Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ext1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Ext1
  • participates in the following biological processes:
    • heparan sulfate proteoglycan biosynthetic process ^[3]
  • performs the following molecular functions:
    • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ^[3]
    • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity ^[3]
  • is located in the following cellular components:
    • integral to endoplasmic reticulum membrane ^[4]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ext1
  • participates in the following biological processes:
    • axon guidance ^[1]
    • brain development ^[1]
    • embryonic skeletal joint development ^[5]
    • endoderm development ^[2]
    • gastrulation ^[2]
    • mesoderm development ^[2]
    • olfactory bulb development ^[1]
• Researchers have inferred, based on genetic interactions, that the gene product of Ext1
  • participates in the following biological processes:
    • axon guidance based on interactions with Slit2 ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Ext1:
  • participates in the following biological processes:
    • cellular polysaccharide biosynthetic process
    • glycosaminoglycan biosynthetic process
    • heparan sulfate proteoglycan biosynthetic process
    • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
    • ossification
  • performs the following molecular functions:
    • acetylglucosaminyltransferase activity
    • glucuronosyltransferase activity
    • protein heterodimerization activity
    • protein homodimerization activity
    • transferase activity, transferring glycosyl groups
  • is located in the following cellular components:
    • endoplasmic reticulum
    • Golgi apparatus

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Summary text based on GO annotations supported by structural data

• Ext1 encodes a protein or proteins that contain the following InterPro domains: Exostosin-like, EXTL2, alpha-1,4-N-acetylhexosaminyltransferase, indicating that the gene product:
  • performs the following molecular functions:
    • transferase activity, transferring hexosyl groups
  • is located in the following cellular components:
    • intrinsic to endoplasmic reticulum membrane
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ext1 indicates that it:
  • performs the following molecular functions:
    • transferase activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Inatani M et al. (2003) Mammalian brain morphogenesis and midline axon guidance require heparan sulfate. Science, 302:1044-6. (PubMed:14605369)
2. Lin X et al. (2000) Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice. Dev Biol, 224:299-311. (PubMed:10926768)
3. McCormick C et al. (2000) The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A, 97:668-73. (PubMed:10639137)
4. McCormick C et al. (1998) The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet, 19:158-61. (PubMed:9620772)
5. Mundy C et al. (2011) Synovial joint formation requires local Ext1 expression and heparan sulfate production in developing mouse embryo limbs and spine. Dev Biol, 351:70-81. (PubMed:21185280)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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