Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P97464 (EXT1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Exostosin-1

EC=2.4.1.224
EC=2.4.1.225
Alternative name(s):
Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
Multiple exostoses protein 1 homolog
Gene names
Name:Ext1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length746 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone.

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.

UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

Pathway

Protein modification; protein glycosylation.

Subunit structure

Forms a homo/hetero-oligomeric complex with EXT2.

Subcellular location

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note: The EXT1/EXT2 complex is localized in the Golgi apparatus. Ref.4 Ref.5

Tissue specificity

Expressed in maturing chondrocytes.

Developmental stage

Initially expressed at 6.5 dpc, which coincides with gastrulation of the embryo. High level of expression in developing limb buds at 10.5 to 12.5 dpc. Ref.4

Sequence similarities

Belongs to the glycosyltransferase 47 family.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Golgi apparatus
Membrane
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaxon guidance

Inferred from mutant phenotype PubMed 14605369. Source: MGI

brain development

Inferred from mutant phenotype PubMed 14605369. Source: MGI

embryonic skeletal joint development

Inferred from mutant phenotype PubMed 21185280. Source: MGI

endoderm development

Inferred from mutant phenotype PubMed 10926768. Source: MGI

gastrulation

Inferred from mutant phenotype PubMed 10926768. Source: MGI

glycosaminoglycan biosynthetic process

Inferred from electronic annotation. Source: Ensembl

heparan sulfate proteoglycan biosynthetic process

Inferred from direct assay Ref.6. Source: UniProtKB

heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process

Inferred from electronic annotation. Source: Ensembl

mesoderm development

Inferred from mutant phenotype PubMed 10926768. Source: MGI

olfactory bulb development

Inferred from mutant phenotype PubMed 14605369. Source: MGI

ossification

Inferred from electronic annotation. Source: Ensembl

protein glycosylation

Inferred from electronic annotation. Source: UniProtKB-UniPathway

   Cellular_componentGolgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of endoplasmic reticulum membrane

Inferred from direct assay Ref.5. Source: UniProtKB

   Molecular_functionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

Inferred from direct assay Ref.6. Source: UniProtKB

glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity

Inferred from direct assay Ref.6. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 746746Exostosin-1
PRO_0000149649

Regions

Topological domain1 – 77Cytoplasmic Potential
Transmembrane8 – 2821Helical; Signal-anchor for type II membrane protein; Potential
Topological domain29 – 746718Lumenal Potential

Amino acid modifications

Glycosylation891N-linked (GlcNAc...) Potential
Glycosylation3301N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict161C → S in CAA65443. Ref.2
Sequence conflict60 – 612DA → EP in CAA65443. Ref.2
Sequence conflict2201S → T in CAA65443. Ref.2
Sequence conflict4861A → P in CAA65443. Ref.2
Sequence conflict5481Missing in CAA65443. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P97464 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 5AC7F24BECEEDFF9

FASTA74686,308
        10         20         30         40         50         60 
MQAKKRYFIL LSAGSCLALL FYFGGVQFRA SRSHSRREEH SGRNGLHQPS PDHFWPRFPD 

        70         80         90        100        110        120 
ALRPFFPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM ESCFDFTLCK KNGFKVYVYP 

       130        140        150        160        170        180 
QQKGEKIAES YQNILAAIEG SRFYTSDPSQ ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS 

       190        200        210        220        230        240 
LHLWNNGRNH LIFNLYSGTW PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD 

       250        260        270        280        290        300 
HPRTGGERGF LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVLLLTTCKH 

       310        320        330        340        350        360 
GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA LQAACVPVML 

       370        380        390        400        410        420 
SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK ILALRQQTQF LWEAYFSSVE 

       430        440        450        460        470        480 
KIVLTTLEII QDRIFKHISR NSLIWNKHPG GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF 

       490        500        510        520        530        540 
TAVIHAVTPL VSQSQPVLKL LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVIVIE 

       550        560        570        580        590        600 
GESKVMSSRF LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD 

       610        620        630        640        650        660 
NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA NCEDILMNFL 

       670        680        690        700        710        720 
VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ RQSCMNTFAS WFGYMPLIHS 

       730        740 
QMRLDPVLFK DQVSILRKKY RDIERL 

« Hide

References

« Hide 'large scale' references
[1]"The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15."
Lohmann D.R., Buiting K., Luedecke H.-J., Horsthemke B.
Cytogenet. Cell Genet. 76:164-166(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Strain: C57BL/6 X CBA.
[2]"Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for hereditary multiple exostoses."
Lin X., Wells D.
DNA Seq. 7:199-202(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Strain: C57BL/6.
Tissue: Embryo.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Mammary gland.
[4]"Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene."
Lin X., Gan L., Klein W.H., Wells D.
Biochem. Biophys. Res. Commun. 248:738-743(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
[5]"The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate."
McCormick C., Leduc Y., Martindale D., Mattison K., Esford L.E., Dyer A.P., Tufaro F.
Nat. Genet. 19:158-161(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[6]"The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate."
McCormick C., Duncan G., Goutsos K.T., Tufaro F.
Proc. Natl. Acad. Sci. U.S.A. 97:668-673(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U78539 mRNA. Translation: AAB41728.1.
X96639 mRNA. Translation: CAA65443.1.
BC004741 mRNA. Translation: AAH04741.1.
CCDSCCDS27466.1.
RefSeqNP_034292.2. NM_010162.2.
UniGeneMm.309395.

3D structure databases

ProteinModelPortalP97464.
SMRP97464. Positions 512-724.
ModBaseSearch...
MobiDBSearch...

Protein family/group databases

CAZyGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

PTM databases

PhosphoSiteP97464.

Proteomic databases

PRIDEP97464.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000077273; ENSMUSP00000076505; ENSMUSG00000061731.
GeneID14042.
KEGGmmu:14042.
UCSCuc007vrh.2. mouse.

Organism-specific databases

CTD2131.
MGIMGI:894663. Ext1.

Phylogenomic databases

eggNOGNOG272619.
HOGENOMHOG000266990.
HOVERGENHBG003459.
InParanoidP97464.
KOK02366.
OMAVTTCKHG.
OrthoDBEOG7RBZ7Z.
PhylomeDBP97464.
TreeFamTF314231.

Enzyme and pathway databases

UniPathwayUPA00378.

Gene expression databases

ArrayExpressP97464.
BgeeP97464.
CleanExMM_EXT1.
GenevestigatorP97464.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR004263. Exostosin.
IPR027670. Exostosin-1.
IPR015338. HexNAc_Trfase_a.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERPTHR11062. PTHR11062. 1 hit.
PTHR11062:SF45. PTHR11062:SF45. 1 hit.
PfamPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

ChiTaRSEXT1. mouse.
NextBio284978.
PROP97464.
SOURCESearch...

Entry information

Entry nameEXT1_MOUSE
AccessionPrimary (citable) accession number: P97464
Secondary accession number(s): Q61546
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 1997
Last modified: July 9, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot