MANBA
entrez
4126
canonical
uniprot
O00462
canonical
ensembl
ENSG00000109323
resolver
ensp
ENSP00000495247
resolver
enst
ENST00000647097
resolver
genesymbol
MANBA
resolver
genesymbol_syn
MANB1
resolver
hgnc
HGNC:6831
resolver
uniprot
Q96BC3
resolver
uniprot
Q9NYX9
resolver
uniprot_entry
MANBA_HUMAN
resolver
uniprot_sec
Q96BC3
resolver
uniprot_sec
Q9NYX9
resolver
amino_acid_sequence
MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY
uniprot
proteins
disease_involvement
DISEASE: Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of intellectual disability in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. {ECO:0000269|PubMed:12890191, ECO:0000269|PubMed:16904924, ECO:0000269|PubMed:18565776, ECO:0000269|PubMed:30552791, ECO:0000269|PubMed:9384606}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.25
uniprot
proteins
function
FUNCTION: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides. {ECO:0000305|PubMed:12890191, ECO:0000305|PubMed:30552791}.
uniprot
proteins
mass_dalton
100895
uniprot
proteins
mutagenesis
MUTAGEN 638; /note="R->H: No effect on enzyme activity (in vitro)."; /evidence="ECO:0000269|PubMed:30552791"; MUTAGEN 641; /note="R->H: No effect on enzyme activity (in vitro). Decreased protein stability."; /evidence="ECO:0000269|PubMed:30552791"; MUTAGEN 749; /note="L->H: No effect on enzyme activity (in vitro). No effect on protein stability."; /evidence="ECO:0000269|PubMed:30552791
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; N-glycan degradation. {ECO:0000269|PubMed:12890191, ECO:0000269|PubMed:30552791}.
uniprot
proteins
protein_family
Glycosyl hydrolase 2 family
uniprot
proteins
pubmed
12890191
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16904924
uniprot
proteins
pubmed
18565776
uniprot
proteins
pubmed
30552791
uniprot
proteins
pubmed
9384606
uniprot
proteins
sequence_length
879
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000305}.
uniprot
proteins