• Gene id: 3425

Gene Summary

• Gene Symbol: IDUA   Gene   UCSC   Ensembl
• Aliases: IDA, MPS1, MPSI
• Gene name: alpha-L-iduronidase
• Alternate names: alpha-L-iduronidase, iduronidase alpha-L-, mucopolysaccharidosis type I,
• Gene location: 4p16.3 (986996: 1004563)     Exons: 16     NC_000004.12
• Gene summary(Entrez): 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 th
• OMIM: 140100

Protein Summary

• Protein general information: P35475  
  • Name: Alpha L iduronidase (EC 3.2.1.76)
  • Length: 653  
  • Mass: 72670
  • Tissue specificity: Ubiquitous.
• Sequence:

  MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLA
  YVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVF
  EWKDLVSSLARRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSF
  HTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEA
  DPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTR
  PPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHP
  NRSVAVTLRLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLT
  LRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPS
  TFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP

• Structural information:
  • Interpro: IPR000514  IPR017853  IPR013783  
  • Prosite: PS01027
  • PDB: 1Y24 3W81 3W82 4KGJ 4KGL 4KH2 4MJ2 4MJ4 4OBR 4OBS 6I6R 6I6X
  • PDBsum: 1Y24 3W81 3W82 4KGJ 4KGL 4KH2 4MJ2 4MJ4 4OBR 4OBS 6I6R 6I6X
  • STRING: ENSP00000247933
• Other Databases: GeneCards:  IDUA  Malacards:  IDUA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003940	L-iduronidase activity	IBA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IBA	molecular function
GO:0003940	L-iduronidase activity	IDA	molecular function
GO:0030209	dermatan sulfate catabolic process	IDA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0003940	L-iduronidase activity	TAS	molecular function
GO:0005984	disaccharide metabolic process	TAS	biological process
GO:0003940	L-iduronidase activity	IEA	molecular function
GO:0030211	heparin catabolic process	IMP	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0003940	L-iduronidase activity	TAS	molecular function
GO:0003940	L-iduronidase activity	TAS	molecular function
GO:0003940	L-iduronidase activity	TAS	molecular function
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0030207	chondroitin sulfate catabolic process	TAS	biological process
GO:0003940	L-iduronidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0006027	glycosaminoglycan catabolic process	IEA	biological process
GO:0030135	coated vesicle	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00531	Glycosaminoglycan degradation

Diseases

Associated diseases	References
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type I	KEGG:H00128
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type I	KEGG:H00128
mucopolysaccharidosis I	PMID:15128896
mucopolysaccharidosis I	PMID:24100243
mucopolysaccharidosis I	PMID:15126990
mucopolysaccharidosis I	PMID:12948739
mucopolysaccharidosis I	PMID:15194053
mucopolysaccharidosis I	PMID:18523448
mucopolysaccharidosis I	PMID:17407189
mucopolysaccharidosis I	PMID:25597593
mucopolysaccharidosis I	PMID:8664897
mucopolysaccharidosis I	PMID:27146977
mucopolysaccharidosis I	PMID:7951228
mucopolysaccharidosis I	PMID:1301941
mucopolysaccharidosis I	PMID:1301196
mucopolysaccharidosis I	PMID:16435195
mucopolysaccharidosis I	PMID:21734815
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq