Hmdb loader
Identification
HMDB Protein ID HMDBP01091
Secondary Accession Numbers
  • 6380
Name Glycogen [starch] synthase, liver
Synonyms Not Available
Gene Name GYS2
Protein Type Enzyme
Biological Properties
General Function Involved in glycogen (starch) synthase activity
Specific Function Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
Pathways
  • glycogen biosynthesis
  • Glycogen synthetase deficiency
  • Glycogenosis, Type III. Cori disease, Debrancher glycogenosis
  • Glycogenosis, Type IV. Amylopectinosis, Anderson disease
  • Glycogenosis, Type VI. Hers disease
  • Insulin signaling pathway
  • Mucopolysaccharidosis VI. Sly syndrome
  • PI3K-Akt signaling pathway
  • Starch and sucrose metabolism
  • Starch and Sucrose Metabolism
  • Sucrase-isomaltase deficiency
Reactions
UDP-glucose ((1->4)-alpha-D-glucosyl)(n) → Uridine 5'-diphosphate + ((1->4)-alpha-D-glucosyl)(n+1) details
Uridine diphosphate glucose + Amylose → Uridine 5'-diphosphate + Amylose details
GO Classification
Biological Process
small molecule metabolic process
glucose metabolic process
response to glucose stimulus
glycogen biosynthetic process
Cellular Component
cytosol
cortical actin cytoskeleton
ectoplasm
Function
catalytic activity
transferase activity
udp-glycosyltransferase activity
transferase activity, transferring glycosyl groups
udp-glucosyltransferase activity
glycogen (starch) synthase activity
Molecular Function
glycogen (starch) synthase activity
protein homodimerization activity
Process
metabolic process
glycogen metabolic process
glycogen biosynthetic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
glucose metabolic process
Cellular Location Not Available
Gene Properties
Chromosome Location 12
Locus 12p12.2
SNPs GYS2
Gene Sequence
>2112 bp
ATGCTTCGAGGCCGATCCCTCTCTGTAACATCCCTGGGTGGGCTTCCCCAGTGGGAAGTC
GAAGAACTTCCTGTGGAGGAGTTACTGCTCTTTGAAGTTGCTTGGGAAGTGACCAATAAA
GTTGGAGGCATCTATACTGTGATTCAGACAAAGGCCAAAACAACAGCAGATGAATGGGGA
GAGAACTATTTTCTGATAGGTCCATATTTTGAGCATAATATGAAGACTCAGGTGGAACAG
TGTGAACCTGTAAATGATGCTGTCAGAAGAGCAGTGGACGCAATGAATAAGCATGGCTGC
CAGGTGCATTTTGGAAGATGGCTGATAGAAGGAAGTCCTTATGTGGTACTTTTTGACATA
GGCTATTCAGCTTGGAATCTGGACAGGTGGAAGGGTGACCTCTGGGAAGCATGCAGTGTC
GGCATTCCTTATCATGACCGAGAAGCCAATGATATGCTGATATTTGGATCTTTAACTGCC
TGGTTCTTAAAAGAGGTGACAGATCATGCAGATGGTAAATATGTCGTTGCCCAATTCCAT
GAATGGCAGGCTGGAATTGGACTGATCCTTTCTCGAGCCAGGAAACTTCCTATTGCCACA
ATATTTACAACCCACGCTACACTACTTGGGAGGTATCTCTGTGCAGCAAATATTGATTTC
TACAACCATCTTGATAAGTTTAACATTGACAAAGAGGCTGGGGAAAGGCAGATTTACCAC
CGGTACTGCATGGAGCGAGCTTCCGTTCATTGCGCTCACGTGTTCACCACGGTTTCTGAA
ATAACAGCAATAGAAGCTGAACATATGCTGAAGAGAAAGCCTGATGTAGTTACTCCAAAC
GGCTTGAATGTTAAGAAATTTTCAGCAGTGCATGAGTTTCAAAATCTACATGCCATGTAC
AAGGCCAGAATCCAAGATTTTGTTCGAGGTCATTTCTATGGTCATCTCGACTTTGATCTT
GAAAAGACTTTGTTCCTTTTCATTGCTGGGAGGTATGAGTTTTCAAACAAAGGAGCTGAC
ATCTTCCTAGAATCCTTATCCAGGCTAAATTTCCTGCTGAGGATGCATAAAAGTGACATC
ACAGTGATGGTGTTTTTCATTATGCCTGCCAAGACAAATAATTTCAACGTGGAAACCCTG
AAAGGACAAGCAGTGCGAAAACAGCTGTGGGATGTTGCACATTCTGTGAAGGAAAAGTTT
GGAAAAAAACTCTATGATGCATTATTAAGAGGAGAAATTCCTGACCTGAACGATATTTTA
GATCGAGATGATCTAACAATTATGAAAAGAGCCATCTTTTCAACTCAGCGACAGTCATTG
CCCCCAGTGACCACGCACAACATGATTGATGACTCCACCGACCCCATCCTCAGCACCATT
AGACGGATTGGACTTTTCAACAACCGCACAGATAGAGTCAAGGTGATTTTGCACCCAGAG
TTTCTATCCTCCACCAGTCCCTTACTACCCATGGACTATGAAGAGTTTGTTAGAGGTTGT
CATCTTGGAGTATTTCCATCATACTATGAACCCTGGGGTTATACTCCAGCTGAATGCACT
GTGATGGGTATCCCCAGTGTGACCACGAATCTCTCCGGGTTTGGCTGTTTCATGCAGGAG
CACGTGGCTGATCCTACTGCTTACGGTATTTACATCGTTGACAGGCGGTTCCGTTCTCCA
GATGATTCTTGCAATCAGCTGACTAAGTTTCTCTATGGATTTTGCAAACAGTCACGCCGC
CAAAGGATTATCCAGAGGAACAGAACTGAGAGGCTCTCAGATCTTCTGGATTGGAGATAC
TTAGGCAGATATTACCAGCATGCCAGACACCTGACATTAAGCAGAGCTTTTCCAGATAAA
TTCCATGTGGAACTAACATCACCACCAACGACAGAAGGATTTAAATATCCCAGGCCTTCC
TCAGTACCACCTTCTCCTTCAGGGTCTCAGGCCTCCAGTCCTCAGAGCAGTGATGTGGAA
GATGAAGTGGAGGATGAGAGATACGATGAGGAAGAGGAGGCTGAAAGGGATCGGTTAAAT
ATCAAGTCACCATTTTCACTGAGCCACGTTCCTCATGGGAAGAAAAAGCTGCATGGTGAA
TATAAGAACTGA
Protein Properties
Number of Residues 703
Molecular Weight 80988.42
Theoretical pI 6.825
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Glycogen [starch] synthase, liver
MLRGRSLSVTSLGGLPQWEVEELPVEELLLFEVAWEVTNKVGGIYTVIQTKAKTTADEWG
ENYFLIGPYFEHNMKTQVEQCEPVNDAVRRAVDAMNKHGCQVHFGRWLIEGSPYVVLFDI
GYSAWNLDRWKGDLWEACSVGIPYHDREANDMLIFGSLTAWFLKEVTDHADGKYVVAQFH
EWQAGIGLILSRARKLPIATIFTTHATLLGRYLCAANIDFYNHLDKFNIDKEAGERQIYH
RYCMERASVHCAHVFTTVSEITAIEAEHMLKRKPDVVTPNGLNVKKFSAVHEFQNLHAMY
KARIQDFVRGHFYGHLDFDLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSDI
TVMVFFIMPAKTNNFNVETLKGQAVRKQLWDVAHSVKEKFGKKLYDALLRGEIPDLNDIL
DRDDLTIMKRAIFSTQRQSLPPVTTHNMIDDSTDPILSTIRRIGLFNNRTDRVKVILHPE
FLSSTSPLLPMDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSVTTNLSGFGCFMQE
HVADPTAYGIYIVDRRFRSPDDSCNQLTKFLYGFCKQSRRQRIIQRNRTERLSDLLDWRY
LGRYYQHARHLTLSRAFPDKFHVELTSPPTTEGFKYPRPSSVPPSPSGSQASSPQSSDVE
DEVEDERYDEEEEAERDRLNIKSPFSLSHVPHGKKKLHGEYKN
GenBank ID Protein 119372286
UniProtKB/Swiss-Prot ID P54840
UniProtKB/Swiss-Prot Entry Name GYS2_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_021957.3
GeneCard ID GYS2
GenAtlas ID GYS2
HGNC ID HGNC:4707
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [PubMed:16541075 ]
  3. Nuttall FQ, Gannon MC, Bai G, Lee EY: Primary structure of human liver glycogen synthase deduced by cDNA cloning. Arch Biochem Biophys. 1994 Jun;311(2):443-9. [PubMed:8203908 ]
  4. Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC: Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998 Aug 1;102(3):507-15. [PubMed:9691087 ]