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  • EXT1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

EXT1
Synonyms LGCR, LGS, ttv
Gene descriptioni

Full gene name according to HGNC.

Exostosin glycosyltransferase 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 8
Cytoband q24.11
Chromosome location (bp) 117794490 - 118111826
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

1
Ensembl ENSG00000182197 (version 103.38)
Entrez gene 2131
HGNC HGNC:3512
UniProt Q16394 (UniProt - Evidence at protein level)
neXtProt NX_Q16394
Antibodypedia EXT1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 8      # Population variants: 379

Antigens:

Off
On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

Off
On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
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ENSP00000367446
ENST00000378204
Q16394 [Direct mapping]
Exostosin-1
Show all
Enzymes
   ENZYME proteins
   Transferases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of glycan/glycoprotein metabolism
   Congenital malformations
   Congenital malformations of the musculoskeletal system
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139 [Golgi membrane]
GO:0000902 [cell morphogenesis]
GO:0001501 [skeletal system development]
GO:0001503 [ossification]
GO:0001958 [endochondral ossification]
GO:0001974 [blood vessel remodeling]
GO:0002062 [chondrocyte differentiation]
GO:0002067 [glandular epithelial cell differentiation]
GO:0002524 [hypersensitivity]
GO:0003128 [heart field specification]
GO:0003416 [endochondral bone growth]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005794 [Golgi apparatus]
GO:0006024 [glycosaminoglycan biosynthetic process]
GO:0006486 [protein glycosylation]
GO:0007033 [vacuole organization]
GO:0007155 [cell adhesion]
GO:0007165 [signal transduction]
GO:0007166 [cell surface receptor signaling pathway]
GO:0007224 [smoothened signaling pathway]
GO:0007369 [gastrulation]
GO:0007411 [axon guidance]
GO:0007420 [brain development]
GO:0007492 [endoderm development]
GO:0007498 [mesoderm development]
GO:0008217 [regulation of blood pressure]
GO:0008283 [cell population proliferation]
GO:0008375 [acetylglucosaminyltransferase activity]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0009615 [response to virus]
GO:0009642 [response to light intensity]
GO:0010467 [gene expression]
GO:0014033 [neural crest cell differentiation]
GO:0015012 [heparan sulfate proteoglycan biosynthetic process]
GO:0015014 [heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process]
GO:0015020 [glucuronosyltransferase activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016043 [cellular component organization]
GO:0016740 [transferase activity]
GO:0016757 [transferase activity, transferring glycosyl groups]
GO:0017145 [stem cell division]
GO:0019882 [antigen processing and presentation]
GO:0021554 [optic nerve development]
GO:0021772 [olfactory bulb development]
GO:0030163 [protein catabolic process]
GO:0030166 [proteoglycan biosynthetic process]
GO:0030176 [integral component of endoplasmic reticulum membrane]
GO:0030199 [collagen fibril organization]
GO:0030202 [heparin metabolic process]
GO:0030210 [heparin biosynthetic process]
GO:0030509 [BMP signaling pathway]
GO:0031175 [neuron projection development]
GO:0032836 [glomerular basement membrane development]
GO:0033627 [cell adhesion mediated by integrin]
GO:0033692 [cellular polysaccharide biosynthetic process]
GO:0035176 [social behavior]
GO:0035249 [synaptic transmission, glutamatergic]
GO:0035988 [chondrocyte proliferation]
GO:0036022 [limb joint morphogenesis]
GO:0036336 [dendritic cell migration]
GO:0036339 [lymphocyte adhesion to endothelial cell of high endothelial venule]
GO:0042044 [fluid transport]
GO:0042060 [wound healing]
GO:0042311 [vasodilation]
GO:0042328 [heparan sulfate N-acetylglucosaminyltransferase activity]
GO:0042596 [fear response]
GO:0042803 [protein homodimerization activity]
GO:0044344 [cellular response to fibroblast growth factor stimulus]
GO:0045165 [cell fate commitment]
GO:0045202 [synapse]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0050508 [glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity]
GO:0050509 [N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity]
GO:0050891 [multicellular organismal water homeostasis]
GO:0050901 [leukocyte tethering or rolling]
GO:0051923 [sulfation]
GO:0055078 [sodium ion homeostasis]
GO:0060047 [heart contraction]
GO:0060070 [canonical Wnt signaling pathway]
GO:0060218 [hematopoietic stem cell differentiation]
GO:0060349 [bone morphogenesis]
GO:0060350 [endochondral bone morphogenesis]
GO:0060351 [cartilage development involved in endochondral bone morphogenesis]
GO:0060429 [epithelium development]
GO:0060441 [epithelial tube branching involved in lung morphogenesis]
GO:0060485 [mesenchyme development]
GO:0060506 [smoothened signaling pathway involved in lung development]
GO:0060560 [developmental growth involved in morphogenesis]
GO:0061744 [motor behavior]
GO:0061974 [perichondral bone morphogenesis]
GO:0062094 [stomach development]
GO:0065003 [protein-containing complex assembly]
GO:0070593 [dendrite self-avoidance]
GO:0071503 [response to heparin]
GO:0071625 [vocalization behavior]
GO:0071711 [basement membrane organization]
GO:0071773 [cellular response to BMP stimulus]
GO:0072112 [glomerular visceral epithelial cell differentiation]
GO:0072498 [embryonic skeletal joint development]
GO:0097021 [lymphocyte migration into lymphoid organs]
GO:0098868 [bone growth]
GO:0120193 [tight junction organization]
GO:1901706 [mesenchymal cell differentiation involved in bone development]
GO:1904888 [cranial skeletal system development]
GO:1990823 [response to leukemia inhibitory factor]
Show all
746 aa
86.3 kDa
No 1

Contact

  • NEWS ARTICLES
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS

The Human Protein Atlas

  • DOWNLOADABLE DATA
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.