Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ALG3 contributors: npt/mct - updated : 11-09-2009
HGNC name asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)
HGNC id 23056
Corresponding disease
CDG1D congenital disorder of glycosylation, type 1D
Location 3q27.1      Physical location : 183.960.116 - 183.967.313
Synonym name
  • carbohydrate deficient glycoprotein syndrome type IV
  • asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)
  • Dol-P-Man dependent alpha(1-3)-mannosyltransferase
  • Not56-like protein
    • Synonym symbol(s) CDGS4, Not56, NOT56L, D16Ertd36e, D16Ertd36e, NOT
    EC.number 2.4.1.130
    DNA
    TYPE functioning gene
    STRUCTURE 7.18 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1550 50 438 - Denecke, Korner (1999)
    encodes the longest isoform
    - - 1500 - 403 - Denecke
  • lacks a segment in the coding region
  • contains a shorter and distinct N-terminus
  • supressed, mutant allele encoding a truncated protein associated with CDGID
    • - - 1863 - 398 - Denecke
  • differs in the 5' UTR and the 5' coding region
  • contains a distinct N-terminus
  • no describe protein
    • 9 - 1623 44 390 - Denecke, Korner (1999)
  • differs in the 5' UTR and the 5' coding region
  • contains a distinct N-terminus
  • no discribe protein
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Reproductivefemale systemuteruscervix  
     female systemovary   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • multiple membrane-spanning helices
  • a C-terminal (KKXX) endoplasmic reticulum retrieval signal
    • HOMOLOGY
    interspecies ortholog to S.cerevisiae alg3
    ortholog to murine Alg3
    ortholog to rattus alg3_predicted
    Homologene
    FAMILY
  • ALG3 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • catalysing the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    glycosylation
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG1D
    related resource Congenital Disorder of Glycosylation pages
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS