Human Gene MAN2A1 (ENST00000261483.5) from GENCODE V44
Description: Homo sapiens mannosidase alpha class 2A member 1 (MAN2A1), mRNA. (from RefSeq NM_002372) RefSeq Summary (NM_002372): This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000261483.5 Gencode Gene: ENSG00000112893.10 Transcript (Including UTRs) Position: hg38 chr5:109,689,927-109,869,625 Size: 179,699 Total Exon Count: 22 Strand: + Coding Region Position: hg38 chr5:109,690,418-109,866,998 Size: 176,581 Coding Exon Count: 22
ID:MA2A1_HUMAN DESCRIPTION: RecName: Full=Alpha-mannosidase 2; EC=3.2.1.114; AltName: Full=Golgi alpha-mannosidase II; Short=AMan II; Short=Man II; AltName: Full=Mannosidase alpha class 2A member 1; AltName: Full=Mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase; FUNCTION: Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway. CATALYTIC ACTIVITY: Hydrolysis of the terminal (1->3)- and (1->6)- linked alpha-D-mannose residues in the mannosyl-oligosaccharide Man(5)(GlcNAc)(3). COFACTOR: Binds 1 zinc ion per subunit (By similarity). PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Homodimer; disulfide-linked (By similarity). SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). SIMILARITY: Belongs to the glycosyl hydrolase 38 family.
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 Q16706
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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.
Protein Q16706 (Reactome details) participates in the following event(s):
R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering R-HSA-975814 Trimming of mannoses on the alpha1,6 arm by MAN2A1 R-HSA-6811438 Intra-Golgi traffic R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-975578 Reactions specific to the complex N-glycan synthesis pathway R-HSA-199991 Membrane Trafficking R-HSA-975576 N-glycan antennae elongation in the medial/trans-Golgi R-HSA-5653656 Vesicle-mediated transport R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
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