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FLASH GENE
Symbol MAN1B1 contributors: shn - updated : 08-01-2014
HGNC name mannosidase, alpha, class 1B, member 1
HGNC id 6823
Corresponding disease
CDG-II Congenital disorders of glycosylation II
MRT15 Mental retardation, autosomal recessive 15
Location 9q34.3      Physical location : 139.981.416 - 140.003.639
Synonym name
  • alpha 1,2-mannosidase
  • endoplasmic reticulum alpha-mannosidase 1
  • endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
  • ER alpha 1,2-mannosidase
  • Man9GlcNAc2-specific processing alpha-mannosidase
  • Synonym symbol(s) MANA-ER, ERMAN1, MRT15
    EC.number 3.2.1.113
    DNA
    TYPE functioning gene
    STRUCTURE 22.00 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D9S158 - D9S905 - MAN1B1 - D9S1838 - qter
    Physical map
    MGC20262 9q34.3 hypothetical protein MGC20262 MGC16037 9q34.3 hypothetical protein MGC16037 LCN6 9q34.3 lipocalin 6 LOC138307 LOC389812 LOC392401 9 similar to vacuolar H(+)-ATPase subunit; V-ATPase subunit; M16 MGC14141 9q34.3 hypothetical protein MGC14141 MGC15438 9q34.3 hypothetical protein MGC15438 FLJ10101 9q34.3 FLJ10101 protein LOC389813 9 similar to ENSANGP00000006371 PHP14 9q34.3 phosphohistidine phosphatase AEGP 9q34.3 apical early endosomal glycoprotein precursor EDF1 9q34.3 endothelial differentiation-related factor 1 TRAF2 9q34 TNF receptor-associated factor 2 FBXW5 9q34.3 F-box and WD-40 domain protein 5 C8G 9q22.33-q32 complement component 8, gamma polypeptide MGC48935 9q34.3 hypothetical protein MGC48935 LOC203235 9q34.3 hypothetical LOC203235 PTGDS 9q34.2-q34.3 prostaglandin D2 synthase 21kDa (brain) LOC286257 9q34.3 hypothetical protein LOC286257 CLIC3 9q34.3 chloride intracellular channel 3 ABCA2 9q34.3 ATP-binding cassette, sub-family A (ABC1), member 2 FUT7 9q34.3 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) LOC389814 9 similar to LPAL6438 NPDC1 9q34.3 neural proliferation, differentiation and control, 1 ENTPD2 9q34 ectonucleoside triphosphate diphosphohydrolase 2 LOC89958 9q34.3 hypothetical protein LOC89958 LOC91373 MAN1B1 9q34 mannosidase, alpha, class 1B, member 1 DPP7 9q34.3 dipeptidylpeptidase 7 LOC389815 9 LOC389815 GRIN1 9q34.3 glutamate receptor, ionotropic, N-methyl D-aspartate 1 LOC389816 9 similar to CDNA sequence BC004853 LOC389817 9 LOC389817 ANAPC2 9q34.3 LOC389817 SSNA1 9q34.3 Sjogren's syndrome nuclear autoantigen 1 C9orf75 9q34.3 chromosome 9 open reading frame 75 MGC14327 9q34.3 hypothetical protein MGC14327 NELF 9q34.3 nasal embryonic luteinizing hormone-releasing hormone factor FLJ43070 9q34.3 FLJ43070 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 2787 - 699 - -
    14 splicing 2918 - - - -
    non-coding RNA
    13 splicing 2762 - - - -
    non-coding RNA
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cytoplasmic tail
  • a putative transmembrane domain
  • HOMOLOGY
    interspecies ortholog to Man1B1, Rattus norvegicus
    ortholog to Man1B1, Mus musculus
    ortholog to man1b1, Danio rerio
    ortholog to MAN1B1, Pan troglodytes
    Homologene
    FAMILY glycosyl hydrolase 47 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • predominantly resides in the Golgi complex
  • a high level of colocalization with both the trans-Golgi marker GPP130 and the cis-Golgi marker giantin
  • basic FUNCTION
  • functions as a checkpoint for misfolded proteins escaping the ER, and as a lectin retrieving these proteins back to the ER prior to their degradation by the 26S proteasome
  • onverts Man9GlcNAc to Man8GlcNAc isomer B
  • plays a role in protein quality control at the level of the Golgi apparatus
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text N-glycan biosynthesis c
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    calcium
    protein
  • COP-I machinery
  • cell & other
    REGULATION
    inhibited by the class I alpha-mannosidase inhibitors 1-deoxymannojirimycin and kifunensine
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Man1B1, Rattus norvegicus
    ortholog to Man1B1, Mus musculus
    ortholog to man1b1, Danio rerio
    ortholog to MAN1B1, Pan troglodytes
    Homologene
    FAMILY glycosyl hydrolase 47 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • predominantly resides in the Golgi complex
  • a high level of colocalization with both the trans-Golgi marker GPP130 and the cis-Golgi marker giantin
  • basic FUNCTION involved in the maturation of ASN-linked oligosaccharides
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosylation pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    calcium
    protein
    cell & other
    REGULATION
    inhibited by the class I alpha-mannosidase inhibitors 1-deoxymannojirimycin and kifunensine
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Man1B1, Rattus norvegicus
    ortholog to Man1B1, Mus musculus
    ortholog to man1b1, Danio rerio
    ortholog to MAN1B1, Pan troglodytes
    Homologene
    FAMILY glycosyl hydrolase 47 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • predominantly resides in the Golgi complex
  • a high level of colocalization with both the trans-Golgi marker GPP130 and the cis-Golgi marker giantin
  • basic FUNCTION involved in the maturation of ASN-linked oligosaccharides
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosylation pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    calcium
    protein
    cell & other
    REGULATION
    inhibited by the class I alpha-mannosidase inhibitors 1-deoxymannojirimycin and kifunensine
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Man1B1, Rattus norvegicus
    ortholog to Man1B1, Mus musculus
    ortholog to man1b1, Danio rerio
    ortholog to MAN1B1, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • predominantly resides in the Golgi complex
  • a high level of colocalization with both the trans-Golgi marker GPP130 and the cis-Golgi marker giantin
  • basic FUNCTION catalyzing the first mannose-trimming step in ASN-linked oligosaccharide biosynthesis
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by the class I alpha-mannosidase inhibitors 1-deoxymannojirimycin and kifunensine
    ASSOCIATED DISORDERS
    corresponding disease(s) MRT15 , CDG-II
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • MAN1B1 deficient cells display an altered Golgi morphology, characterized by dilatation and fragmentation of the cisternae