GLB1
entrez
2720
canonical
uniprot
P16278
canonical
ensembl
ENSG00000170266
resolver
ensp
ENSP00000305920
resolver
ensp
ENSP00000306920
resolver
ensp
ENSP00000382333
resolver
ensp
ENSP00000780306
resolver
enst
ENST00000307363
resolver
enst
ENST00000307377
resolver
enst
ENST00000399402
resolver
genesymbol
GLB1
resolver
genesymbol_syn
ELNR1
resolver
hgnc
HGNC:4298
resolver
uniprot
B2R7H8
resolver
uniprot
B7Z6B0
resolver
uniprot
B7Z6Q5
resolver
uniprot
E7EQ29
resolver
uniprot
P16279
resolver
uniprot_entry
B7Z6Q5_HUMAN
resolver
uniprot_entry
BGAL_HUMAN
resolver
uniprot_entry
E7EQ29_HUMAN
resolver
uniprot_sec
B2R7H8
resolver
uniprot_sec
B7Z6B0
resolver
uniprot_sec
P16279
resolver
amino_acid_sequence
MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV
uniprot
proteins
disease_involvement
DISEASE: GM1-gangliosidosis 1 (GM1G1) [MIM:230500]: An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. {ECO:0000269|PubMed:10338095, ECO:0000269|PubMed:10737981, ECO:0000269|PubMed:10839995, ECO:0000269|PubMed:1487238, ECO:0000269|PubMed:15365997, ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:15791924, ECO:0000269|PubMed:16538002, ECO:0000269|PubMed:16941474, ECO:0000269|PubMed:17309651, ECO:0000269|PubMed:17664528, ECO:0000269|PubMed:1907800, ECO:0000269|PubMed:1909089, ECO:0000269|PubMed:1928092, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:24737316, ECO:0000269|PubMed:25936995, ECO:0000269|PubMed:8213816, ECO:0000269|Ref.28, ECO:0000269|Ref.31}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: GM1-gangliosidosis 2 (GM1G2) [MIM:230600]: A gangliosidosis characterized by onset between ages 1 and 5. The main symptom is locomotor ataxia, ultimately leading to a state of decerebration with epileptic seizures. Patients do not display the skeletal changes associated with the infantile form, but they nonetheless excrete elevated amounts of beta-linked galactose-terminal oligosaccharides. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10737981, ECO:0000269|PubMed:12644936, ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:16941474, ECO:0000269|PubMed:17309651, ECO:0000269|PubMed:1907800, ECO:0000269|PubMed:1909089, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:24737316, ECO:0000269|PubMed:25936995, ECO:0000269|PubMed:8213816}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: GM1-gangliosidosis 3 (GM1G3) [MIM:230650]: A gangliosidosis with a variable phenotype. Patients show mild skeletal abnormalities, dysarthria, gait disturbance, dystonia and visual impairment. Visceromegaly is absent. Intellectual deficit can initially be mild or absent but progresses over time. Inheritance is autosomal recessive. {ECO:0000269|PubMed:11511921, ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:15986423, ECO:0000269|PubMed:16941474, ECO:0000269|PubMed:17309651, ECO:0000269|PubMed:17664528, ECO:0000269|PubMed:1907800, ECO:0000269|PubMed:1909089, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:24737316, ECO:0000269|PubMed:25936995, ECO:0000269|PubMed:8198123, ECO:0000269|Ref.28, ECO:0000269|Ref.30}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. {ECO:0000269|PubMed:11511921, ECO:0000269|PubMed:12393180, ECO:0000269|PubMed:16538002, ECO:0000269|PubMed:16941474, ECO:0000269|PubMed:17664528, ECO:0000269|PubMed:1928092, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:7586649}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.23
uniprot
proteins
function
FUNCTION: [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. {ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:25936995, ECO:0000269|PubMed:8200356}.; FUNCTION: [Isoform 2]: Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. {ECO:0000269|PubMed:10841810, ECO:0000269|PubMed:8922281}.
uniprot
proteins
mass_dalton
76075
uniprot
proteins
protein_family
Glycosyl hydrolase 35 family
uniprot
proteins
pubmed
10338095
uniprot
proteins
pubmed
10571006
uniprot
proteins
pubmed
10737981
uniprot
proteins
pubmed
10839995
uniprot
proteins
pubmed
10841810
uniprot
proteins
pubmed
11511921
uniprot
proteins
pubmed
12393180
uniprot
proteins
pubmed
12644936
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1487238
uniprot
proteins
pubmed
15365997
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15714521
uniprot
proteins
pubmed
15791924
uniprot
proteins
pubmed
15986423
uniprot
proteins
pubmed
16263699
uniprot
proteins
pubmed
16538002
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16941474
uniprot
proteins
pubmed
17309651
uniprot
proteins
pubmed
17661814
uniprot
proteins
pubmed
17664528
uniprot
proteins
pubmed
1907800
uniprot
proteins
pubmed
1909089
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1928092
uniprot
proteins
pubmed
19472408
uniprot
proteins
pubmed
2111707
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22128166
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24737316
uniprot
proteins
pubmed
2511208
uniprot
proteins
pubmed
25936995
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3084261
uniprot
proteins
pubmed
3143362
uniprot
proteins
pubmed
7586649
uniprot
proteins
pubmed
8198123
uniprot
proteins
pubmed
8200356
uniprot
proteins
pubmed
8213816
uniprot
proteins
pubmed
8383699
uniprot
proteins
pubmed
8922281
uniprot
proteins
pubmed
9203065
uniprot
proteins
pubmed
9497360
uniprot
proteins
sequence_length
677
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Lysosome {ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:3084261}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm, perinuclear region {ECO:0000269|PubMed:2511208}. Note=Localized to the perinuclear area of the cytoplasm but not to lysosomes. {ECO:0000269|PubMed:2511208}.
uniprot
proteins