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FLASH GENE
Symbol SLC35A3 contributors: mct - updated : 09-04-2014
HGNC name solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
HGNC id 11023
Corresponding disease
AMRS arthrogryposis, mental retardation, and seizures
Location 1p21.2      Physical location : 100.435.539 - 100.489.006
Synonym symbol(s) GCNTRP, NGT, AMRS
DNA
TYPE functioning gene
STRUCTURE 58.02 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
PTBP2 1p22.11-p21.3 polypyrimidine tract binding protein 2 DPYD 1p22 dihydropyrimidine dehydrogenase SNX7 1p21.2 sorting nexin 7 LOC388653 1 LOC388653 LOC391058 1 similar to 60S ribosomal protein L5 PRG1 10q22.1 proteoglycan 1, secretory granule PALMD 1p22-p21 palmdelphin LOC391059 1 similar to Stromal cell derived factor receptor 2 AGL 1p21 amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) SLC35A3 1p21 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 HIAT1 1p21.3 hippocampus abundant transcript 1 DKFZp761A078 1p21.3 hypothetical protein DKFZp761A078 FLJ10287 1pter-q31.3 hypothetical protein FLJ10287 MGC14816 1p21.3 hypothetical protein MGC14816 DBT 1p31 dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease) RTCD1 1p21.1 RTC domain containing 1 CDC14A 1p22 CDC14 cell division cycle 14 homolog A (S. cerevisiae) GPR88 1p21.3 G-protein coupled receptor 88 LOC391060 1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) LOC391061 1 similar to large subunit ribosomal protein L36a VCAM1 1p21 vascular cell adhesion molecule 1 EXTL2 1p12-p11 exostoses (multiple)-like 2 SLC30A7 1p21.2 solute carrier family 30 (zinc transporter), member 7 CGI-30 1p21.2 CGI-30 protein FLJ20139 1p21.2 hypothetical protein FLJ20139 EDG1 1p21 endothelial differentiation, sphingolipid G-protein-coupled receptor, 1 LOC391062 1 similar to peptidylprolyl isomerase A (cyclophilin A) LOC388654 1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) OLFM3 1p22-p21 olfactomedin 3 HEJ1 1p22 olfactomedin 3 COL11A1 1p21 collagen, type XI, alpha 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 5886 - 325 - 1999 10393322
6 - 5633 - 220 - 1999 10393322
7 - 5721 - 367 - 1999 10393322
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 liver   highly
Reproductivefemale systemuterus  highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to C.elegans c03h5.2
intraspecies homolog to UDP-GALand CMP-sialic acid transporter
Homologene
FAMILY
  • solute carrier family 35
  • nucleotide sugar transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • involved in nucleotide sugar transport in the Golgi apparatus
  • biological function of SLC35A2 and SLC35A3 in galactosylation of macromolecules may be coupled
  • SLC35A2 and SLC35A3 function in glycosylation is combined via their mutual interaction
  • regulates biosynthesis of highly branched N-glycans and keratan sulfate
  • major Golgi uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) transporter 9)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SLC35A2 and SLC35A3 cooperate in the UDP-Gal delivery for glycosyltransferases located in the Golgi apparatus
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMRS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS