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    EXTL1 exostosin like glycosyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 2134, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EXTL1provided by HGNC
    Official Full Name
    exostosin like glycosyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:3515
    See related
    Ensembl:ENSG00000158008 MIM:601738; AllianceGenome:HGNC:3515
    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
    EXTL
    Summary
    This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 3.8), heart (RPKM 1.2) and 9 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p36.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26021775..26036464)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25859174..25873866)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26348266..26362955)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene platelet activating factor acetylhydrolase 2 Neighboring gene RNA, U6 small nuclear 110, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:26320062-26320573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 474 Neighboring gene small Cajal body-specific RNA 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26355537-26356402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26360876-26361606 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26361909-26362072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 478 Neighboring gene solute carrier family 30 member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26371640-26372208 Neighboring gene uncharacterized LOC105376910

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines. Mathysen D, et al. Eur J Cancer, 2004 May. PMID 15110891
    2. Hereditary multiple exostoses and heparan sulfate polymerization. Zak BM, et al. Biochim Biophys Acta, 2002 Dec 19. PMID 12417417
    3. Refined physical mapping and genomic structure of the EXTL1 gene. Wuyts W, et al. Cytogenet Cell Genet, 1999. PMID 10575224
    4. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Wise CA, et al. Genome Res, 1997 Jan. PMID 9037597
    5. Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis. Kim BT, et al. Proc Natl Acad Sci U S A, 2001 Jun 19. PMID 11390981, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC70794

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    exostosin-like 1
    Names
    alpha-N-acetylglucosaminyltransferase II
    exostoses (multiple)-like 1
    exostosin-L
    glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
    glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase
    multiple exostosis-like protein
    NP_004446.2
    XP_005245836.1
    XP_016856139.1
    XP_054191069.1
    XP_054191070.1

    NCBI Reference Sequences (RefSeq)

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    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_004455.3 → NP_004446.2  exostosin-like 1

      See identical proteins and their annotated locations for NP_004446.2

      Status: REVIEWED

      Source sequence(s)
      AL391650, BC065528, DA182373, R67266
      Consensus CDS
      CCDS271.1
      UniProtKB/Swiss-Prot
      Q6GSC1, Q92935
      Related
      ENSP00000363398.3, ENST00000374280.4
      Conserved Domains (2) summary
      pfam03016
      Location:92 → 335
      Exostosin; Exostosin family
      pfam09258
      Location:419 → 651
      Glyco_transf_64; Glycosyl transferase family 64 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      26021775..26036464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245779.5 → XP_005245836.1  exostosin-like 1 isoform X1

      Conserved Domains (2) summary
      pfam03016
      Location:92 → 291
      Exostosin; Exostosin family
      pfam09258
      Location:383 → 615
      Glyco_transf_64; Glycosyl transferase family 64 domain

    2. XM_017000650.3 → XP_016856139.1  exostosin-like 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      25859174..25873866
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335094.1 → XP_054191069.1  exostosin-like 1 isoform X1

    2. XM_054335095.1 → XP_054191070.1  exostosin-like 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92935.2 GenPept UniProtKB/Swiss-Prot:Q92935

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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