Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol EXTL3 contributors: mct - updated : 18-02-2014
HGNC name exostoses (multiple)-like 3
HGNC id 3518
Corresponding disease
NISDS neuro-immuno-skeletal dysplasia syndrome
Location 8p21.1      Physical location : 28.559.152 - 28.611.202
Genatlas name see TSG8D
Synonym name
  • exostosin-like 3
  • glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  • putative tumor suppressor protein EXTL3
  • hereditary multiple exostoses gene isolog
  • Synonym symbol(s) EXTR1, REG, RPR, KIAA0519, botv, EXTL1L, DKFZp686C2342
    EC.number 2.4.1.223
    DNA
    TYPE functioning gene
    STRUCTURE 52.22 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D8S136 - [D8S137 , TSG8D , D8S1161 ] - EXTL3 - D8S339 - cen
    Authors Van Hul (98)
    Physical map
    LOC286129 8p21.1 similar to chromosome 15 open reading frame 2 STMN4 8P21.1 stathmin-like 4 TRIM35 8p21.1 tripartite motif-containing 35 PTK2B 8p21.1 PTK2B protein tyrosine kinase 2 beta CHRNA2 8p21 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) EPHX2 8p21-p12 epoxide hydrolase 2, cytoplasmic GULOP 8p21.1 gulonolactone (L-) oxidase pseudogene CLU 8p21.3-p12 clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J) SCARA3 8p21 scavenger receptor class A, member 3 FLJ10853 8p21.1 hypothetical protein FLJ10853 LOC157570 8p21.1 hypothetical protein LOC157570 TOPK 8p21.2 hypothetical protein LOC157570 MGC45780 8p21.1 hypothetical protein MGC45780 LOC389643 8 hypothetical gene supported by AK129923 ELP3 8p21.1 elongation protein 3 homolog (S. cerevisiae) LOC389644 8 similar to 60S ribosomal protein L5 LOC346848 8p21.1 similar to 60S RIBOSOMAL PROTEIN L5 PNOC 8p21 prepronociceptin DKFZp434K1210 8p21.1 hypothetical protein DKFZp434K1210 PBF 8p21.1 papillomavirus regulatory factor PRF-1 FBXO16 8p21.1 F-box only protein 16 FZD3 8p21 frizzled homolog 3 (Drosophila) EXTL3 8p21 exostoses (multiple)-like 3 FLJ10871 8p21.1 hypothetical protein FLJ10871 FLJ21616 8p21.1 hypothetical protein FLJ21616 KIF13B 8p21-p12 kinesin family member 13B DUSP4 8p12-p11 dual specificity phosphatase 4 LOC392208 8 similar to Ac2-210 LOC389645 8 LOC389645 MAP2K1P1 8p21 mitogen-activated protein kinase kinase 1 pseudogene 1 MGC8721 8p12 hypothetical protein MGC8721 LEPROTL1 8p21.2-p21.1 leptin receptor overlapping transcript-like 1 DCTN6 8p12-p11 dynactin 6 LOC392209 8 similar to heat shock protein (hsp-2) LOC92755 8p21.1 hypothetical gene LOC92755 RBPMS 8p12-p11 RNA binding protein with multiple splicing
    RNA
    TRANSCRIPTS type messenger
    text it is uncertain whether met1, met6 or met20 is the initiator
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 6351 104.7 919 predominant in brain, skeletal muscle and testis Saito, Kim (2002)
    larger transcript
    - - 4700 - - predominant in heart, liver, thymus and prostate Saito
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin   highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • alpha 1,4-N acetylglucosaminyltransferase 1 and 2 activities DXD motif common to the most glycosyltransferase
  • HOMOLOGY
    interspecies homolog to murine Extl3
    homolog to C.elegans k01g5.6
    intraspecies paralog to EXTL1,EXTL3,EXT1,EXT2
    Homologene
    FAMILY
  • EXT1 and EXT2-related protein family
  • exostosin (EXT) family of glycosyltransferases
  • CATEGORY enzyme , tumor suppressor , receptor membrane
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • type II membrane protein
  • REG1A colocalizes with exostosin tumor-like 3 (EXTL3), its putative receptor, at the membrane of these cells
  • basic FUNCTION
  • alpha 1,4-N acetylglucosaminyltransferase involved in chain initiation and elongation of heparan sulfate
  • receptor for REG protein and mediating a growth signal of REG protein for beta cell regeneration
  • playing an essential role in the biosynthesis of heparan sulfate and heparin
  • regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis
  • plays an important role at the thymic stage of T cell development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • REG1A regulates neurite outgrowth, suggesting that this effect is mediated by its receptor EXTL3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NISDS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    gastrointestinal (GI) malignancies including colorectal cancer
    tumoral     --low  
    EXTL3 promoter methylation and its related loss of EXTL3 expression are involved in the loss of heparan sulfate expression in mucinous colorectal cancer
    Susceptibility breast cancer
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolismmucopolysaccharide 
    gene silencing of EXTL2 and EXTL3 are a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
    ANIMAL & CELL MODELS