IDUA (alpha-L-iduronidase)

2014-11-01 Affiliation

Identity

HGNC

IDUA

LOCATION

4p16.3

LOCUSID

3425

ALIAS

IDA,MPS1,MPSI

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3425
MIM: 252800
HGNC: 5391
Ensembl: ENSG00000127415

Variants:

dbSNP: 3425
ClinVar: 3425
TCGA: ENSG00000127415
COSMIC: IDUA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000127415	ENST00000247933	P35475
ENSG00000127415	ENST00000502910	D6R9D5
ENSG00000127415	ENST00000504568	H0Y9R9
ENSG00000127415	ENST00000514224	P35475

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycosaminoglycan degradation	KEGG	ko00531
Glycosaminoglycan degradation	KEGG	hsa00531
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Dermatan sulfate degradation	KEGG	hsa_M00076
Heparan sulfate degradation	KEGG	hsa_M00078
Dermatan sulfate degradation	KEGG	M00076
Heparan sulfate degradation	KEGG	M00078
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glycosaminoglycan metabolism	REACTOME	R-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolism	REACTOME	R-HSA-1638091
HS-GAG degradation	REACTOME	R-HSA-2024096
Chondroitin sulfate/dermatan sulfate metabolism	REACTOME	R-HSA-1793185
CS/DS degradation	REACTOME	R-HSA-2024101

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
27238910	2016	Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.	41
21397026	2011	Direct gene transfer to the CNS prevents emergence of neurologic disease in a murine model of mucopolysaccharidosis type I.	30
12559846	2003	Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.	22
21394825	2011	IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.	22
15300847	2004	Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.	15
19751987	2010	Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.	14
24036510	2013	Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.	13
24368159	2014	Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.	11
15862278	2005	A homology model for human alpha-l-iduronidase: insights into human disease.	9
21521498	2011	Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.	9

Citation

Dessen P

IDUA (alpha-L-iduronidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64502/idua