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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.

Cofactori

Manganese.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei518 – 5181SubstrateBy similarity
Metal bindingi567 – 5671Manganese; catalyticBy similarity
Binding sitei595 – 5951SubstrateBy similarity
Active sitei654 – 6541By similarity

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

Keywords - Ligandi

Manganese, Metal-binding

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

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB-KW
  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...)Sequence Analysis
Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi652 ↔ 704By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP97464.
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

BgeeiP97464.
CleanExiMM_EXT1.
ExpressionAtlasiP97464. baseline and differential.
GenevestigatoriP97464.

Interactioni

Subunit structurei

Forms a homo/hetero-oligomeric complex with EXT2.

Structurei

3D structure databases

ProteinModelPortaliP97464.
SMRiP97464. Positions 512-724.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence Analysis
Topological domaini29 – 746718LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni544 – 5496Substrate bindingBy similarity
Regioni565 – 5673Substrate bindingBy similarity
Regioni650 – 6545Substrate bindingBy similarity
Regioni688 – 70114Substrate bindingBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the glycosyltransferase 47 family.Curated

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

        10         20         30         40         50
MQAKKRYFIL LSAGSCLALL FYFGGVQFRA SRSHSRREEH SGRNGLHQPS
60 70 80 90 100
PDHFWPRFPD ALRPFFPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM
110 120 130 140 150
ESCFDFTLCK KNGFKVYVYP QQKGEKIAES YQNILAAIEG SRFYTSDPSQ
160 170 180 190 200
ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS LHLWNNGRNH LIFNLYSGTW
210 220 230 240 250
PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD HPRTGGERGF
260 270 280 290 300
LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVLLLTTCKH
310 320 330 340 350
GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA
360 370 380 390 400
LQAACVPVML SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK
410 420 430 440 450
ILALRQQTQF LWEAYFSSVE KIVLTTLEII QDRIFKHISR NSLIWNKHPG
460 470 480 490 500
GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF TAVIHAVTPL VSQSQPVLKL
510 520 530 540 550
LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVIVIE GESKVMSSRF
560 570 580 590 600
LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD
610 620 630 640 650
NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA
660 670 680 690 700
NCEDILMNFL VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ
710 720 730 740
RQSCMNTFAS WFGYMPLIHS QMRLDPVLFK DQVSILRKKY RDIERL
Length:746
Mass (Da):86,308
Last modified:May 1, 1997 - v1
Checksum:i5AC7F24BECEEDFF9
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti16 – 161C → S in CAA65443. (PubMed:9254013)Curated
Sequence conflicti60 – 612DA → EP in CAA65443. (PubMed:9254013)Curated
Sequence conflicti220 – 2201S → T in CAA65443. (PubMed:9254013)Curated
Sequence conflicti486 – 4861A → P in CAA65443. (PubMed:9254013)Curated
Sequence conflicti548 – 5481Missing in CAA65443. (PubMed:9254013)Curated

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

MaxQBi P97464.
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

Bgeei P97464.
CleanExi MM_EXT1.
ExpressionAtlasi P97464. baseline and differential.
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: October 29, 2014
This is version 126 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