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MAN2B1 mannosidase, alpha, class 2B, member 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000528 Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $1198.00 $1149.00 16
NM_001173498 Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005259913 PREDICTED: Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol MAN2B1
Entrez Gene ID 4125
Full Name mannosidase, alpha, class 2B, member 1
Synonyms LAMAN, MANB
General protein information
Preferred Names
lysosomal alpha-mannosidase
Names
lysosomal alpha-mannosidase
mannosidase alpha-B
mannosidase, alpha B, lysosomal
lysosomal acid alpha-mannosidase
NP_000519.2
NP_001166969.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19p13.2

Summary This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].
Disorder

MIM: 609458

Mannosidosis, alpha-, types I and II, 248500 (3)

mRNA Protein Product Sequence Price Select
NM_000528, 187828659 NP_000519, 51873064 lysosomal alpha-mannosidase isoform 1 precursor ORF Sequence $999.00
NM_001173498, 291045219 NP_001166969, 291045220 lysosomal alpha-mannosidase isoform 2 precursor ORF Sequence $1500.00
XM_005259913, 530414861 XP_005259970, 530414862 lysosomal alpha-mannosidase isoform X1 ORF Sequence $1500.00
KEGG
hsa00511Other glycan degradation
hsa04142Lysosome
Homo sapiens (human)MAN2B1NP_000519.2
Pan troglodytes (chimpanzee)MAN2B1XP_003316198.2
Macaca mulatta (Rhesus monkey)LOC716173XP_002801133.1
Canis lupus familiaris (dog)MAN2B1XP_005632890.1
Bos taurus (cattle)MAN2B1NP_776986.2
Mus musculus (house mouse)Man2b1NP_034894.2
Rattus norvegicus (Norway rat)Man2b1NP_955436.1
Danio rerio (zebrafish)man2b1NP_001014354.1
Drosophila melanogaster (fruit fly)LM408NP_609408.1
Caenorhabditis elegansaman-1NP_508811.1
Arabidopsis thaliana (thale cress)AT5G13980NP_196902.2
Xenopus (Silurana) tropicalis (western clawed frog)man2b1NP_001072469.1
Process
IDNameEvidence
GO:0006013mannose metabolic processIEA
GO:0006464cellular protein modification processIDA
GO:0006517protein deglycosylationTAS
Component
IDNameEvidence
GO:0005764lysosomeIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004559alpha-mannosidase activityIEA
GO:0008270zinc ion bindingIEA
GO:0030246carbohydrate bindingIEA
GeneCards MAN2B1
UniProt A8K6A7, O00754
Vega OTTHUMG00000156397
MIM 609458
Ensembl ENSG00000104774
HGNC 6826
HPRD 02007

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MAN2B1 gene?

The MAN2B1 gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose.

Interactant

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