KEGG H.sapiens: 2997

Homo sapiens (human): 2997

Entry

2997 CDS H.sapiens

Gene name GYS1

Definition glycogen synthase 1 (muscle) (EC:2.4.1.11)

Orthology K00693 glycogen(starch) synthase [EC:2.4.1.11]

Pathway hsa00500 Starch and sucrose metabolism
hsa04910 Insulin signaling pathway

Disease H00069 Glycogen storage diseases (GSD)

Class Metabolism; Carbohydrate Metabolism; Starch and sucrose metabolism
[PATH:hsa00500]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosyltransferases
Organismal Systems; Endocrine System; Insulin signaling pathway
[PATH:hsa04910]

SSDB

Motif Pfam: Glycogen_syn Glycos_transf_1 Glyco_transf_5

Other DBs NCBI-GI: 239049591
NCBI-GeneID: 2997
OMIM: 138570
HGNC: 4706
HPRD: 00721
Ensembl: ENSG00000104812
UniProt: P13807 Q9BTT9

Position 19q13.3

AA seq 673 aa
MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGD
NYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKFLAQSEEKPHVVAHFHEWLA
GVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYHRYCM
ERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQSKARI
QEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQTVVA
FFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKMLDKED
FTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPEFLSS
TSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEEHIAD
PSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKYLGRY
YMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDEEDPR
NGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLSTPSE
PLSPTSSLGEERN

NT seq 2022 nt +upstreamnt +downstreamnt
atgcctttaaaccgcactttgtccatgtcctcactgccaggactggaggactgggaggat
gaattcgacctggagaacgcagtgctcttcgaagtggcctgggaggtggctaacaaggtg
ggtggcatctacacggtgctgcagacgaaggcgaaggtgacaggggacgaatggggcgac
aactacttcctggtggggccgtacacggagcagggcgtgaggacccaggtggaactgctg
gaggcccccaccccggccctgaagaggacactggattccatgaacagcaagggctgcaag
ttcctggcacagagtgaggagaagccacatgtggttgctcacttccatgagtggttggca
ggcgttggactctgcctgtgtcgtgcccggcgactgcctgtagcaaccatcttcaccacc
catgccacgctgctggggcgctacctgtgtgccggtgccgtggacttctacaacaacctg
gagaacttcaacgtggacaaggaagcaggggagaggcagatctaccaccgatactgcatg
gaaagggcggcagcccactgcgctcacgtcttcactactgtgtcccagatcaccgccatc
gaggcacagcacttgctcaagaggaaaccagatattgtgacccccaatgggctgaatgtg
aagaagttttctgccatgcatgagttccagaacctccatgctcagagcaaggctcgaatc
caggagtttgtgcggggccatttttatgggcatctggacttcaacttggacaagacctta
tacttctttatcgccggccgctatgagttctccaacaagggtgctgacgtcttcctggag
gcattggctcggctcaactatctgctcagagtgaacggcagcgagcagacagtggttgcc
ttcttcatcatgccagcgcggaccaacaatttcaacgtggaaaccctcaaaggccaagct
gtgcgcaaacagctttgggacacggccaacacggtgaaggaaaagttcgggaggaagctt
tatgaatccttactggttgggagccttcccgacatgaacaagatgctggataaggaagac
ttcactatgatgaagagagccatctttgcaacgcagcggcagtctttcccccctgtgtgc
acccacaatatgctggatgactcctcagaccccatcctgaccaccatccgccgaatcggc
ctcttcaatagcagtgccgacagggtgaaggtgattttccacccggagttcctctcctcc
acaagccccctgctccctgtggactatgaggagtttgtccgtggctgtcaccttggagtc
ttcccctcctactatgagccttggggctacacaccggctgagtgcacggttatgggaatc
cccagtatctccaccaatctctccggcttcggctgcttcatggaggaacacatcgcagac
ccctcagcttacggtatctacattcttgaccggcggttccgcagcctggatgattcctgc
tcgcagctcacctccttcctctacagtttctgtcagcagagccggcggcagcgtatcatc
cagcggaaccgcacggagcgcctctccgaccttctggactggaaatacctaggccggtac
tatatgtctgcgcgccacatggcgctgtccaaggcctttccagagcacttcacctacgag
cccaacgaggcggatgcggcccaggggtaccgctacccacggccagcctcggtgccaccg
tcgccctcgctgtcacgacactccagcccgcaccagagtgaggacgaggaggatccccgg
aacgggccgctggaggaagacggcgagcgctacgatgaggacgaggaggccgccaaggac
cggcgcaacatccgtgcaccagagtggccgcgccgagcgtcctgcacctcctccaccagc
ggcagcaagcgcaactctgtggacacggccacctccagctcactcagcaccccgagcgag
cccctcagccccaccagctccctgggcgaggagcgtaactaa

All links

Pathway (2)   
   KEGG PATHWAY (2)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (4)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (7)   
   UniProt (2)   
   RefSeq(pep) (2)   
   IPI (3)   
DNA sequence (12)   
   RefSeq(nuc) (2)   
   GenBank (5)   
   EMBL (5)   
Protein domain (3)   
   Pfam (3)   
All databases (38)

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