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FLASH GENE
Symbol GALNT3 contributors: mct - updated : 03/10/2008
HGNC name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
HGNC id 4125
Corresponding disease
FTC1 familial tumoral calcinosis 1
Location 2q24.3      Physical location : 166.604.312 - 166.650.803
Synonym name
  • galactosamine:UDP-N-acetyl-alpha-D-polypeptide T3
  • polypeptide N-acetylgalactosaminyltransferase 3
  • protein-UDP acetylgalactosaminyltransferase
    • Synonym symbol(s) GalNAc-T3, HFTC, HHS, MGC61909, DKFZp686C10199
    EC.number 2.4.1.41
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 46.50 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    DPP4 2q24.3 dipeptidylpeptidase 4 (CD26, adenosine deaminase complexing protein 2) GCG 2q36-q37 glucagon FAP 2q23 fibroblast activation protein, alpha MDA5 2p24.3-q24.3 melanoma differentiation associated protein-5 GCA 2q24.3 grancalcin, EF-hand calcium binding protein KCNH7 2q24.3 potassium voltage-gated channel, subfamily H (eag-related), member 7 FIGN 2q24.2 fidgetin GRB14 2q22-q24 growth factor receptor-bound protein 14 KIAA0977 2q24.3 growth factor receptor-bound protein 14 FLJ39822 2q24.3 hypothetical protein FLJ39822 SCN3A 2q24.3 sodium channel, voltage-gated, type III, alpha SCN2A2 2q23-q24.3 sodium channel, voltage-gated, type II, alpha 2 TAIP-2 2q24.3 TGF-beta induced apotosis protein 2 GALNT3 2q24-q31 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) FLJ11457 2q31.1 hypothetical protein FLJ11457 SCN1A 2q24 sodium channel, voltage-gated, type I, alpha SCN9A 2q24 sodium channel, voltage-gated, type IX, alpha SCN7A 2q21-q23 sodium channel, voltage-gated, type VII, alpha CMYA3 2q31.1 cardiomyopathy associated 3 LOC90643 2q31.1 similar to Meningioma-expressed antigen 6/11 (MEA6) (MEA11) B3GALT1 2q24.3 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 STK39 2q24.3 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) LOC253782 2q31.1 hypothetical protein LOC253782 NOSTRIN 2q31.1 nitric oxide synthase trafficker AD024 IGRP 2q24-q31 nitric oxide synthase trafficker ABCB11 2q24.1 ATP-binding cassette, sub-family B (MDR/TAP), member 11 DHRS9 2q31.1 dehydrogenase/reductase (SDR family) member 9 LRP2 2q31-q32.1 low density lipoprotein-related protein 2 DKFZp762I194 2q31.1 hypothetical protein DKFZp762I194 SARCOSIN 2q31.1 hypothetical protein DKFZp762I194 FLJ21901 2q31 hypothetical protein FLJ21901
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3280 72.6 633 - 2007 17351710
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinelarge intestinecolon highly
     mouth   highly
    Reproductivefemale systemovary  highly Homo sapiens
     male systemtestis  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    Reproductivespermatozoa Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • near the N terminus, a stem region, a lumenal catalytic domain
  • a GT1 motif and Ga1/Ga1 NAc transferase motif
  • a C terminal ricin/lectin-like domain, including a QXW lectin repeat
    • HOMOLOGY
    interspecies ortholog to bovine galnt3
    Homologene
    FAMILY
  • glycosyltransferase 2 family
  • GalNAc-T subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • catalyzing the initial reaction in O-linked (mucin type) oligosaccharide biosynthesis
  • possessing substrate specificity for fibronectin (fetal and plasma)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Ca2+
  • Mn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FTC1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in pancreas non differentiated
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS