Human Gene EXTL1 (uc001blf.3)
  Description: Homo sapiens exostosin-like glycosyltransferase 1 (EXTL1), mRNA.
RefSeq Summary (NM_004455): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:26,348,271-26,362,954 Size: 14,684 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr1:26,349,138-26,361,838 Size: 12,701 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:26,348,271-26,362,954)mRNA (may differ from genome)Protein (676 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EXTL1_HUMAN
DESCRIPTION: RecName: Full=Exostosin-like 1; EC=2.4.1.224; AltName: Full=Exostosin-L; AltName: Full=Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; AltName: Full=Multiple exostosis-like protein;
FUNCTION: Probable glycosyltransferase (By similarity).
CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl- (1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity).
SIMILARITY: Belongs to the glycosyltransferase 47 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Exostosin-like 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_529";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EXTL1
Diseases sorted by gene-association score: hereditary multiple exostoses (13), exostosis (13), hereditary multiple osteochondromas (11), trichorhinophalangeal syndrome, type i (7), trichorhinophalangeal syndrome, type ii (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.88 RPKM in Brain - Cortex
Total median expression: 132.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -439.40867-0.507 Picture PostScript Text
3' UTR -531.761116-0.476 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004263 - Exostosin
IPR015338 - HexNAc_Trfase_a

Pfam Domains:
PF03016 - Exostosin family
PF09258 - Glycosyl transferase family 64 domain

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on Q92935
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

Biological Process:
GO:0001501 skeletal system development
GO:0006486 protein glycosylation
GO:0036498 IRE1-mediated unfolded protein response

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF206665 - JP 2014500723-A/14168: Polycomb-Associated Non-Coding RNAs.
U67191 - Human multiple exostosis-like protein (EXTL) mRNA, complete cds.
JD307531 - Sequence 288555 from Patent EP1572962.
JD074809 - Sequence 55833 from Patent EP1572962.
JD071647 - Sequence 52671 from Patent EP1572962.
JD218309 - Sequence 199333 from Patent EP1572962.
BC065528 - Homo sapiens exostoses (multiple)-like 1, mRNA (cDNA clone MGC:70794 IMAGE:6150218), complete cds.
JD056370 - Sequence 37394 from Patent EP1572962.
JD407823 - Sequence 388847 from Patent EP1572962.
LF211965 - JP 2014500723-A/19468: Polycomb-Associated Non-Coding RNAs.
JD043103 - Sequence 24127 from Patent EP1572962.
JD416570 - Sequence 397594 from Patent EP1572962.
JD158556 - Sequence 139580 from Patent EP1572962.
JD391842 - Sequence 372866 from Patent EP1572962.
JD045846 - Sequence 26870 from Patent EP1572962.
JD486931 - Sequence 467955 from Patent EP1572962.
JD077662 - Sequence 58686 from Patent EP1572962.
JD475226 - Sequence 456250 from Patent EP1572962.
JD234345 - Sequence 215369 from Patent EP1572962.
JD334619 - Sequence 315643 from Patent EP1572962.
JD483407 - Sequence 464431 from Patent EP1572962.
LF356990 - JP 2014500723-A/164493: Polycomb-Associated Non-Coding RNAs.
JD453471 - Sequence 434495 from Patent EP1572962.
JD278150 - Sequence 259174 from Patent EP1572962.
JD525523 - Sequence 506547 from Patent EP1572962.
JD118927 - Sequence 99951 from Patent EP1572962.
JD476903 - Sequence 457927 from Patent EP1572962.
JD387730 - Sequence 368754 from Patent EP1572962.
JD500379 - Sequence 481403 from Patent EP1572962.
JD459737 - Sequence 440761 from Patent EP1572962.
JD347187 - Sequence 328211 from Patent EP1572962.
JD142420 - Sequence 123444 from Patent EP1572962.
JD427510 - Sequence 408534 from Patent EP1572962.
JD167730 - Sequence 148754 from Patent EP1572962.
JD154904 - Sequence 135928 from Patent EP1572962.
MA442242 - JP 2018138019-A/14168: Polycomb-Associated Non-Coding RNAs.
MA447542 - JP 2018138019-A/19468: Polycomb-Associated Non-Coding RNAs.
MA592567 - JP 2018138019-A/164493: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00534 - Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6558 - heparan sulfate biosynthesis (late stages)
PWY-6564 - heparan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q92935 (Reactome details) participates in the following event(s):

R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: EXTL, EXTL1_HUMAN, NM_004455, NP_004446, Q6GSC1, Q92935
UCSC ID: uc001blf.3
RefSeq Accession: NM_004455
Protein: Q92935 (aka EXTL1_HUMAN or EXL1_HUMAN)
CCDS: CCDS271.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004455.2
exon count: 11CDS single in 3' UTR: no RNA size: 4021
ORF size: 2031CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3538.50frame shift in genome: no % Coverage: 99.83
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.