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IDUA

GENERAL INFORMATION

Gene name

 IDUA

Gene description

 Iduronidase, alpha-L-

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in a majority of tissues, often with a lysosomal pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 3 antibodies.
HPA046979 , HPA054254 , CAB025901
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 IDUA (HGNC Symbol)

Synonyms

 MPS1

Description

 Iduronidase, alpha-L- (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 4

Cytoband

 p16.3

Chromosome location (bp)

 986997 - 1004506

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000127415 (version 83.38)

Entrez gene

 3425

UniProt

 P35475 (UniProt - Evidence at protein level)

neXtProt

 NX_P35475

Antibodypedia

 IDUA antibodies

PROTEIN BROWSER
IDUA-001
IDUA-004
IDUA-005
IDUA-007
IDUA-010
IDUA-011

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
IDUA-001
ENSP00000247933
ENST00000247933
P35475 [Direct mapping]
Alpha-L-iduronidase
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000902 [cell morphogenesis]
GO:0003940 [L-iduronidase activity]
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005102 [receptor binding]
GO:0005764 [lysosome]
GO:0005975 [carbohydrate metabolic process]
GO:0005984 [disaccharide metabolic process]
GO:0006027 [glycosaminoglycan catabolic process]
GO:0007040 [lysosome organization]
GO:0030135 [coated vesicle]
GO:0030203 [glycosaminoglycan metabolic process]
GO:0030204 [chondroitin sulfate metabolic process]
GO:0030207 [chondroitin sulfate catabolic process]
GO:0030209 [dermatan sulfate catabolic process]
GO:0035108 [limb morphogenesis]
GO:0043202 [lysosomal lumen]
GO:0044281 [small molecule metabolic process]
GO:0048705 [skeletal system morphogenesis]
GO:0048878 [chemical homeostasis]
GO:0070062 [extracellular exosome]
Show all
 653 aa
72.7 kDa 		Yes 0
IDUA-004
ENSP00000425081
ENST00000514224
D6REB5 [Direct mapping]
Alpha-L-iduronidase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 521 aa
57.9 kDa 		No 0
IDUA-005
ENSP00000422952
ENST00000502910
D6R9D5 [Direct mapping]
Alpha-L-iduronidase
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 224 aa
25.2 kDa 		Yes 0
IDUA-007
ENSP00000424847
ENST00000504568
H0Y9R9 [Direct mapping]
Alpha-L-iduronidase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 196 aa
21.9 kDa 		No 0
IDUA-010
ENSP00000423685
ENST00000514192
H0Y9B3 [Direct mapping]
Alpha-L-iduronidase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 232 aa
25.6 kDa 		No 0
IDUA-011
ENSP00000424227
ENST00000509948
D6RBD5 [Direct mapping]
Alpha-L-iduronidase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0005975 [carbohydrate metabolic process]
Show all
 176 aa
19.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.