KEGG   Homo sapiens (human): 2632Help
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
Disease
H00069  Glycogen storage diseases (GSD)
H01760  Hepatic glycogen storage disease
H01762  Muscle glycogen storage disease
H01942  Glycogen storage disease type IV
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00500 Starch and sucrose metabolism
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Alpha-amylase_C CBM_48 Alpha-amylase hDGE_amylase
Motif
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: 

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

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