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    EXTL3 exostosin like glycosyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 2137, updated on 15-Jun-2019

    Summary

    Official Symbol
    EXTL3provided by HGNC
    Official Full Name
    exostosin like glycosyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:3518
    See related
    Ensembl:ENSG00000012232 MIM:605744
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RPR; BOTV; REGR; EXTR1; ISDNA; EXTL1L
    Summary
    This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in heart (RPKM 14.3), brain (RPKM 13.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See EXTL3 in Genome Data Viewer
    Location:
    8p21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (28607736..28753690)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (28558990..28611207)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1329 Neighboring gene RNA, 5S ribosomal pseudogene 259 Neighboring gene frizzled class receptor 3 Neighboring gene EXTL3 antisense RNA 1 Neighboring gene integrator complex subunit 9 Neighboring gene ribosomal protein L36a pseudogene 32 Neighboring gene homeobox containing 1 Neighboring gene uncharacterized LOC105379346

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Immunoskeletal dysplasia with neurodevelopmental abnormalities
    MedGen: C4479452 OMIM: 617425 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with EXTL3; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ42628, KIAA0519, DKFZp686C2342

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity, transferring glycosyl groups IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transferase activity, transferring glycosyl groups IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    glycosaminoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heparan sulfate proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparan sulfate proteoglycan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    exostosin-like 3
    Names
    EXT-related 1
    epididymis secretory sperm binding protein
    exostoses (multiple)-like 3
    exostosin tumor-like 3
    glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    hereditary multiple exostoses gene isolog
    putative tumor suppressor protein EXTL3
    reg receptor
    NP_001431.1
    XP_011542742.1
    XP_024302862.1
    XP_024302863.1
    XP_024302864.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001440.4NP_001431.1  exostosin-like 3

      See identical proteins and their annotated locations for NP_001431.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      AB011091, AC131969, AW105691, DA757362
      Consensus CDS
      CCDS6070.1
      UniProtKB/Swiss-Prot
      O43909
      Related
      ENSP00000220562.4, ENST00000220562.8
      Conserved Domains (3) summary
      pfam03016
      Location:190500
      Exostosin; Exostosin family
      pfam07926
      Location:71150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663900
      Glyco_transf_64; Glycosyl transferase family 64 domain

    RNA

    1. NR_073468.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AB011091, AW105691, DA222815, DA757362
    2. NR_073469.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AF029231, AW105691, BI911162, DA757362

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      28607736..28755599
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447096.1XP_024302864.1  exostosin-like 3 isoform X1

      Conserved Domains (3) summary
      pfam03016
      Location:190500
      Exostosin; Exostosin family
      pfam07926
      Location:71150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663900
      Glyco_transf_64; Glycosyl transferase family 64 domain
    2. XM_024447094.1XP_024302862.1  exostosin-like 3 isoform X1

      Conserved Domains (3) summary
      pfam03016
      Location:190500
      Exostosin; Exostosin family
      pfam07926
      Location:71150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663900
      Glyco_transf_64; Glycosyl transferase family 64 domain
    3. XM_024447095.1XP_024302863.1  exostosin-like 3 isoform X1

      Conserved Domains (3) summary
      pfam03016
      Location:190500
      Exostosin; Exostosin family
      pfam07926
      Location:71150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663900
      Glyco_transf_64; Glycosyl transferase family 64 domain
    4. XM_011544440.3XP_011542742.1  exostosin-like 3 isoform X1

      See identical proteins and their annotated locations for XP_011542742.1

      UniProtKB/Swiss-Prot
      O43909
      Conserved Domains (3) summary
      pfam03016
      Location:190500
      Exostosin; Exostosin family
      pfam07926
      Location:71150
      TPR_MLP1_2; TPR/MLP1/MLP2-like protein
      pfam09258
      Location:663900
      Glyco_transf_64; Glycosyl transferase family 64 domain
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