U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous