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FLASH GENE
Symbol GALNT8 contributors: - updated : 10-06-2011
HGNC name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)
HGNC id 4130
Location 12p13.3      Physical location : 4.829.751 - 4.881.892
Synonym name GalNac transferase 8
Synonym symbol(s) GALNAC-T8
EC.number 2.4.1.41
DNA
TYPE functioning gene
STRUCTURE 52.00 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map see FGF6
Physical map
LOC387825 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein NET-5 12p13.33 transmembrane 4 superfamily member tetraspan NET-5 PP1057 12p13.3 hypothetical protein PP1057 LOC390280 12 similar to RIKEN cDNA 1110014F12 HRMT1L3 12p13.3 HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae) MGC4266 12p13.33 hypothetical protein MGC4266 C12orf6 12p13.3 chromosome 12 open reading frame 6 LOC160382 12p13.32 similar to Heat shock cognate 71 kDa protein LOC390281 12 similar to ribosomal protein L18; 60S ribosomal protein L18 CCND2 12p13.32 cyclin D2 C12orf5 12p13.3 chromosome 12 open reading frame 5 FGF23 12p13.3 fibroblast growth factor 23 FGF6 12p13.32 fibroblast growth factor 6 C12orf4 12p13.3 chromosome 12 open reading frame 4 PIR51 12p13.2-p13.1 chromosome 12 open reading frame 4 DYRK4 12p13.3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 AKAP3 12p13 a kinase (PRKA) anchor protein 3 NDUFA9 12p13.3-p12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa GALNT8 12p13.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) KCNA6 12p13 potassium voltage-gated channel, shaker-related subfamily, member 6 KCNA1 12p13.32 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) LOC390282 12 similar to eukaryotic translation initiation factor 3, subunit 5 (epsilon) KCNA5 12p13.32-p13.31 potassium voltage-gated channel, shaker-related subfamily, member 5 LOC387826 12 LOC387826 NTF3 12p13.31 neurotrophin 3 TMEM16B 12p13.3 transmembrane protein 16B VWF 12p13.1 von Willebrand factor CD9 12p13.31 CD9 antigen (p24) FLJ10665 12p13.32 hypothetical protein FLJ10665 TNFRSF1A 12p13.2 tumor necrosis factor receptor superfamily, member 1A SCNN1A 12p13.3 sodium channel, nonvoltage-gated 1 alpha LTBR 12p13.31 lymphotoxin beta receptor (TNFR superfamily, member 3) LOC390283 12 hypothetical gene supported by X15940; NM_000993 LOC390284 12 similar to signal recognition particle 14kDa (homologous Alu RNA binding protein); signal recognition particle 14kD (homologous Alu RNA-binding protein); signal recognition particle 14kD (homologous Alu RNA binding protein) TNFRSF7 12p13 tumor necrosis factor receptor superfamily, member 7 TAPBP-R 12p13.31 TAP binding protein related VAMP1 12p13.31-p13.2 vesicle-associated membrane protein 1 (synaptobrevin 1)
regionally located located in the region of autosomal dominant hypophosphalimic rickets
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 5000 - - - White
11 - 2135 71.3 637 widely 2010 20977886
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
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 containing a GT1 motif and Ga1/Ga1 NAc transferase motif
  • a C terminal ricin/lectin-like domain, including a QXW lectin repeat
  • HOMOLOGY
    Homologene
    FAMILY GALNAc-transferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • catalyzing the initial reaction in O-linked (mucin type) oligosaccharide biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • calcium Ca2+
  • manganese Mn2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS