Human Gene MAN2B1 (ENST00000456935.7) from GENCODE V44
Description: Homo sapiens mannosidase alpha class 2B member 1 (MAN2B1), transcript variant 1, mRNA. (from RefSeq NM_000528) RefSeq Summary (NM_000528): 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]. Gencode Transcript: ENST00000456935.7 Gencode Gene: ENSG00000104774.13 Transcript (Including UTRs) Position: hg38 chr19:12,646,512-12,666,742 Size: 20,231 Total Exon Count: 24 Strand: - Coding Region Position: hg38 chr19:12,646,620-12,666,701 Size: 20,082 Coding Exon Count: 24
ID:MA2B1_HUMAN DESCRIPTION: RecName: Full=Lysosomal alpha-mannosidase; Short=Laman; EC=3.2.1.24; AltName: Full=Lysosomal acid alpha-mannosidase; AltName: Full=Mannosidase alpha class 2B member 1; AltName: Full=Mannosidase alpha-B; Contains: RecName: Full=Lysosomal alpha-mannosidase A peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase B peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase C peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase D peptide; Contains: RecName: Full=Lysosomal alpha-mannosidase E peptide; Flags: Precursor; FUNCTION: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. CATALYTIC ACTIVITY: Hydrolysis of terminal, non-reducing alpha-D- mannose residues in alpha-D-mannosides. COFACTOR: Binds 1 zinc ion per subunit (By similarity). SUBCELLULAR LOCATION: Lysosome. PTM: First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide- linked. PTM: Heavily glycosylated. DISEASE: Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM) [MIM:248500]. AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities. SIMILARITY: Belongs to the glycosyl hydrolase 38 family. SEQUENCE CAUTION: Sequence=AAB03816.1; Type=Erroneous initiation; Sequence=AAC50812.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAN2B1"; WEB RESOURCE: Name=Mendelian genes mannosidase, alpha, class 2B, member 1 (MAN2B1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/MAN2B1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00754
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006013 mannose metabolic process GO:0006464 cellular protein modification process GO:0006517 protein deglycosylation GO:0008152 metabolic process GO:0009313 oligosaccharide catabolic process GO:0043312 neutrophil degranulation
LF208198 - JP 2014500723-A/15701: Polycomb-Associated Non-Coding RNAs. MA443775 - JP 2018138019-A/15701: Polycomb-Associated Non-Coding RNAs. BC000736 - Homo sapiens mannosidase, alpha, class 2B, member 1, mRNA (cDNA clone MGC:2113 IMAGE:3504417), complete cds. AB209921 - Homo sapiens mRNA for mannosidase, alpha, class 2B, member 1 precursor variant protein. AK291572 - Homo sapiens cDNA FLJ76867 complete cds, highly similar to Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), mRNA. AK303418 - Homo sapiens cDNA FLJ54572 complete cds, highly similar to Lysosomal alpha-mannosidase precursor (EC 3.2.1.24). U05572 - Human lysosomal alpha-mannosidase (MANB) mRNA, complete cds. U60266 - Homo sapiens lysosomal alpha-mannosidase (manB) mRNA, complete cds. JD329009 - Sequence 310033 from Patent EP1572962. JD464618 - Sequence 445642 from Patent EP1572962. JD398895 - Sequence 379919 from Patent EP1572962. U68382 - Human lysosomal acid alpha-mannosidase (MANB) mRNA, alternatively spliced transcript, complete cds. U68567 - Human lysosomal acid alpha-mannosidase mRNA, complete cds. JD466361 - Sequence 447385 from Patent EP1572962. DQ891878 - Synthetic construct clone IMAGE:100004508; FLH180868.01X; RZPDo839G11134D mannosidase, alpha, class 2B, member 1 (MAN2B1) gene, encodes complete protein. DQ895066 - Synthetic construct Homo sapiens clone IMAGE:100009526; FLH180864.01L; RZPDo839G11133D mannosidase, alpha, class 2B, member 1 (MAN2B1) gene, encodes complete protein. AB527181 - Synthetic construct DNA, clone: pF1KB5675, Homo sapiens MAN2B1 gene for mannosidase, alpha, class 2B, member 1, without stop codon, in Flexi system. LF373421 - JP 2014500723-A/180924: Polycomb-Associated Non-Coding RNAs. MA608998 - JP 2018138019-A/180924: Polycomb-Associated Non-Coding RNAs. LF373419 - JP 2014500723-A/180922: Polycomb-Associated Non-Coding RNAs. MA608996 - JP 2018138019-A/180922: Polycomb-Associated Non-Coding RNAs. LF373416 - JP 2014500723-A/180919: Polycomb-Associated Non-Coding RNAs. MA608993 - JP 2018138019-A/180919: Polycomb-Associated Non-Coding RNAs. JD437159 - Sequence 418183 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00511 - Other glycan degradation hsa04142 - Lysosome
BioCarta from NCI Cancer Genome Anatomy Project h_aMANpathway - Steps in the Glycosylation of Mammalian N-linked Oligosaccarides h_eradPathway - ER¿associated degradation (ERAD) Pathway
Reactome (by CSHL, EBI, and GO)
Protein O00754 (Reactome details) participates in the following event(s):
US Server
