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Aliases for IDUA Gene

Aliases for IDUA Gene

  • Iduronidase, Alpha-L- 2 3
  • IDA 3 6
  • Alpha-L-Iduronidase 3
  • EC 3.2.1.76 4
  • MPS1 3

External Ids for IDUA Gene

Summaries for IDUA Gene

Entrez Gene Summary for IDUA Gene

  • This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]

GeneCards Summary for IDUA Gene

IDUA (Iduronidase, Alpha-L-) is a Protein Coding gene. Diseases associated with IDUA include mucopolysaccharidosis ih and mucopolysaccharidosis ih/s. Among its related pathways are Disease and Lysosome. GO annotations related to this gene include receptor binding and L-iduronidase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IDUA Gene

Genomics for IDUA Gene

Genomic Location for IDUA Gene

Start:
986,997 bp from pter
End:
1,004,557 bp from pter
Size:
17,561 bases
Orientation:
Plus strand

Genomic View for IDUA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IDUA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IDUA Gene

Regulatory Elements for IDUA Gene

Proteins for IDUA Gene

  • Protein details for IDUA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35475-IDUA_HUMAN
    Recommended name:
    Alpha-L-iduronidase
    Protein Accession:
    P35475
    Secondary Accessions:
    • B3KWK6

    Protein attributes for IDUA Gene

    Size:
    653 amino acids
    Molecular mass:
    72670 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for IDUA Gene

    Alternative splice isoforms for IDUA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IDUA Gene

Proteomics data for IDUA Gene at MOPED

Post-translational modifications for IDUA Gene

  • N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity.
  • Glycosylation at Asn110, Asn190, Asn336, Asn372, Asn415, and Asn451

Other Protein References for IDUA Gene

No data available for DME Specific Peptides for IDUA Gene

Domains for IDUA Gene

UniProtKB/Swiss-Prot:

IDUA_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 39 family.:
    • P35475
genes like me logo Genes that share domains with IDUA: view

No data available for Gene Families for IDUA Gene

Function for IDUA Gene

Molecular function for IDUA Gene

GENATLAS Biochemistry: iduronidase,alpha-L,same as D4S111,lysosomal,hydrolyzing dermatan sulfate,heparan sulfate,catalyzing the second step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.

Enzyme Numbers (IUBMB) for IDUA Gene

Gene Ontology (GO) - Molecular Function for IDUA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003940 L-iduronidase activity IDA 24036510
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0005102 receptor binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with IDUA: view
genes like me logo Genes that share phenotypes with IDUA: view

Animal Models for IDUA Gene

MGI Knock Outs for IDUA:

miRNA for IDUA Gene

miRTarBase miRNAs that target IDUA

No data available for Transcription Factor Targeting and HOMER Transcription for IDUA Gene

Localization for IDUA Gene

Subcellular locations from UniProtKB/Swiss-Prot for IDUA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IDUA Gene COMPARTMENTS Subcellular localization image for IDUA gene
Compartment Confidence
lysosome 5
vacuole 5
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IDUA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0030135 coated vesicle IEA --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with IDUA: view

Pathways for IDUA Gene

genes like me logo Genes that share pathways with IDUA: view

Interacting Proteins for IDUA Gene

Gene Ontology (GO) - Biological Process for IDUA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0005984 disaccharide metabolic process TAS 2470345
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0007040 lysosome organization IEA --
genes like me logo Genes that share ontologies with IDUA: view

Compounds for IDUA Gene

(3) HMDB Compounds for IDUA Gene

Compound Synonyms Cas Number PubMed IDs
Dermatan
  • Chondroitin sulfate B
24967-94-0
Iduronic acid
  • L-Iduronate
3402-98-0
Water
  • Dihydrogen oxide
7732-18-5

(25) Novoseek inferred chemical compound relationships for IDUA Gene

Compound -log(P) Hits PubMed IDs
dermatan sulfate 83.9 21
glycosaminoglycan 78.2 14
idarubicin 77.4 45
heparan sulfate 74.4 19
dermatan 69.2 2
genes like me logo Genes that share compounds with IDUA: view

Transcripts for IDUA Gene

Unigene Clusters for IDUA Gene

Iduronidase, alpha-L-:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IDUA Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: - -
SP7:
SP8: - - -

Relevant External Links for IDUA Gene

GeneLoc Exon Structure for
IDUA
ECgene alternative splicing isoforms for
IDUA

Expression for IDUA Gene

mRNA expression in normal human tissues for IDUA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IDUA Gene

SOURCE GeneReport for Unigene cluster for IDUA Gene Hs.89560

mRNA Expression by UniProt/SwissProt for IDUA Gene

P35475-IDUA_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with IDUA: view

Orthologs for IDUA Gene

This gene was present in the common ancestor of animals.

Orthologs for IDUA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IDUA 36
  • 96.1 (n)
  • 94.31 (a)
IDUA 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IDUA 36
  • 84.88 (n)
  • 81.95 (a)
IDUA 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FGFRL1 36
  • 84.97 (n)
  • 82.34 (a)
IDUA 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Idua 36
  • 80.32 (n)
  • 80.1 (a)
Idua 16
Idua 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 48 (a)
OneToMany
-- 37
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Idua 36
  • 79.28 (n)
  • 79.45 (a)
chicken
(Gallus gallus)
Aves IDUA 36
  • 60.64 (n)
  • 60.69 (a)
IDUA 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IDUA 37
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia idua 36
  • 56.02 (n)
  • 55.79 (a)
zebrafish
(Danio rerio)
Actinopterygii idua 36
  • 62.4 (n)
  • 58.9 (a)
idua 37
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010549 36
  • 45.17 (n)
  • 36.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6201 36
  • 45.34 (n)
  • 32.24 (a)
CG6201 37
  • 29 (a)
OneToOne
CG6201 38
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for IDUA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IDUA Gene

ENSEMBL:
Gene Tree for IDUA (if available)
TreeFam:
Gene Tree for IDUA (if available)

Paralogs for IDUA Gene

No data available for Paralogs for IDUA Gene

Variants for IDUA Gene

Sequence variations from dbSNP and Humsavar for IDUA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs733349 -- 1,004,452(-) CACAG(G/T)GCAGC utr-variant-3-prime, nc-transcript-variant
rs762586 -- 1,004,294(+) GTTCG(A/C/G)ACCCT reference, synonymous-codon, nc-transcript-variant
rs762587 -- 1,004,294(+) TTCGG(A/G)CCCTG frameshift-variant, reference, nc-transcript-variant
rs935966 -- 998,893(-) GGGGG(C/T)CATGG intron-variant, upstream-variant-2KB
rs1131853 -- 1,003,307(-) AGGGG(A/G)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IDUA Gene

Variant ID Type Subtype PubMed ID
nsv822425 CNV Loss 20364138
dgv5390n71 CNV Loss 21882294
dgv5391n71 CNV Loss 21882294
nsv469998 CNV Loss 18288195
dgv5395n71 CNV Loss 21882294
nsv878286 CNV Gain 21882294
nsv878287 CNV Loss 21882294
dgv5396n71 CNV Loss 21882294
dgv5397n71 CNV Loss 21882294
nsv878292 CNV Loss 21882294
nsv4196 CNV Loss 18451855
nsv822428 CNV Gain 20364138
nsv878310 CNV Loss 21882294
dgv5398n71 CNV Loss 21882294
nsv878315 CNV Loss 21882294
nsv482086 CNV Gain 20164927
nsv822429 CNV Gain 20364138
dgv5399n71 CNV Loss 21882294
esv2726742 CNV Deletion 23290073
esv2726743 CNV Deletion 23290073
esv2726744 CNV Deletion 23290073
esv1085367 CNV Deletion 17803354
nsv878317 CNV Loss 21882294

Relevant External Links for IDUA Gene

HapMap Linkage Disequilibrium report
IDUA
Human Gene Mutation Database (HGMD)
IDUA
Locus Specific Mutation Databases (LSDB)
IDUA

Disorders for IDUA Gene

(3) OMIM Diseases for IDUA Gene (252800)

UniProtKB/Swiss-Prot

IDUA_HUMAN
  • Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]: A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. {ECO:0000269 PubMed:10466419, ECO:0000269 PubMed:10735634, ECO:0000269 PubMed:12559846, ECO:0000269 PubMed:1301941, ECO:0000269 PubMed:15300847, ECO:0000269 PubMed:21394825, ECO:0000269 PubMed:7550232, ECO:0000269 PubMed:7550242, ECO:0000269 PubMed:7951228, ECO:0000269 PubMed:8019563, ECO:0000269 PubMed:8328452, ECO:0000269 PubMed:8401515, ECO:0000269 Ref.20}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]: A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]: A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. {ECO:0000269 PubMed:12559846, ECO:0000269 PubMed:15300847, ECO:0000269 PubMed:19396826, ECO:0000269 PubMed:21394825, ECO:0000269 PubMed:25256405, ECO:0000269 PubMed:7550232, ECO:0000269 PubMed:7550242, ECO:0000269 PubMed:8213840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for IDUA Gene

(26) Novoseek inferred disease relationships for IDUA Gene

Disease -log(P) Hits PubMed IDs
mucopolysaccharidosis type i 99.1 119
hurler-scheie syndrome 95.7 9
mucopolysaccharidosis 88.7 10
lysosomal storage diseases 82.4 11
enzyme deficiency 66.9 4

Relevant External Links for IDUA

GeneTests
IDUA
GeneReviews
IDUA
Genetic Association Database (GAD)
IDUA
Human Genome Epidemiology (HuGE) Navigator
IDUA
genes like me logo Genes that share disorders with IDUA: view

Publications for IDUA Gene

  1. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. (PMID: 1362562) Scott H.S. … Morris C.P. (Hum. Genet. 1992) 3 4 23
  2. Structure and sequence of the human alpha-L-iduronidase gene. (PMID: 1505961) Scott H.S. … Morris C.P. (Genomics 1992) 3 4 23
  3. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. (PMID: 1832239) MacDonald M.E. … Gusella J.F. (Somat. Cell Mol. Genet. 1991) 2 3 23
  4. Human alpha-L-iduronidase: cDNA isolation and expression. (PMID: 1946389) Scott H.S. … Hopwood J.J. (Proc. Natl. Acad. Sci. U.S.A. 1991) 3 4 23
  5. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. (PMID: 8680403) Scott H.S. … Hopwood J.J. (Hum. Mutat. 1995) 3 4 23

Products for IDUA Gene

Sources for IDUA Gene

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