Reviewed, UniProtKB/Swiss-Prot P97464 (EXT1_MOUSE)

Names and origin

Protein names

Recommended 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

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	746 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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 component	Endoplasmic reticulum Golgi apparatus Membrane
Domain	Signal-anchor Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	endoderm development Inferred from mutant phenotype. Source: MGI gastrulation Inferred from mutant phenotype. Source: MGI heparan sulfate proteoglycan biosynthetic process Ref.6 Inferred from direct assay. Source: UniProtKB mesoderm development Inferred from mutant phenotype. Source: MGI
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to endoplasmic reticulum membrane Ref.5 Inferred from direct assay. Source: UniProtKB
Molecular function	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Ref.6 Inferred from direct assay. Source: UniProtKB glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Ref.6 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 746	746	Exostosin-1		PRO_0000149649
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 28	21	Signal-anchor for type II membrane protein Potential
	Topological domain	29 – 746	718	Lumenal Potential
Amino acid modifications
	Glycosylation	89	1	N-linked (GlcNAc...) Potential
	Glycosylation	330	1	N-linked (GlcNAc...) Potential
Experimental info
	Sequence conflict	16	1	C → S in CAA65443. Ref.2
	Sequence conflict	60 – 61	2	DA → EP in CAA65443. Ref.2
	Sequence conflict	220	1	S → T in CAA65443. Ref.2
	Sequence conflict	486	1	A → P in CAA65443. Ref.2
	Sequence conflict	548	1	Missing in CAA65443. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P97464-1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 5AC7F24BECEEDFF9	FASTA	746	86,308
	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

References

	« Hide 'large scale' referencesShow '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: 9186511] [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: 9254013] [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: 15489334] [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: 9703997] [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: 9620772] [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: 10639137] [Abstract] Cited for: CHARACTERIZATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U78539 mRNA. Translation: AAB41728.1. X96639 mRNA. Translation: CAA65443.1. BC004741 mRNA. Translation: AAH04741.1.
IPI	IPI00125530.
RefSeq	NP_034292.2.
UniGene	Mm.309395
3D structure databases
HSSP	HSSP built from PDB template 1OMX based on UniProtKB Q9ES89.
ModBase	Search...
Protein family/group databases
CAZy	GT47. Glycosyltransferase Family 47. GT64. Glycosyltransferase Family 64.
PTM databases
PhosphoSite	P97464.
Genome annotation databases
Ensembl	ENSMUSG00000061731. Mus musculus. [Contig view]
GeneID	14042.
KEGG	mmu:14042.
Organism-specific databases
MGI	MGI:894663. Ext1.
Phylogenomic databases
HOGENOM	P97464.
HOVERGEN	P97464.
OMA	P97464. PWEQLEN.
Enzyme and pathway databases
BRENDA	2.4.1.225. 244.
Gene expression databases
ArrayExpress	P97464.
Bgee	P97464.
CleanEx	MM_EXT1.
GermOnline	ENSMUSG00000061731. Mus musculus.
Family and domain databases
InterPro	IPR004263. Exostosin. IPR015338. HexNAc_Trfase_a. [Graphical view]
Pfam	PF03016. Exostosin. 1 hit. PF09258. Glyco_transf_64. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	284978.
SOURCE	Search...

Entry information

Entry name

EXT1_MOUSE

Accession

Primary (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:	June 16, 2009
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)