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P97464

- EXT1_MOUSE

UniProt

P97464 - EXT1_MOUSE

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Protein

Exostosin-1

Gene
Ext1
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

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.

Pathwayi

GO - Molecular functioni

  1. glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB
  2. N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Source: UniProtKB

GO - Biological processi

  1. axon guidance Source: MGI
  2. brain development Source: MGI
  3. embryonic skeletal joint development Source: MGI
  4. endoderm development Source: MGI
  5. gastrulation Source: MGI
  6. glycosaminoglycan biosynthetic process Source: Ensembl
  7. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
  8. heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: Ensembl
  9. mesoderm development Source: MGI
  10. olfactory bulb development Source: MGI
  11. ossification Source: Ensembl
  12. protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_198654. HS-GAG biosynthesis.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

Names & Taxonomyi

Protein namesi
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 namesi
Name:Ext1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 15

Organism-specific databases

MGIiMGI:894663. Ext1.

Subcellular locationi

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.2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini29 – 746718Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB-SubCell
  2. integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 746746Exostosin-1PRO_0000149649Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi89 – 891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi330 – 3301N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiP97464.

PTM databases

PhosphoSiteiP97464.

Expressioni

Tissue specificityi

Expressed in maturing chondrocytes.

Developmental stagei

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.1 Publication

Gene expression databases

ArrayExpressiP97464.
BgeeiP97464.
CleanExiMM_EXT1.
GenevestigatoriP97464.

Interactioni

Subunit structurei

Forms a homo/hetero-oligomeric complex with EXT2.

Structurei

3D structure databases

ProteinModelPortaliP97464.
SMRiP97464. Positions 512-724.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG272619.
HOGENOMiHOG000266990.
HOVERGENiHBG003459.
InParanoidiP97464.
KOiK02366.
OMAiVTTCKHG.
OrthoDBiEOG7RBZ7Z.
PhylomeDBiP97464.
TreeFamiTF314231.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR004263. Exostosin.
IPR027670. Exostosin-1.
IPR015338. HexNAc_Trfase_a.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR11062. PTHR11062. 1 hit.
PTHR11062:SF45. PTHR11062:SF45. 1 hit.
PfamiPF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

P97464-1 [UniParc]FASTAAdd to Basket

« Hide

MQAKKRYFIL LSAGSCLALL FYFGGVQFRA SRSHSRREEH SGRNGLHQPS    50
PDHFWPRFPD ALRPFFPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM 100
ESCFDFTLCK KNGFKVYVYP QQKGEKIAES YQNILAAIEG SRFYTSDPSQ 150
ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS LHLWNNGRNH LIFNLYSGTW 200
PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD HPRTGGERGF 250
LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVLLLTTCKH 300
GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA 350
LQAACVPVML SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK 400
ILALRQQTQF LWEAYFSSVE KIVLTTLEII QDRIFKHISR NSLIWNKHPG 450
GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF TAVIHAVTPL VSQSQPVLKL 500
LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVIVIE GESKVMSSRF 550
LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD 600
NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA 650
NCEDILMNFL VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ 700
RQSCMNTFAS WFGYMPLIHS QMRLDPVLFK DQVSILRKKY RDIERL 746
Length:746
Mass (Da):86,308
Last modified:May 1, 1997 - v1
Checksum:i5AC7F24BECEEDFF9
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti16 – 161C → S in CAA65443. 1 Publication
Sequence conflicti60 – 612DA → EP in CAA65443. 1 Publication
Sequence conflicti220 – 2201S → T in CAA65443. 1 Publication
Sequence conflicti486 – 4861A → P in CAA65443. 1 Publication
Sequence conflicti548 – 5481Missing in CAA65443. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U78539 mRNA. Translation: AAB41728.1.
X96639 mRNA. Translation: CAA65443.1.
BC004741 mRNA. Translation: AAH04741.1.
CCDSiCCDS27466.1.
RefSeqiNP_034292.2. NM_010162.2.
UniGeneiMm.309395.

Genome annotation databases

EnsembliENSMUST00000077273; ENSMUSP00000076505; ENSMUSG00000061731.
GeneIDi14042.
KEGGimmu:14042.
UCSCiuc007vrh.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U78539 mRNA. Translation: AAB41728.1 .
X96639 mRNA. Translation: CAA65443.1 .
BC004741 mRNA. Translation: AAH04741.1 .
CCDSi CCDS27466.1.
RefSeqi NP_034292.2. NM_010162.2.
UniGenei Mm.309395.

3D structure databases

ProteinModelPortali P97464.
SMRi P97464. Positions 512-724.
ModBasei Search...
MobiDBi Search...

Protein family/group databases

CAZyi GT47. Glycosyltransferase Family 47.
GT64. Glycosyltransferase Family 64.

PTM databases

PhosphoSitei P97464.

Proteomic databases

PRIDEi P97464.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000077273 ; ENSMUSP00000076505 ; ENSMUSG00000061731 .
GeneIDi 14042.
KEGGi mmu:14042.
UCSCi uc007vrh.2. mouse.

Organism-specific databases

CTDi 2131.
MGIi MGI:894663. Ext1.

Phylogenomic databases

eggNOGi NOG272619.
HOGENOMi HOG000266990.
HOVERGENi HBG003459.
InParanoidi P97464.
KOi K02366.
OMAi VTTCKHG.
OrthoDBi EOG7RBZ7Z.
PhylomeDBi P97464.
TreeFami TF314231.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_198654. HS-GAG biosynthesis.

Miscellaneous databases

ChiTaRSi EXT1. mouse.
NextBioi 284978.
PROi P97464.
SOURCEi Search...

Gene expression databases

ArrayExpressi P97464.
Bgeei P97464.
CleanExi MM_EXT1.
Genevestigatori P97464.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR004263. Exostosin.
IPR027670. Exostosin-1.
IPR015338. HexNAc_Trfase_a.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
PANTHERi PTHR11062. PTHR11062. 1 hit.
PTHR11062:SF45. PTHR11062:SF45. 1 hit.
Pfami PF03016. Exostosin. 1 hit.
PF09258. Glyco_transf_64. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiEXT1_MOUSE
AccessioniPrimary (citable) accession number: P97464
Secondary accession number(s): Q61546
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 1997
Last modified: September 3, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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