Property Summary

NCBI Gene PubMed Count 64
Grant Count 100
R01 Count 50
Funding $20,376,282.7
PubMed Score 271.29
PubTator Score 206.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
Multiple myeloma 1.014 0.044
malignant mesothelioma -1.300 0.000

Synonym

Accession P35475 B3KWK6
Symbols IDA
MPS1

Gene

PANTHER Protein Class (2)

PDB

1Y24   3W81   3W82   4KGJ   4KGL   4KH2   4MJ2   4MJ4   4OBR   4OBS  

 GO Function (1)

 GWAS Trait (1)

Gene RIF (25)

PMID Text
25256405 A new IDUA variant that alters the structure of the signal peptide associated with mucopolysaccharidosis type I is reported.
24480078 Amino acid substitutions in alpha-L-iduronidase determine the severity of mucopolysaccharidosis type I.
24368159 The alpha-L-iduronidase missense mutation causing L238Q substitution, when paired with a nonsense mutation, is associated with significant, late-onset brain disease.
24036510 The IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes.
23959878 Data show that alpha-l-iduronidase (hIDUA) enzyme activity was highly correlated with the N-glycan attached to N372.
23786846 We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype.
23143250 X-ray diffraction analysis of human alpha-L-iduronidase
21831683 A previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation.
21639919 The identification of two novel alpha-L-iduronidase mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.
21521498 This paper, showed a heterogeneous pattern of mutations and polymorphisms in the IDUA gene among Tunisian patients.
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AA Sequence

MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQ      1 - 70
QLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHF     71 - 140
TDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLR    141 - 210
AASPALRLGGPGDSFHTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVA    211 - 280
QQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDN    281 - 350
AFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGV    351 - 420
LASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRL    421 - 490
GRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLT    491 - 560
QGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPG    561 - 630
PFSDPVPYLEVPVPRGPPSPGNP                                                   631 - 653
//

Text Mined References (66)

PMID Year Title
25256405 2015 p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
24480078 2014 Structural and clinical implications of amino acid substitutions in ?-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
24368159 2014 Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the ?-L-iduronidase gene in Hurler-Scheie syndrome.
24036510 2013 Insights into mucopolysaccharidosis I from the structure and action of ?-L-iduronidase.
23959878 2013 Human ?-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module.
23786846 2013 Residual ?-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
23653226 2014 Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23143250 2012 Crystallization, X-ray diffraction analysis and SIRAS phasing of human ?-L-iduronidase.
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