KEGG   Homo sapiens (human): 2632
Entry
2632              CDS       T01001                                 

Gene name
GBE1, APBD, GBE, GSD4
Definition
(RefSeq) 1,4-alpha-glucan branching enzyme 1
  KO
K00700  1,4-alpha-glucan branching enzyme [EC:2.4.1.18]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00500  Starch and sucrose metabolism
hsa01100  Metabolic pathways
Module
hsa_M00854  Glycogen biosynthesis, glucose-1P => glycogen/starch
Network
nt06017  Glycogen metabolism
  Element
N00713  Glycogen biosynthesis
N00714  GBE1 deficiency in glycogen biosynthesis
Disease
H00069  Glycogen storage disease
H01760  Hepatic glycogen storage disease
H01762  Muscle glycogen storage disease
H01942  Glycogen storage disease type IV
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00500 Starch and sucrose metabolism
    2632 (GBE1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    2632 (GBE1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.4  Glycosyltransferases
   2.4.1  Hexosyltransferases
    2.4.1.18  1,4-alpha-glucan branching enzyme
     2632 (GBE1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   2632 (GBE1)
SSDB
Motif
Pfam: Alpha-amylase_C CBM_48 Alpha-amylase hDGE_amylase
Other DBs
NCBI-GeneID: 2632
NCBI-ProteinID: NP_000149
OMIM: 607839
HGNC: 4180
Ensembl: ENSG00000114480
Vega: OTTHUMG00000158978
Pharos: Q04446(Tbio)
UniProt: Q04446 Q59ET0
Structure
PDB: 
4BZY 5CLT 5CLW

Position
3p12.2
AA seq 702 aa
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIG
ENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYG
KWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDP
EHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAI
MEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
NMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVT
SMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPAL
CSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESH
DQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMG
NEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAP
QAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGH
QRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
NT seq 2109 nt   +upstreamnt  +downstreamnt
atggcggctccgatgactcccgcggctcggcccgaggactacgaggcggcgctcaatgcc
gccctggctgacgtgcccgaactggccagactcctggagatcgacccgtacttgaagccc
tacgccgtggacttccagcgcaggtataagcagtttagccaaattttgaagaacattgga
gaaaatgaaggtggtattgataagttttccagaggctatgaatcatttggcgtccacaga
tgtgctgatggtggtttatactgcaaagaatgggccccgggagcagaaggagtttttctt
actggagattttaatggttggaatccattttcgtacccatacaaaaaactggattatgga
aaatgggagctgtatatcccaccaaagcagaataaatctgtactcgtgcctcatggatcc
aaattaaaggtagttattactagtaaaagcggagagatcttgtatcgtatttcaccgtgg
gcaaagtatgtggttcgtgaaggtgataatgtgaattatgattggatacactgggatcca
gaacactcatatgagtttaagcattccagaccaaagaagccacggagtctaagaatttat
gaatctcatgtgggaatttcttcccatgaaggaaaagtagcttcttataaacattttaca
tgcaatgtactaccaagaatcaaaggccttggatacaactgcattcagttgatggcaatc
atggagcatgcttactatgccagctttggttaccaaatcacaagcttctttgcagcttcc
agccgttatggaacacctgaagagctacaagaactggtagacacagctcattccatgggt
atcatagtcctcttagatgtggtacacagccatgcttcaaaaaattcagcagatggattg
aatatgtttgatgggacagattcctgttattttcattctggacctagagggactcatgat
ctttgggatagcagattgtttgcctactccagctgggaaattttaagattccttctgtca
aacataagatggtggttggaagaatatcgctttgatggatttcgttttgatggtgttacg
tccatgctttatcatcaccatggagtgggtcaaggtttctcaggtgattacagtgaatat
ttcggactacaagtagatgaagatgccttgacttacctcatgttggcaaatcatttggtt
cacacgctgtgtcccgattctataacaatagctgaggatgtatcaggaatgccagctctg
tgctctccaatttcccagggagggggtggttttgactatcgactagccatggcaattcca
gataagtggattcagctacttaaagagtttaaagatgaagactggaacatgggcgatata
gtatacacgctcacaaacaggcgctaccttgaaaagtgcattgcttatgcagagagccat
gatcaggcattggttggggataagtcgctggcattttggttgatggatgccgaaatgtat
acaaacatgagtgtcctgactccttttactccagttattgatcgtggaatacagcttcat
aaaatgattcgactcattacgcatgggcttggtggagaaggctatctcaatttcatgggt
aatgaatttgggcatcctgaatggttagacttcccaagaaaaggaaataatgagagttac
cattatgccaggcggcagtttcatttaactgacgacgaccttcttcgctacaagttccta
aataattttgacagggatatgaatagattggaagaaagatatggttggcttgcagctcca
caggcctacgtgagtgaaaaacatgaaggcaataagatcattgcttttgaaagagcaggt
cttcttttcattttcaacttccatccaagcaagagctacactgactaccgagttggaaca
gcattgccagggaaattcaaaattgtgctagattcagatgcagcggaatatggagggcat
cagagactggaccacagcactgactttttttctgaggcttttgaacataatgggcgtccc
tattctcttttggtgtacattccaagcagagtggccctcatccttcagaatgtggatctg
ccgaattga

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