IDUA (alpha-L-iduronidase)

2014-11-01  

Identity

HGNC
IDUA
LOCATION
4p16.3
LOCUSID
3425
ALIAS
IDA,MPS1,MPSI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127415ENST00000247933P35475
ENSG00000127415ENST00000502910D6R9D5
ENSG00000127415ENST00000504568H0Y9R9
ENSG00000127415ENST00000514224P35475

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

PathwaySourceExternal ID
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Dermatan sulfate degradationKEGGhsa_M00076
Heparan sulfate degradationKEGGhsa_M00078
Dermatan sulfate degradationKEGGM00076
Heparan sulfate degradationKEGGM00078
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
HS-GAG degradationREACTOMER-HSA-2024096
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
CS/DS degradationREACTOMER-HSA-2024101

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369514682023A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.0
369514682023A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.0
347839642022Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.1
347839642022Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.1
341897462021Mucopolysaccharidoses type I gene therapy.3
341897462021Mucopolysaccharidoses type I gene therapy.3
314000212020IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.2
317586742020Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.2
319260522020Estimated birth prevalence of mucopolysaccharidoses in Brazil.10
319437092020Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".0
314000212020IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.2
317586742020Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.2
319260522020Estimated birth prevalence of mucopolysaccharidoses in Brazil.10
319437092020Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".0
312754562019Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis.5

Citation

Dessen P

IDUA (alpha-L-iduronidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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