Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GNS contributors: - updated : 06-12-2005
HGNC name glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID)
HGNC id 4422
Corresponding disease
MPS3D mucopolysaccharidosis, type IIID
Location 12q14      Physical location : 65.107.223 - 65.153.226
Synonym symbol(s) G6S
EC.number 3.1.6.14
DNA
TYPE functioning gene
STRUCTURE 43.00 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - D12S83 - D12S1086 - D12S334 - D12S1655 - D12S1834 - D12S1726 - (D12S1293 ,D12S1150E ,D12S1165E ) - D12S862 - D12S1437 - (D12S329 ,D12S2035 ) - D12S1230E - (D12S1022 ,D12S371 ) - D12S1831 - D12S1535 - D12S1232E - D12S1610 - D12S1548 - GNS - D12S1585 - (D12S1414 ,D12S1211E ,D12S1189E ) - D12S1649- D12S1426 - D12S1954 - D12S288 - D12S1461 - (D12S1601 ,D12S1464 ) - qter
Authors 4st Workshop chrom.12 (97)
Physical map
LOC144583 12q14.1 hypothetical gene supported by AK025388 USP15 12q14 ubiquitin specific protease 15 KIAA1040 12q14.1 KIAA1040 protein FLJ25590 12q14.1 hypothetical protein FLJ25590 ARHCL1 12q14.1 ras homolog gene family, member C like 1 LOC390337 12 similar to RIKEN cDNA A430075L18 gene LOC144581 12q14.1 similar to ribosomal protein L14; 60S ribosomal protein L14 LOC121498 12q14.1 similar to lactate dehydrogenase A -like AVPR1A 12q14 arginine vasopressin receptor 1A FLJ32949 12q14.1 hypothetical protein FLJ32949 LOC390338 12 similar to T-box transcription factor TBX20 TMEM5 12q14.1 transmembrane protein 5 LOC341315 12q14.1 similar to Polyadenylate-binding protein 1 (Poly(A)-binding protein 1) (PABP 1) SRGAP1 12q13.13 SLIT-ROBO Rho GTPase activating protein 1 FLJ32549 12q14.1 hypothetical protein FLJ32549 LOC115749 12q14.1 hypothetical protein LOC115749 LOC390339 12 similar to 40S ribosomal protein S11 XPOT 12q14 exportin, tRNA (nuclear export receptor for tRNAs) TBK1 13q14.2-q14.3 TANK-binding kinase 1 RASSF3 12q14.1 Ras association (RalGDS/AF-6) domain family 3 GNS 12q14 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) KIAA0984 12q13.13 glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) WIF1 12q13.13 WNT inhibitory factor 1 MAN1 12q14 WNT inhibitory factor 1 LOC253827 12q14.1 hypothetical protein LOC253827 LOC387865 12 LOC387865 LOC204010 12q14.2 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) HMGA2 12q14-q15 high mobility group AT-hook 2 LOC341321 12q14.2 similar to 60S ribosomal protein L21 MGC14817 12q14.2 hypothetical protein MGC14817 CGI-119 12q14.1-q15 CGI-119 protein IRAK3 12q13.13 interleukin-1 receptor-associated kinase 3 RBMS1P 12q14.2 RNA binding motif, single stranded interacting protein 1, pseudogene LOC387866 12 LOC387866 LOC390340 12 similar to IAP-associated factor VIAF1; phosducin-like 2 HELB 12q14.2 helicase (DNA) B GRIP1 12q14.1-q14.2 glutamate receptor interacting protein 1 HGT2 12q14.3 glutamate receptor interacting protein 1 TIP120A 12q14 glutamate receptor interacting protein 1
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Reproductivefemale systembreastmammary gland  
 female systemuterus   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Connectivebone   
Connectivecartilage   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticplatelet
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , tetramer
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
intracellular,cytoplasm,organelle,Golgi
intracellular,cytoplasm,organelle,endosome
intracellular,cytoplasm,organelle,lysosome
basic FUNCTION
  • N-acetyl-glucosamine-6-sulfate sulfatase, lysosomal, acting on hydrolasesulfate
  • catalyzing the third step of degradation of keratan sulfate (mucopolysaccharides)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS3D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS