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FLASH GENE
Symbol GMPPA contributors: mct - updated : 23-11-2013
HGNC name GDP-mannose pyrophosphorylase A
HGNC id 22923
Corresponding disease
AAMR Alacrima, achalasia, and mental retardation syndrome
Location 2q36.1      Physical location : 220.363.586 - 220.371.717
Synonym name
  • mannose-1-phosphate guanylyltransferase (GDP)
  • hypothetical protein tmp_locus_11
  • EC.number 2.7.7.22/ 2.7.7.13
    DNA
    TYPE functioning gene
    STRUCTURE 8.13 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MGC35338 2q36.1 hypothetical protein MGC35338 IHH 2q35-q36 Indian hedgehog homolog (Drosophila) FLJ12610 2q36.1 hypothetical protein FLJ12610 SLC23A3 2q36.1 solute carrier family 23 (nucleobase transporters), member 3 CGI-57 2q36.1 hypothetical protein CGI-57 MGC3035 LOC130617 2q36.1 hypothetical protein BC018415 ABCB6 2q33-q36 ATP-binding cassette, sub-family B (MDR/TAP), member 6 FLJ22169 2q36.1 hypothetical protein FLJ22169 FLJ10415 2q36.1 hypothetical protein FLJ10415 MGC10771 STK16 2q34-q37 serine/threonine kinase 16 TUBA1 2q36.1 tubulin, alpha 1 (testis specific) TUBA4 2q36.2 tubulin, alpha 4 DNAJB2 2q32-q34 DnaJ (Hsp40) homolog, subfamily B, member 2 PTPRN 2q35-q36.1 protein tyrosine phosphatase, receptor type, N LOC389075 2 similar to REGULATED ENDOCRINE SPECIFIC PROTEIN 18 PRECURSOR DNPEP 2q36.3 aspartyl aminopeptidase DES 2q35 desmin APEG1 2q34 desmin LOC389076 2 similar to CAVP-target protein (CAVPT) GMPPA 2q36.1 GDP-mannose pyrophosphorylase A ACCN4 2q36.1 amiloride-sensitive cation channel 4, pituitary CHPF 2q36.1 chondroitin polymerizing factor LOC130612 2q36.1 similar to RIKEN cDNA A230078I05 gene KIAA0657 2q36.1 similar to RIKEN cDNA A230078I05 gene INHA 2q33-q34 inhibin, alpha STK11IP 2q36 serine/threonine kinase 11 interacting protein SLC4A3 2q36 solute carrier family 4, anion exchanger, member 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1564 46 420 - 2013 24035193
    13 - 1845 46 420 - 2013 24035193
  • differs in the 5'UTR compared to variant 1
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Reproductivefemale systembreastmammary gland  
     male systemprostate   
    cell lineage
    cell lines
    fluid/secretion blood, lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nucleotidyltransferase domain (AAs 319) shared by a wide range of enzymes that transfer nucleotides onto phosphosugars
  • a hexapep domain (amino acids 286319 likewise found in several members of the transferase families
  • HOMOLOGY
    interspecies homolog to murine Gmppa (97.6pc)
    homolog to rattus Gmppa (96.7pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION catalyzing the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    GTP binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AAMR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS