KEGG H.sapiens: 2720

Homo sapiens (human): 2720

Entry

2720 CDS H.sapiens

Gene name GLB1

Definition galactosidase, beta 1 (EC:3.2.1.23)

Orthology K12309 beta-galactosidase [EC:3.2.1.23]

Pathway hsa00052 Galactose metabolism
hsa00511 Other glycan degradation
hsa00531 Glycosaminoglycan degradation
hsa00600 Sphingolipid metabolism
hsa00604 Glycosphingolipid biosynthesis - ganglio series
hsa01100 Metabolic pathways
hsa04142 Lysosome

Disease H00123 Mucopolysaccharidosis type IV (MPS4)
H00276 Galactosialidosis
H00281 GM1 gangliosidosis

Class Metabolism; Carbohydrate Metabolism; Galactose metabolism
[PATH:hsa00052]
Metabolism; Lipid Metabolism; Sphingolipid metabolism
[PATH:hsa00600]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosphingolipid
biosynthesis - ganglio series [PATH:hsa00604]
Metabolism; Glycan Biosynthesis and Metabolism; Glycosaminoglycan
degradation [PATH:hsa00531]
Metabolism; Glycan Biosynthesis and Metabolism; Other glycan
degradation [PATH:hsa00511]
Cellular Processes; Transport and Catabolism; Lysosome
[PATH:hsa04142]

SSDB

Motif Pfam: Glyco_hydro_35 Glyco_hydro_42
PROSITE: GLYCOSYL_HYDROL_F35

Other DBs NCBI-GI: 119372308
NCBI-GeneID: 2720
OMIM: 611458
HGNC: 4298
HPRD: 01975
Ensembl: ENSG00000170266
UniProt: P16278

Position 3p21.33

AA seq 677 aa
MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRV
PRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVIL
RPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPV
ITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTV
DFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARG
ASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKV
PEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT
TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENM
GRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWA
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
cgcagccacctggggggctggggacaccgtgacagtggccaccatgatgaagcctgggcc
cacaactcatccaactacacgctcccggccttttatatggggaacttctccattcccagt
gggatcccagacttgccccaggacacctttatccagtttcctggatggaccaagggccag
gtctggattaatggctttaaccttggccgctattggccagcccggggccctcagttgacc
ttgtttgtgccccagcacatcctgatgacctcggccccaaacaccatcaccgtgctggaa
ctggagtgggcaccctgcagcagtgatgatccagaactatgtgctgtgacgttcgtggac
aggccagttattggctcatctgtgacctacgatcatccctccaaacctgttgaaaaaaga
ctcatgcccccacccccgcaaaaaaacaaagattcatggctggaccatgtatga

All links

Pathway (7)   
   KEGG PATHWAY (7)   
Disease (4)   
   KEGG DISEASE (3)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (16)   
   UniProt (1)   
   RefSeq(pep) (3)   
   IPI (12)   
DNA sequence (9)   
   RefSeq(nuc) (3)   
   GenBank (3)   
   EMBL (3)   
Protein domain (3)   
   Pfam (2)   
   PROSITE (1)   
All databases (53)

DBGET integrated database retrieval system