Q9NTJ4 · MA2C1_HUMAN
- ProteinAlpha-mannosidase 2C1
- GeneMAN2C1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1040 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on cytoplasmatic free oligosaccharides generated by N-glycoprotein degradation pathways.
Catalytic activity
Cofactor
Activity regulation
Strongly inhibited by swainsonine. Also inhibited to a lesser extent by deoxymannojirimycin (DMM).
Features
Showing features for binding site, active site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | nucleoplasm | |
Molecular Function | alpha-mannosidase activity | |
Molecular Function | carbohydrate binding | |
Molecular Function | metal ion binding | |
Biological Process | mannose metabolic process | |
Biological Process | oligosaccharide catabolic process |
Keywords
- Molecular function
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameAlpha-mannosidase 2C1
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NTJ4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Congenital disorder of deglycosylation 2 (CDDG2)
- Note
- DescriptionAn autosomal recessive disorder characterized by facial dysmorphism, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis.
- See alsoMIM:619775
Natural variants in CDDG2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_087012 | 203 | G>R | in CDDG2; uncertain significance; results in defective processing of free oligosaccharides as shown by complementation assay in MAN2C1-deficient cells; dbSNP:rs190692217 | |
VAR_087013 | 768 | R>Q | in CDDG2; uncertain significance; severely decreased mannosidase activity; results in defective processing of free oligosaccharides as shown by complementation assay in MAN2C1-deficient cells; dbSNP:rs62029711 | |
VAR_087014 | 871 | C>S | in CDDG2; uncertain significance; has no effect on processing of free oligosaccharides as shown by complementation assay in MAN2C1-deficient cells; dbSNP:rs143755898 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_087012 | 203 | in CDDG2; uncertain significance; results in defective processing of free oligosaccharides as shown by complementation assay in MAN2C1-deficient cells; dbSNP:rs190692217 | |||
Sequence: G → R | ||||||
Natural variant | VAR_069180 | 323 | in dbSNP:rs200595616 | |||
Sequence: R → C | ||||||
Natural variant | VAR_087013 | 768 | in CDDG2; uncertain significance; severely decreased mannosidase activity; results in defective processing of free oligosaccharides as shown by complementation assay in MAN2C1-deficient cells; dbSNP:rs62029711 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_061192 | 818 | in dbSNP:rs58557444 | |||
Sequence: R → H | ||||||
Natural variant | VAR_087014 | 871 | in CDDG2; uncertain significance; has no effect on processing of free oligosaccharides as shown by complementation assay in MAN2C1-deficient cells; dbSNP:rs143755898 | |||
Sequence: C → S | ||||||
Natural variant | VAR_049211 | 950 | in dbSNP:rs3803467 | |||
Sequence: V → M | ||||||
Natural variant | VAR_021914 | 960 | in dbSNP:rs3803466 | |||
Sequence: V → I | ||||||
Natural variant | VAR_049212 | 975 | in dbSNP:rs5745934 | |||
Sequence: R → K |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,400 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000206907 | 1-1040 | UniProt | Alpha-mannosidase 2C1 | |||
Sequence: MAAAPALKHWRTTLERVEKFVSPLYFTDCNLRGRLFGASCPVAVLSSFLTPERLPYQEAVQRDFRPAQVGDSFGPTWWTCWFRVELTIPEAWVGQEVHLCWESDGEGLVWRDGEPVQGLTKEGEKTSYVLTDRLGERDPRSLTLYVEVACNGLLGAGKGSMIAAPDPEKMFQLSRAELAVFHRDVHMLLVDLELLLGIAKGLGKDNQRSFQALYTANQMVNVCDPAQPETFPVAQALASRFFGQHGGESQHTIHATGHCHIDTAWLWPFKETVRKCARSWVTALQLMERNPEFIFACSQAQQLEWVKSRYPGLYSRIQEFACRGQFVPVGGTWVEMDGNLPSGEAMVRQFLQGQNFFLQEFGKMCSEFWLPDTFGYSAQLPQIMHGCGIRRFLTQKLSWNLVNSFPHHTFFWEGLDGSRVLVHFPPGDSYGMQGSVEEVLKTVANNRDKGRANHSAFLFGFGDGGGGPTQTMLDRLKRLSNTDGLPRVQLSSPRQLFSALESDSEQLCTWVGELFLELHNGTYTTHAQIKKGNRECERILHDVELLSSLALARSAQFLYPAAQLQHLWRLLLLNQFHDVVTGSCIQMVAEEAMCHYEDIRSHGNTLLSAAAAALCAGEPGPEGLLIVNTLPWKRIEVMALPKPGGAHSLALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQETDGSVTLDNGIIRVKLDPTGRLTSLVLVASGREAIAEGAVGNQFVLFDDVPLYWDAWDVMDYHLETRKPVLGQAGTLAVGTEGGLRGSAWFLLQISPNSRLSQEVVLDVGCPYVRFHTEVHWHEAHKFLKVEFPARVRSSQATYEIQFGHLQRPTHYNTSWDWARFEVWAHRWMDLSEHGFGLALLNDCKYGASVRGSILSLSLLRAPKAPDATADTGRHEFTYALMPHKGSFQDAGVIQAAYSLNFPLLALPAPSPAPATSWSAFSVSSPAVVLETVKQAESSPQRRSLVLRLYEAHGSHVDCWLHLSLPVQEAILCDLLERPDPAGHLTLRDNRLKLTFSPFQVLSLLLVLQPPPH | |||||||
Modified residue (large scale data) | 480 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Structure
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
Q9NTJ4-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,040
- Mass (Da)115,835
- Last updated2000-10-01 v1
- Checksum2B40AE6E03AC1E3C
Q9NTJ4-2
- Name2
- Differences from canonical
- 913-935: Missing
Q9NTJ4-3
- Name3
- Differences from canonical
- 201-299: Missing
Q9NTJ4-4
- Name4
- Differences from canonical
- 650-682: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSAQHGLCSCSSPHLTAAPAAPAACVRSARAPTDSASRPPPTK
Computationally mapped potential isoform sequences
There are 8 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 6 | in Ref. 1; AAC00190 | ||||
Sequence: A → F | ||||||
Sequence conflict | 14 | in Ref. 1; AAC00190 | ||||
Sequence: L → F | ||||||
Sequence conflict | 24 | in Ref. 1; AAC00190 | ||||
Sequence: L → I | ||||||
Sequence conflict | 170 | in Ref. 1; AAC00190 | ||||
Sequence: M → I | ||||||
Alternative sequence | VSP_046395 | 201-299 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_046895 | 650-682 | in isoform 4 | |||
Sequence: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSAQHGLCSCSSPHLTAAPAAPAACVRSARAPTDSASRPPPTK | ||||||
Alternative sequence | VSP_046375 | 913-935 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF044414 EMBL· GenBank· DDBJ | AAC00190.2 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AL136876 EMBL· GenBank· DDBJ | CAB66810.1 EMBL· GenBank· DDBJ | mRNA | ||
AK225145 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AC068338 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471136 EMBL· GenBank· DDBJ | EAW99253.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC050550 EMBL· GenBank· DDBJ | AAH50550.1 EMBL· GenBank· DDBJ | mRNA | ||
BC080191 EMBL· GenBank· DDBJ | AAH80191.1 EMBL· GenBank· DDBJ | mRNA | ||
U37248 EMBL· GenBank· DDBJ | AAC00568.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. |