MAN1B1
entrez
11253
canonical
uniprot
Q9UKM7
canonical
ensembl
ENSG00000177239
resolver
ensp
ENSP00000360645
resolver
ensp
ENSP00000441398
resolver
enst
ENST00000371589
resolver
enst
ENST00000535144
resolver
genesymbol
MAN1B1
resolver
hgnc
HGNC:6823
resolver
uniprot
H0YG20
resolver
uniprot
Q5VSG3
resolver
uniprot
Q9BRS9
resolver
uniprot
Q9Y5K7
resolver
uniprot_entry
H0YG20_HUMAN
resolver
uniprot_entry
MA1B1_HUMAN
resolver
uniprot_sec
Q5VSG3
resolver
uniprot_sec
Q9BRS9
resolver
uniprot_sec
Q9Y5K7
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by both 1-deoxymannojirimycin (dMNJ) and kifunensine. {ECO:0000269|PubMed:10409699}.
uniprot
proteins
amino_acid_sequence
MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENYDNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLFYINLADHWKALAFRLEEEQKMRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRHIQRGPPHLQIRPPSQDLKDGTQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQGTELPSRRAEVPTKPPLPPARTQGTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWILGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGNRLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSDSTVAEVTSIQLEFRELSRLTGDKKFQEAVEKVTQHIHGLSGKKDGLVPMFINTHSGLFTHLGVFTLGARADSYYEYLLKQWIQGGKQETQLLEDYVEAIEGVRTHLLRHSEPSKLTFVGELAHGRFSAKMDHLVCFLPGTLALGVYHGLPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPETVESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFFLGETLKYLFLLFSDDPNLLSLDAYVFNTEAHPLPIWTPA
uniprot
proteins
disease_involvement
DISEASE: Rafiq syndrome (RAFQS) [MIM:614202]: An autosomal recessive disorder characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia. The facial dysmorphism comprises prominent eyebrows with lateral thinning, downward-slanting palpebral fissures, bulbous tip of the nose, large ears, and a thin upper lip. Behavioral problems, including overeating, verbal and physical aggression, have been reported in some cases. Serum transferrin isoelectric focusing shows a type 2 pattern. {ECO:0000269|PubMed:21763484}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.113
uniprot
proteins
function
FUNCTION: Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2). {ECO:0000269|PubMed:12090241, ECO:0000269|PubMed:18003979}.
uniprot
proteins
mass_dalton
79580
uniprot
proteins
mutagenesis
MUTAGEN 330; /note="E->Q: About 44-fold reduction in K(cat), slight reduction in K(m), about 100-fold increase in binding affinity for Man(9)GlcnAc(2) but no change in binding affinity for the inhibitor, dMNJ. Even further greater reduction in K(cat) and increase in K(m); when associated with Q-599."; /evidence="ECO:0000269|PubMed:15713668"; MUTAGEN 463; /note="D->N: Some reduction in K(cat) but no change in K(m), abolishes almost all binding to Man(9)GlcnAc(2) but reduced binding to the inhibitor dMNJ by about 73-fold. Further reduction in K(m) but slight increase in K(m); when associated with Q-599."; /evidence="ECO:0000269|PubMed:15713668"; MUTAGEN 524; /note="H->A: About 4-fold reduction in K(cat)."; /evidence="ECO:0000269|PubMed:15713668"; MUTAGEN 599; /note="E->Q: Very significant reduction in K(cat), 4-fold weaker binding affinity for Man(9)GlcnAc(2) but about 1000-fold reduction in binding affinity for the inhibitor, dMNJ. Significant reductions in K(cat) and slight increase in K(m); when associated with E-330 or N-463."; /evidence="ECO:0000269|PubMed:15713668
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000250|UniProtKB:P32906}.
uniprot
proteins
protein_family
Glycosyl hydrolase 47 family
uniprot
proteins
pubmed
10409699
uniprot
proteins
pubmed
10521544
uniprot
proteins
pubmed
10995765
uniprot
proteins
pubmed
12090241
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15713668
uniprot
proteins
pubmed
18003979
uniprot
proteins
pubmed
21763484
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
699
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10409699}; Single-pass type II membrane protein {ECO:0000269|PubMed:10409699}.
uniprot
proteins
transmembrane_region
TRANSMEM 85..105; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins