KEGG H.sapiens: 2632

Homo sapiens (human): 2632

Entry

2632 CDS H.sapiens

Gene name GBE1

Definition glucan (1,4-alpha-), branching enzyme 1 (EC:2.4.1.18)

Orthology K00700 1,4-alpha-glucan branching enzyme [EC:2.4.1.18]

Pathway hsa00500 Starch and sucrose metabolism
hsa01100 Metabolic pathways

Disease H00069 Glycogen storage diseases (GSD)

Class Metabolism; Carbohydrate Metabolism; Starch and sucrose metabolism
[PATH:hsa00500]

SSDB

Motif Pfam: Alpha-amylase_C Alpha-amylase CBM_48

Other DBs NCBI-GI: 189458812
NCBI-GeneID: 2632
OMIM: 607839
HGNC: 4180
HPRD: 01985
Ensembl: ENSG00000114480
UniProt: B3KWV3 Q04446 Q59ET0

Position 3p12.3

AA seq 702 aa
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIG
ENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYG
KWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDP
EHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAI
MEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
NMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEVLRFLLSNIRWWLEEYRFDGFRFDGVT
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
ctttgggatagcagattgtttgcctactccagctgggaagttttaagattccttctgtca
aacataagatggtggttggaagaatatcgctttgatggatttcgttttgatggtgttacg
tccatgctttatcatcaccatggagtgggtcaaggtttctcaggtgattacagtgaatat
ttcggactacaagtagatgaagatgccttgacttacctcatgttggcaaatcatttggtt
cacacgctgtgtcccgattctataacaatagctgaggatgtatcaggaatgccagctctg
tgctctccaatttcccagggagggggtggttttgactatcgactagccatggcaattcca
gataagtggattcagctacttaaagagtttaaagatgaagactggaacatgggcgatata
gtatacacgctcacaaacaggcgctaccttgaaaagtgcattgcttatgcagagagccat
gatcaggcattggttggggataagtcgctggcattttggttgatggatgccgaaatgtat
acaaacatgagtgtcctgactccttttactccagttattgatcgtggaatacagcttcat
aaaatgattcgactcattacgcatgggcttggtggagaaggctatctcaatttcatgggt
aatgaatttgggcatcctgaatggttagacttcccaagaaaaggaaataatgagagttac
cattatgccaggcggcagtttcatttaactgacgacgaccttcttcgctacaagttccta
aataattttgacagggatatgaatagattggaagaaagatatggttggcttgcagctcca
caggcctacgtgagtgaaaaacatgaaggcaataagatcattgcttttgaaagagcaggt
cttcttttcattttcaacttccatccaagcaagagctacactgactaccgagttggaaca
gcattgccagggaaattcaaaattgtgctagattcagatgcagcggaatatggagggcat
cagagactggaccacagcactgactttttttctgaggcttttgaacataatgggcgtccc
tattctcttttggtgtacattccaagcagagtggccctcatccttcagaatgtggatctg
ccgaattga

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 (9)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (3)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (7)   
   UniProt (3)   
   RefSeq(pep) (1)   
   IPI (3)   
DNA sequence (9)   
   RefSeq(nuc) (1)   
   GenBank (4)   
   EMBL (4)   
Protein domain (3)   
   Pfam (3)   
All databases (34)

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