| Tag | Content |
|---|---|
| UniProt Accession | GYS1_HUMAN; P13807; |
| Entrez ID | 2997 |
| GenBank Protein ID | NM_001161587.1; NM_002103.4; |
| GenBank Nucleotide ID | NP_001155059.1; NP_002094.2; |
| Protein Name | Glycogen [starch] synthase, muscle (EC 2.4.1.11) |
| Gene Name | GYS1; GYS |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. |
| Sequence (Fasta) | MPLNRTLSMS SLPGLEDWED EFDLENAVLF EVAWEVANKV GGIYTVLQTK AKVTGDEWGD 60 NYFLVGPYTE QGVRTQVELL EAPTPALKRT LDSMNSKGCK VYFGRWLIEG GPLVVLLDVG 120 ASAWALERWK GELWDTCNIG VPWYDREAND AVLFGFLTTW FLGEFLAQSE EKPHVVAHFH 180 EWLAGVGLCL CRARRLPVAT IFTTHATLLG RYLCAGAVDF YNNLENFNVD KEAGERQIYH 240 RYCMERAAAH CAHVFTTVSQ ITAIEAQHLL KRKPDIVTPN GLNVKKFSAM HEFQNLHAQS 300 KARIQEFVRG HFYGHLDFNL DKTLYFFIAG RYEFSNKGAD VFLEALARLN YLLRVNGSEQ 360 TVVAFFIMPA RTNNFNVETL KGQAVRKQLW DTANTVKEKF GRKLYESLLV GSLPDMNKML 420 DKEDFTMMKR AIFATQRQSF PPVCTHNMLD DSSDPILTTI RRIGLFNSSA DRVKVIFHPE 480 FLSSTSPLLP VDYEEFVRGC HLGVFPSYYE PWGYTPAECT VMGIPSISTN LSGFGCFMEE 540 HIADPSAYGI YILDRRFRSL DDSCSQLTSF LYSFCQQSRR QRIIQRNRTE RLSDLLDWKY 600 LGRYYMSARH MALSKAFPEH FTYEPNEADA AQGYRYPRPA SVPPSPSLSR HSSPHQSEDE 660 EDPRNGPLEE DGERYDEDEE AAKDRRNIRA PEWPRRASCT SSTSGSKRNS VDTATSSSLS 720 TPSEPLSPTS SLGEERN 738 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 1) | MESH:C566917 ; Glycogen Storage Disease 0, Muscle |
| DisGeNet (Curated) (count: 7) (view all) | C0149721; Left Ventricular Hypertrophy
C0424551; Impaired exercise tolerance C0494475; Tonic - clonic seizures C0878544; Cardiomyopathies C1969054; Glycogen Storage Disease 0, Muscle C4020899; Autosomal recessive predisposition |
| GWASdb (count: 3) | rs12980441; Height; Null
rs12980441; Lung function (forced vital capacity); lung disease rs3764618; Follicle stimulating hormone; gonadal disease|ovarian disease |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 39) (view all) | 10 LNRTLSMSSLPGLED dbPAF
102 NSKGCKVYFGRWLIE dbPAF 11 NRTLSMSSLPGLEDW dbPAF 405 EKFGRKLYESLLVGS dbPAF 412 YESLLVGSLPDMNKM dbPAF 44 ANKVGGIYTVLQTKA dbPAF |
| Acetylation (count: 1) | 286 PNGLNVKKFSAMHEF PLMD |
| Ubiquitination (count: 19) (view all) | 231 LENFNVDKEAGERQI PLMD
271 IEAQHLLKRKPDIVT PLMD 273 AQHLLKRKPDIVTPN PLMD 286 PNGLNVKKFSAMHEF PLMD 301 QNLHAQSKARIQEFV PLMD 381 NFNVETLKGQAVRKQ PLMD |
| Malonylation (count: 1) | 301 QNLHAQSKARIQEFV PLMD |
| Network | Interaction | ||
|---|---|---|---|
| A | B | Source | |