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

Gene name
GLB1, EBP, ELNR1, MPS4B
Definition
(RefSeq) galactosidase beta 1
  KO
K12309  beta-galactosidase [EC:3.2.1.23]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00052  Galactose metabolism
hsa00511  Other glycan degradation
hsa00531  Glycosaminoglycan degradation
hsa00600  Sphingolipid metabolism
hsa00604  Glycosphingolipid biosynthesis - ganglio series
hsa01100  Metabolic pathways
hsa04142  Lysosome
Module
hsa_M00079  Keratan sulfate degradation
Network
nt06012  Glycosaminoglycan degradation
nt06014  Sphingolipid degradation
  Element
N00623  Keratan sulfate degradation
N00624  GNS deficiency in keratan sulfate degradation
N00625  GLB1 deficiency in keratan sulfate degradation
N00640  Hydrolysis of lactosylceramide
N00641  GBA deficiency in lactosylceramide hydrolysis
Disease
H00123  Mucopolysaccharidosis type IV
H00281  GM1 gangliosidosis
H00421  Mucopolysaccharidosis
H00422  Glycoproteinoses
H00423  Sphingolipidosis
H00426  Gangliosidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00052 Galactose metabolism
    2720 (GLB1)
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    2720 (GLB1)
  09107 Glycan biosynthesis and metabolism
   00531 Glycosaminoglycan degradation
    2720 (GLB1)
   00604 Glycosphingolipid biosynthesis - ganglio series
    2720 (GLB1)
   00511 Other glycan degradation
    2720 (GLB1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    2720 (GLB1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    2720 (GLB1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.2  Glycosylases
   3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
    3.2.1.23  beta-galactosidase
     2720 (GLB1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   2720 (GLB1)
SSDB
Motif
Pfam: Glyco_hydro_35 Glyco_hydro_42 BetaGal_dom4_5
Other DBs
NCBI-GeneID: 2720
NCBI-ProteinID: NP_000395
OMIM: 611458
HGNC: 4298
Ensembl: ENSG00000170266
Vega: OTTHUMG00000155781
Pharos: P16278(Tchem)
UniProt: P16278
Structure
PDB: 

Position
3p22.3
AA seq 677 aa
MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRV
PRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVIL
RPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPV
ITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTV
DFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARG
ASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKV
PEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT
TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENM
GRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVCSHLGGWGHRDSGHHDEAWA
HNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLT
LFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKR
LMPPPPQKNKDSWLDHV
NT seq 2034 nt   +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
tgcagccacctggggggctggggacaccgtgacagtggccaccatgatgaagcctgggcc
cacaactcatccaactacacgctcccggccttttatatggggaacttctccattcccagt
gggatcccagacttgccccaggacacctttatccagtttcctggatggaccaagggccag
gtctggattaatggctttaaccttggccgctattggccagcccggggccctcagttgacc
ttgtttgtgccccagcacatcctgatgacctcggccccaaacaccatcaccgtgctggaa
ctggagtgggcaccctgcagcagtgatgatccagaactatgtgctgtgacgttcgtggac
aggccagttattggctcatctgtgacctacgatcatccctccaaacctgttgaaaaaaga
ctcatgcccccacccccgcaaaaaaacaaagattcatggctggaccatgtatga

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (8)   
   KEGG PATHWAY (7)   
   KEGG MODULE (1)   
Network (5)   
   KEGG NETWORK (5)   
Disease (11)   
   KEGG DISEASE (6)   
   OMIM (5)   
Chemical substance (8)   
   KEGG COMPOUND (8)   
Chemical reaction (6)   
   KEGG ENZYME (1)   
   KEGG REACTION (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (45)   
   RefSeq(nuc) (5)   
   GenBank (20)   
   EMBL (20)   
Protein domain (3)   
   Pfam (3)   
All databases (121)   

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