MAN2C1
entrez
4123
canonical
uniprot
Q9NTJ4
canonical
ensembl
ENSG00000140400
resolver
ensp
ENSP00000267978
resolver
ensp
ENSP00000454589
resolver
ensp
ENSP00000455998
resolver
ensp
ENSP00000457788
resolver
genesymbol
MAN2C1
resolver
genesymbol_syn
MANA
resolver
genesymbol_syn
MANA1
resolver
hgnc
HGNC:6827
resolver
uniprot
A0A140VJN9
resolver
uniprot
H3BMX2
resolver
uniprot
H3BQY8
resolver
uniprot
H3BUT6
resolver
uniprot
Q13358
resolver
uniprot
Q68EM8
resolver
uniprot
Q9UL64
resolver
uniprot_entry
A0A140VJN9_HUMAN
resolver
uniprot_entry
MA2C1_HUMAN
resolver
uniprot_sec
H3BMX2
resolver
uniprot_sec
H3BQY8
resolver
uniprot_sec
H3BUT6
resolver
uniprot_sec
Q13358
resolver
uniprot_sec
Q68EM8
resolver
uniprot_sec
Q9UL64
resolver
activity_regulation
ACTIVITY REGULATION: Strongly inhibited by swainsonine. Also inhibited to a lesser extent by deoxymannojirimycin (DMM). {ECO:0000269|PubMed:16848760}.
uniprot
proteins
amino_acid_sequence
MAAAPALKHWRTTLERVEKFVSPLYFTDCNLRGRLFGASCPVAVLSSFLTPERLPYQEAVQRDFRPAQVGDSFGPTWWTCWFRVELTIPEAWVGQEVHLCWESDGEGLVWRDGEPVQGLTKEGEKTSYVLTDRLGERDPRSLTLYVEVACNGLLGAGKGSMIAAPDPEKMFQLSRAELAVFHRDVHMLLVDLELLLGIAKGLGKDNQRSFQALYTANQMVNVCDPAQPETFPVAQALASRFFGQHGGESQHTIHATGHCHIDTAWLWPFKETVRKCARSWVTALQLMERNPEFIFACSQAQQLEWVKSRYPGLYSRIQEFACRGQFVPVGGTWVEMDGNLPSGEAMVRQFLQGQNFFLQEFGKMCSEFWLPDTFGYSAQLPQIMHGCGIRRFLTQKLSWNLVNSFPHHTFFWEGLDGSRVLVHFPPGDSYGMQGSVEEVLKTVANNRDKGRANHSAFLFGFGDGGGGPTQTMLDRLKRLSNTDGLPRVQLSSPRQLFSALESDSEQLCTWVGELFLELHNGTYTTHAQIKKGNRECERILHDVELLSSLALARSAQFLYPAAQLQHLWRLLLLNQFHDVVTGSCIQMVAEEAMCHYEDIRSHGNTLLSAAAAALCAGEPGPEGLLIVNTLPWKRIEVMALPKPGGAHSLALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQETDGSVTLDNGIIRVKLDPTGRLTSLVLVASGREAIAEGAVGNQFVLFDDVPLYWDAWDVMDYHLETRKPVLGQAGTLAVGTEGGLRGSAWFLLQISPNSRLSQEVVLDVGCPYVRFHTEVHWHEAHKFLKVEFPARVRSSQATYEIQFGHLQRPTHYNTSWDWARFEVWAHRWMDLSEHGFGLALLNDCKYGASVRGSILSLSLLRAPKAPDATADTGRHEFTYALMPHKGSFQDAGVIQAAYSLNFPLLALPAPSPAPATSWSAFSVSSPAVVLETVKQAESSPQRRSLVLRLYEAHGSHVDCWLHLSLPVQEAILCDLLERPDPAGHLTLRDNRLKLTFSPFQVLSLLLVLQPPPH
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of deglycosylation 2 (CDDG2) [MIM:619775]: An 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. {ECO:0000269|PubMed:35045343}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.24
uniprot
proteins
function
FUNCTION: Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on cytoplasmic free oligosaccharides generated by N-glycoprotein degradation pathways. {ECO:0000269|PubMed:16848760}.
uniprot
proteins
mass_dalton
115835
uniprot
proteins
protein_family
Glycosyl hydrolase 38 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16848760
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
35045343
uniprot
proteins
sequence_length
1040
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16848760}.
uniprot
proteins