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MGP004492

Record overview

MGPD IDMGP004492
Gene ID11253
SpeciesHomo sapiens (Human)
Gene Namemannosidase, alpha, class 1B, member 1
Gene Symbol MAN1B1
SynonymsMRT15; ERMAN1; MANA-ER;
Alternate namesendoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; ER alpha 1,2-mannosidase; Man9GlcNAc2-specific processing alpha-mannosidase; endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1;
Chromosome9
Map Location9q34
EC Number3.2.1.113
SummaryThis gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
OrthologsView orthologs and multiple alignments for MAN1B1

Proteins

endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Refseq ID:NP_057303
Protein GI:218749883
UniProt ID:Q9UKM7
mRNA ID:NM_016219
Length:699
RefSeq Status:
MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENYDNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLF
YINLADHWKALAFRLEEEQKMRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRHIQRGPPHLQIRPPSQDLKDGTQEEATKRQEAPVDPRPEGD
PQRTVISWRGAVIEPEQGTELPSRRAEVPTKPPLPPARTQGTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWI
LGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGNRLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSDSTVAEVTS
IQLEFRELSRLTGDKKFQEAVEKVTQHIHGLSGKKDGLVPMFINTHSGLFTHLGVFTLGARADSYYEYLLKQWIQGGKQETQLLEDYVEAIEGVRTHLLR
HSEPSKLTFVGELAHGRFSAKMDHLVCFLPGTLALGVYHGLPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPET
VESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFFLGETLKYLFLLFSDDPNLLSLDAYVFNTEAHPLPIWTPA
 
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