Human Gene MAN1A1 (uc003pym.2) Description and Page Index
Description: Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. RefSeq Summary (NM_005907): This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK025599.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000368468.4/ ENSP00000357453.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr6:119,498,366-119,670,931 Size: 172,566 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr6:119,500,984-119,670,230 Size: 169,247 Coding Exon Count: 12
ID:MA1A1_HUMAN DESCRIPTION: RecName: Full=Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA; EC=18.104.22.168; AltName: Full=Man(9)-alpha-mannosidase; Short=Man9-mannosidase; AltName: Full=Mannosidase alpha class 1A member 1; AltName: Full=Processing alpha-1,2-mannosidase IA; Short=Alpha-1,2-mannosidase IA; FUNCTION: Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2). CATALYTIC ACTIVITY: Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2). COFACTOR: Calcium. ENZYME REGULATION: Inhibited by both 1-deoxymannojirimycin and kifunensine. PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein. SIMILARITY: Belongs to the glycosyl hydrolase 47 family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): MAN1A1 CDC HuGE Published Literature: MAN1A1 Positive Disease Associations: Basophils
, Glucose Related Studies:
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 P33908
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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.
R-HSA-964737 Progressive trimming of alpha-1,2-linked mannose residues from Man9GlcNAc2 to produce Man5GlcNAc2 R-HSA-964825 Progressive trimming of alpha-1,2-linked mannose residues from Man8GlcNAc2 to produce Man5GlcNAc2 R-HSA-964830 Progressive trimming of alpha-1,2-linked mannose residues from Man7GlcNAc2 to produce Man5GlcNAc2 R-HSA-8847544 The COG complex and CUX1 and GOLGA5 dimers contribute to intra-Golgi vesicle tethering R-HSA-6811438 Intra-Golgi traffic R-HSA-964827 Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-964739 N-glycan trimming and elongation in the cis-Golgi R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins