALG13 UDP-N-acetylglucosamine transferase subunit ALG14	Q96F25 Q9NP73	ALG13 ALG14 CXorf45 GLT28D1
Defective MMAB causes MMA, cblB type	Corrinoid adenosyltransferase MMAB	Q96EY8	MMAB
Regulation of MITF-M dependent genes involved in metabolism	NAD-dependent protein deacetylase sirtuin-1 Peroxisome proliferator-activated receptor gamma coactivator 1-alpha	Q96EB6 Q9UBK2	LEM6 PGC1 PGC1A PPARGC1 PPARGC1A SIR2L1 SIRT1
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)	Solute carrier organic anion transporter family member 2A1	Q92959	OATP2A1 SLC21A2 SLCO2A1
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)	Sodium/iodide cotransporter	Q92911	NIS SLC5A5

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