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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
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
    CATEGORY
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    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
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    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
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    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 , CDG2T
    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