KEGG   Homo sapiens (human): 2720Help
Entry
2720              CDS       T01001                                 

Gene name
GLB1, EBP, ELNR1, MPS4B
Definition
galactosidase, beta 1 (EC:3.2.1.23)
Orthology
K12309  
beta-galactosidase [EC:3.2.1.23]
Organism
hsa  Homo sapiens (human)
Pathway
Galactose metabolism
Other glycan degradation
Glycosaminoglycan degradation
Sphingolipid metabolism
Glycosphingolipid biosynthesis - ganglio series
Metabolic pathways
Lysosome
Module
Keratan sulfate degradation
Disease
H00123  
Mucopolysaccharidosis type IV (MPS4)
H00276  
Galactosialidosis
H00281  
GM1 gangliosidosis
H00421  
Mucopolysaccharidosis (MPS)
H00422  
Glycoproteinoses
H00426  
Defects in the degradation of ganglioside
Class
Metabolism; Carbohydrate metabolism; Galactose metabolism [PATH:hsa00052]
Metabolism; Lipid metabolism; Sphingolipid metabolism [PATH:hsa00600]
Metabolism; Glycan biosynthesis and metabolism; Glycosaminoglycan degradation [PATH:hsa00531]
Metabolism; Glycan biosynthesis and metabolism; Glycosphingolipid biosynthesis - ganglio series [PATH:hsa00604]
Metabolism; Glycan biosynthesis and metabolism; Other glycan degradation [PATH:hsa00511]
Cellular Processes; Transport and catabolism; Lysosome [PATH:hsa04142]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
3p21.33
AA seq 677 aa AA seqDB search
MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRV
PRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVIL
RPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPV
ITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTV
DFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARG
ASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKV
PEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT
TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENM
GRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWA
HNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLT
LFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKR
LMPPPPQKNKDSWLDHV
NT seq 2034 nt NT seq  +upstreamnt  +downstreamnt
atgccggggttcctggttcgcatcctccctctgttgctggttctgctgcttctgggccct
acgcgcggcttgcgcaatgccacccagaggatgtttgaaattgactatagccgggactcc
ttcctcaaggatggccagccatttcgctacatctcaggaagcattcactactcccgtgtg
ccccgcttctactggaaggaccggctgctgaagatgaagatggctgggctgaacgccatc
cagacgtatgtgccctggaactttcatgagccctggccaggacagtaccagttttctgag
gaccatgatgtggaatattttcttcggctggctcatgagctgggactgctggttatcctg
aggcccgggccctacatctgtgcagagtgggaaatgggaggattacctgcttggctgcta
gagaaagagtctattcttctccgctcctccgacccagattacctggcagctgtggacaag
tggttgggagtccttctgcccaagatgaagcctctcctctatcagaatggagggccagtt
ataacagtgcaggttgaaaatgaatatggcagctactttgcctgtgattttgactacctg
cgcttcctgcagaagcgctttcgccaccatctgggggatgatgtggttctgtttaccact
gatggagcacataaaacattcctgaaatgtggggccctgcagggcctctacaccacggtg
gactttggaacaggcagcaacatcacagatgctttcctaagccagaggaagtgtgagccc
aaaggacccttgatcaattctgaattctatactggctggctagatcactggggccaacct
cactccacaatcaagaccgaagcagtggcttcctccctctatgatatacttgcccgtggg
gcgagtgtgaacttgtacatgtttataggtgggaccaattttgcctattggaatggggcc
aactcaccctatgcagcacagcccaccagctacgactatgatgccccactgagtgaggct
ggggacctcactgagaagtattttgctctgcgaaacatcatccagaagtttgaaaaagta
ccagaaggtcctatccctccatctacaccaaagtttgcatatggaaaggtcactttggaa
aagttaaagacagtgggagcagctctggacattctgtgtccctctgggcccatcaaaagc
ctttatcccttgacatttatccaggtgaaacagcattatgggtttgtgctgtaccggaca
acacttcctcaagattgcagcaacccagcacctctctcttcacccctcaatggagtccac
gatcgagcatatgttgctgtggatgggatcccccagggagtccttgagcgaaacaatgtg
atcactctgaacataacagggaaagctggagccactctggaccttctggtagagaacatg
ggacgtgtgaactatggtgcatatatcaacgattttaagggtttggtttctaacctgact
ctcagttccaatatcctcacggactggacgatctttccactggacactgaggatgcagtg
cgcagccacctggggggctggggacaccgtgacagtggccaccatgatgaagcctgggcc
cacaactcatccaactacacgctcccggccttttatatggggaacttctccattcccagt
gggatcccagacttgccccaggacacctttatccagtttcctggatggaccaagggccag
gtctggattaatggctttaaccttggccgctattggccagcccggggccctcagttgacc
ttgtttgtgccccagcacatcctgatgacctcggccccaaacaccatcaccgtgctggaa
ctggagtgggcaccctgcagcagtgatgatccagaactatgtgctgtgacgttcgtggac
aggccagttattggctcatctgtgacctacgatcatccctccaaacctgttgaaaaaaga
ctcatgcccccacccccgcaaaaaaacaaagattcatggctggaccatgtatga

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