EXT1

GENERAL INFORMATION

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Gene name

EXT1

Gene description

Exostosin glycosyltransferase 1

Protein class

Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Moderate cytoplasmic and membranous positivity was observed in most normal tissues. Respiratory epithelia, intestinal glands, gall bladder, fallopian tube and non-germinal center cells were strongly stained. Glial cells, Purkinje cells and islets of Langerhans were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA044394
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

EXT1 (HGNC Symbol)

Synonyms

LGCR, LGS, ttv

Description

Exostosin glycosyltransferase 1 (HGNC Symbol)

Entrez gene summary

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]

Chromosome

8

Cytoband

q24.11

Chromosome location (bp)

117794490 - 118111853

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182197 (version 78.38)

Entrez gene

2131

UniProt

Q16394 (UniProt - Evidence at protein level)

neXtProt

NX_Q16394

Antibodypedia

EXT1 antibodies


PROTEIN BROWSER

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ENST00000378204
 
ENST00000436216
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EXT1-001 ENSP00000367446
ENST00000378204
Q16394
Show all »
Show » Show » 746 86.3 No 1
EXT1-003 ENSP00000400372
ENST00000436216
S5Y321
Show all »
Show » 207 23.5 No 0